for Journals by Title or ISSN
for Articles by Keywords
help

Publisher: Elsevier   (Total: 3042 journals)

 A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z  

        1 2 3 4 5 6 7 8 | Last   [Sort by number of followers]   [Restore default list]

Showing 1 - 200 of 3042 Journals sorted alphabetically
AASRI Procedia     Open Access   (Followers: 15)
Academic Pediatrics     Hybrid Journal   (Followers: 19, SJR: 1.402, h-index: 51)
Academic Radiology     Hybrid Journal   (Followers: 16, SJR: 1.008, h-index: 75)
Accident Analysis & Prevention     Partially Free   (Followers: 81, SJR: 1.109, h-index: 94)
Accounting Forum     Hybrid Journal   (Followers: 23, SJR: 0.612, h-index: 27)
Accounting, Organizations and Society     Hybrid Journal   (Followers: 27, SJR: 2.515, h-index: 90)
Achievements in the Life Sciences     Open Access   (Followers: 4)
Acta Anaesthesiologica Taiwanica     Open Access   (Followers: 5, SJR: 0.338, h-index: 19)
Acta Astronautica     Hybrid Journal   (Followers: 328, SJR: 0.726, h-index: 43)
Acta Automatica Sinica     Full-text available via subscription   (Followers: 3)
Acta Biomaterialia     Hybrid Journal   (Followers: 25, SJR: 2.02, h-index: 104)
Acta Colombiana de Cuidado Intensivo     Full-text available via subscription  
Acta de Investigación Psicológica     Open Access   (Followers: 2)
Acta Ecologica Sinica     Open Access   (Followers: 8, SJR: 0.172, h-index: 29)
Acta Haematologica Polonica     Free   (SJR: 0.123, h-index: 8)
Acta Histochemica     Hybrid Journal   (Followers: 3, SJR: 0.604, h-index: 38)
Acta Materialia     Hybrid Journal   (Followers: 205, SJR: 3.683, h-index: 202)
Acta Mathematica Scientia     Full-text available via subscription   (Followers: 5, SJR: 0.615, h-index: 21)
Acta Mechanica Solida Sinica     Full-text available via subscription   (Followers: 9, SJR: 0.442, h-index: 21)
Acta Oecologica     Hybrid Journal   (Followers: 9, SJR: 0.915, h-index: 53)
Acta Otorrinolaringologica (English Edition)     Full-text available via subscription   (Followers: 1)
Acta Otorrinolaringológica Española     Full-text available via subscription   (Followers: 3, SJR: 0.311, h-index: 16)
Acta Pharmaceutica Sinica B     Open Access   (Followers: 2)
Acta Poética     Open Access   (Followers: 4)
Acta Psychologica     Hybrid Journal   (Followers: 22, SJR: 1.365, h-index: 73)
Acta Sociológica     Open Access  
Acta Tropica     Hybrid Journal   (Followers: 5, SJR: 1.059, h-index: 77)
Acta Urológica Portuguesa     Open Access  
Actas Dermo-Sifiliograficas     Full-text available via subscription   (Followers: 4)
Actas Dermo-Sifiliográficas (English Edition)     Full-text available via subscription   (Followers: 3)
Actas Urológicas Españolas     Full-text available via subscription   (Followers: 4, SJR: 0.383, h-index: 19)
Actas Urológicas Españolas (English Edition)     Full-text available via subscription   (Followers: 2)
Actualites Pharmaceutiques     Full-text available via subscription   (Followers: 5, SJR: 0.141, h-index: 3)
Actualites Pharmaceutiques Hospitalieres     Full-text available via subscription   (Followers: 4, SJR: 0.112, h-index: 2)
Acupuncture and Related Therapies     Hybrid Journal   (Followers: 3)
Ad Hoc Networks     Hybrid Journal   (Followers: 11, SJR: 0.967, h-index: 57)
Addictive Behaviors     Hybrid Journal   (Followers: 15, SJR: 1.514, h-index: 92)
Addictive Behaviors Reports     Open Access   (Followers: 5)
Additive Manufacturing     Hybrid Journal   (Followers: 7, SJR: 1.039, h-index: 5)
Additives for Polymers     Full-text available via subscription   (Followers: 20)
Advanced Drug Delivery Reviews     Hybrid Journal   (Followers: 124, SJR: 5.2, h-index: 222)
Advanced Engineering Informatics     Hybrid Journal   (Followers: 11, SJR: 1.265, h-index: 53)
Advanced Powder Technology     Hybrid Journal   (Followers: 16, SJR: 0.739, h-index: 33)
Advances in Accounting     Hybrid Journal   (Followers: 9, SJR: 0.299, h-index: 15)
Advances in Agronomy     Full-text available via subscription   (Followers: 15, SJR: 2.071, h-index: 82)
Advances in Anesthesia     Full-text available via subscription   (Followers: 25, SJR: 0.169, h-index: 4)
Advances in Antiviral Drug Design     Full-text available via subscription   (Followers: 3)
Advances in Applied Mathematics     Full-text available via subscription   (Followers: 6, SJR: 1.054, h-index: 35)
Advances in Applied Mechanics     Full-text available via subscription   (Followers: 10, SJR: 0.801, h-index: 26)
Advances in Applied Microbiology     Full-text available via subscription   (Followers: 21, SJR: 1.286, h-index: 49)
Advances In Atomic, Molecular, and Optical Physics     Full-text available via subscription   (Followers: 16, SJR: 3.31, h-index: 42)
Advances in Biological Regulation     Hybrid Journal   (Followers: 4, SJR: 2.277, h-index: 43)
Advances in Botanical Research     Full-text available via subscription   (Followers: 3, SJR: 0.619, h-index: 48)
Advances in Cancer Research     Full-text available via subscription   (Followers: 25, SJR: 2.215, h-index: 78)
Advances in Carbohydrate Chemistry and Biochemistry     Full-text available via subscription   (Followers: 9, SJR: 0.9, h-index: 30)
Advances in Catalysis     Full-text available via subscription   (Followers: 5, SJR: 2.139, h-index: 42)
Advances in Cellular and Molecular Biology of Membranes and Organelles     Full-text available via subscription   (Followers: 12)
Advances in Chemical Engineering     Full-text available via subscription   (Followers: 24, SJR: 0.183, h-index: 23)
Advances in Child Development and Behavior     Full-text available via subscription   (Followers: 10, SJR: 0.665, h-index: 29)
Advances in Chronic Kidney Disease     Full-text available via subscription   (Followers: 8, SJR: 1.268, h-index: 45)
Advances in Clinical Chemistry     Full-text available via subscription   (Followers: 28, SJR: 0.938, h-index: 33)
Advances in Colloid and Interface Science     Full-text available via subscription   (Followers: 18, SJR: 2.314, h-index: 130)
Advances in Computers     Full-text available via subscription   (Followers: 16, SJR: 0.223, h-index: 22)
Advances in Developmental Biology     Full-text available via subscription   (Followers: 11)
Advances in Digestive Medicine     Open Access   (Followers: 4)
Advances in DNA Sequence-Specific Agents     Full-text available via subscription   (Followers: 5)
Advances in Drug Research     Full-text available via subscription   (Followers: 22)
Advances in Ecological Research     Full-text available via subscription   (Followers: 39, SJR: 3.25, h-index: 43)
Advances in Engineering Software     Hybrid Journal   (Followers: 25, SJR: 0.486, h-index: 10)
Advances in Experimental Biology     Full-text available via subscription   (Followers: 7)
Advances in Experimental Social Psychology     Full-text available via subscription   (Followers: 40, SJR: 5.465, h-index: 64)
Advances in Exploration Geophysics     Full-text available via subscription   (Followers: 3)
Advances in Fluorine Science     Full-text available via subscription   (Followers: 8)
Advances in Food and Nutrition Research     Full-text available via subscription   (Followers: 45, SJR: 0.674, h-index: 38)
Advances in Fuel Cells     Full-text available via subscription   (Followers: 14)
Advances in Genetics     Full-text available via subscription   (Followers: 15, SJR: 2.558, h-index: 54)
Advances in Genome Biology     Full-text available via subscription   (Followers: 12)
Advances in Geophysics     Full-text available via subscription   (Followers: 6, SJR: 2.325, h-index: 20)
Advances in Heat Transfer     Full-text available via subscription   (Followers: 20, SJR: 0.906, h-index: 24)
Advances in Heterocyclic Chemistry     Full-text available via subscription   (Followers: 8, SJR: 0.497, h-index: 31)
Advances in Human Factors/Ergonomics     Full-text available via subscription   (Followers: 24)
Advances in Imaging and Electron Physics     Full-text available via subscription   (Followers: 2, SJR: 0.396, h-index: 27)
Advances in Immunology     Full-text available via subscription   (Followers: 34, SJR: 4.152, h-index: 85)
Advances in Inorganic Chemistry     Full-text available via subscription   (Followers: 9, SJR: 1.132, h-index: 42)
Advances in Insect Physiology     Full-text available via subscription   (Followers: 3, SJR: 1.274, h-index: 27)
Advances in Integrative Medicine     Hybrid Journal   (Followers: 4)
Advances in Intl. Accounting     Full-text available via subscription   (Followers: 4)
Advances in Life Course Research     Hybrid Journal   (Followers: 8, SJR: 0.764, h-index: 15)
Advances in Lipobiology     Full-text available via subscription   (Followers: 2)
Advances in Magnetic and Optical Resonance     Full-text available via subscription   (Followers: 9)
Advances in Marine Biology     Full-text available via subscription   (Followers: 16, SJR: 1.645, h-index: 45)
Advances in Mathematics     Full-text available via subscription   (Followers: 10, SJR: 3.261, h-index: 65)
Advances in Medical Sciences     Hybrid Journal   (Followers: 5, SJR: 0.489, h-index: 25)
Advances in Medicinal Chemistry     Full-text available via subscription   (Followers: 5)
Advances in Microbial Physiology     Full-text available via subscription   (Followers: 4, SJR: 1.44, h-index: 51)
Advances in Molecular and Cell Biology     Full-text available via subscription   (Followers: 22)
Advances in Molecular and Cellular Endocrinology     Full-text available via subscription   (Followers: 10)
Advances in Molecular Toxicology     Full-text available via subscription   (Followers: 7, SJR: 0.324, h-index: 8)
Advances in Nanoporous Materials     Full-text available via subscription   (Followers: 4)
Advances in Oncobiology     Full-text available via subscription   (Followers: 3)
Advances in Organometallic Chemistry     Full-text available via subscription   (Followers: 15, SJR: 2.885, h-index: 45)
Advances in Parallel Computing     Full-text available via subscription   (Followers: 7, SJR: 0.148, h-index: 11)
Advances in Parasitology     Full-text available via subscription   (Followers: 7, SJR: 2.37, h-index: 73)
Advances in Pediatrics     Full-text available via subscription   (Followers: 21, SJR: 0.4, h-index: 28)
Advances in Pharmaceutical Sciences     Full-text available via subscription   (Followers: 13)
Advances in Pharmacology     Full-text available via subscription   (Followers: 15, SJR: 1.718, h-index: 58)
Advances in Physical Organic Chemistry     Full-text available via subscription   (Followers: 7, SJR: 0.384, h-index: 26)
Advances in Phytomedicine     Full-text available via subscription  
Advances in Planar Lipid Bilayers and Liposomes     Full-text available via subscription   (Followers: 3, SJR: 0.248, h-index: 11)
Advances in Plant Biochemistry and Molecular Biology     Full-text available via subscription   (Followers: 8)
Advances in Plant Pathology     Full-text available via subscription   (Followers: 5)
Advances in Porous Media     Full-text available via subscription   (Followers: 4)
Advances in Protein Chemistry     Full-text available via subscription   (Followers: 18)
Advances in Protein Chemistry and Structural Biology     Full-text available via subscription   (Followers: 19, SJR: 1.5, h-index: 62)
Advances in Psychology     Full-text available via subscription   (Followers: 58)
Advances in Quantum Chemistry     Full-text available via subscription   (Followers: 5, SJR: 0.478, h-index: 32)
Advances in Radiation Oncology     Open Access  
Advances in Small Animal Medicine and Surgery     Hybrid Journal   (Followers: 2, SJR: 0.1, h-index: 2)
Advances in Space Research     Full-text available via subscription   (Followers: 339, SJR: 0.606, h-index: 65)
Advances in Structural Biology     Full-text available via subscription   (Followers: 8)
Advances in Surgery     Full-text available via subscription   (Followers: 6, SJR: 0.823, h-index: 27)
Advances in the Study of Behavior     Full-text available via subscription   (Followers: 29, SJR: 1.321, h-index: 56)
Advances in Veterinary Medicine     Full-text available via subscription   (Followers: 15)
Advances in Veterinary Science and Comparative Medicine     Full-text available via subscription   (Followers: 13)
Advances in Virus Research     Full-text available via subscription   (Followers: 5, SJR: 1.878, h-index: 68)
Advances in Water Resources     Hybrid Journal   (Followers: 43, SJR: 2.408, h-index: 94)
Aeolian Research     Hybrid Journal   (Followers: 5, SJR: 0.973, h-index: 22)
Aerospace Science and Technology     Hybrid Journal   (Followers: 308, SJR: 0.816, h-index: 49)
AEU - Intl. J. of Electronics and Communications     Hybrid Journal   (Followers: 8, SJR: 0.318, h-index: 36)
African J. of Emergency Medicine     Open Access   (Followers: 5, SJR: 0.344, h-index: 6)
Ageing Research Reviews     Hybrid Journal   (Followers: 7, SJR: 3.289, h-index: 78)
Aggression and Violent Behavior     Hybrid Journal   (Followers: 422, SJR: 1.385, h-index: 72)
Agri Gene     Hybrid Journal  
Agricultural and Forest Meteorology     Hybrid Journal   (Followers: 15, SJR: 2.18, h-index: 116)
Agricultural Systems     Hybrid Journal   (Followers: 30, SJR: 1.275, h-index: 74)
Agricultural Water Management     Hybrid Journal   (Followers: 38, SJR: 1.546, h-index: 79)
Agriculture and Agricultural Science Procedia     Open Access  
Agriculture and Natural Resources     Open Access   (Followers: 1)
Agriculture, Ecosystems & Environment     Hybrid Journal   (Followers: 50, SJR: 1.879, h-index: 120)
Ain Shams Engineering J.     Open Access   (Followers: 5, SJR: 0.434, h-index: 14)
Air Medical J.     Hybrid Journal   (Followers: 5, SJR: 0.234, h-index: 18)
AKCE Intl. J. of Graphs and Combinatorics     Open Access   (SJR: 0.285, h-index: 3)
Alcohol     Hybrid Journal   (Followers: 10, SJR: 0.922, h-index: 66)
Alcoholism and Drug Addiction     Open Access   (Followers: 6)
Alergologia Polska : Polish J. of Allergology     Full-text available via subscription   (Followers: 1)
Alexandria Engineering J.     Open Access   (Followers: 1, SJR: 0.436, h-index: 12)
Alexandria J. of Medicine     Open Access  
Algal Research     Partially Free   (Followers: 8, SJR: 2.05, h-index: 20)
Alkaloids: Chemical and Biological Perspectives     Full-text available via subscription   (Followers: 3)
Allergologia et Immunopathologia     Full-text available via subscription   (Followers: 1, SJR: 0.46, h-index: 29)
Allergology Intl.     Open Access   (Followers: 5, SJR: 0.776, h-index: 35)
ALTER - European J. of Disability Research / Revue Européenne de Recherche sur le Handicap     Full-text available via subscription   (Followers: 6, SJR: 0.158, h-index: 9)
Alzheimer's & Dementia     Hybrid Journal   (Followers: 46, SJR: 4.289, h-index: 64)
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring     Open Access   (Followers: 5)
Alzheimer's & Dementia: Translational Research & Clinical Interventions     Open Access   (Followers: 3)
American Heart J.     Hybrid Journal   (Followers: 47, SJR: 3.157, h-index: 153)
American J. of Cardiology     Hybrid Journal   (Followers: 44, SJR: 2.063, h-index: 186)
American J. of Emergency Medicine     Hybrid Journal   (Followers: 34, SJR: 0.574, h-index: 65)
American J. of Geriatric Pharmacotherapy     Full-text available via subscription   (Followers: 6, SJR: 1.091, h-index: 45)
American J. of Geriatric Psychiatry     Hybrid Journal   (Followers: 15, SJR: 1.653, h-index: 93)
American J. of Human Genetics     Hybrid Journal   (Followers: 30, SJR: 8.769, h-index: 256)
American J. of Infection Control     Hybrid Journal   (Followers: 24, SJR: 1.259, h-index: 81)
American J. of Kidney Diseases     Hybrid Journal   (Followers: 32, SJR: 2.313, h-index: 172)
American J. of Medicine     Hybrid Journal   (Followers: 44, SJR: 2.023, h-index: 189)
American J. of Medicine Supplements     Full-text available via subscription   (Followers: 3)
American J. of Obstetrics and Gynecology     Hybrid Journal   (Followers: 179, SJR: 2.255, h-index: 171)
American J. of Ophthalmology     Hybrid Journal   (Followers: 54, SJR: 2.803, h-index: 148)
American J. of Ophthalmology Case Reports     Open Access   (Followers: 2)
American J. of Orthodontics and Dentofacial Orthopedics     Full-text available via subscription   (Followers: 6, SJR: 1.249, h-index: 88)
American J. of Otolaryngology     Hybrid Journal   (Followers: 23, SJR: 0.59, h-index: 45)
American J. of Pathology     Hybrid Journal   (Followers: 23, SJR: 2.653, h-index: 228)
American J. of Preventive Medicine     Hybrid Journal   (Followers: 21, SJR: 2.764, h-index: 154)
American J. of Surgery     Hybrid Journal   (Followers: 33, SJR: 1.286, h-index: 125)
American J. of the Medical Sciences     Hybrid Journal   (Followers: 12, SJR: 0.653, h-index: 70)
Ampersand : An Intl. J. of General and Applied Linguistics     Open Access   (Followers: 5)
Anaerobe     Hybrid Journal   (Followers: 4, SJR: 1.066, h-index: 51)
Anaesthesia & Intensive Care Medicine     Full-text available via subscription   (Followers: 53, SJR: 0.124, h-index: 9)
Anaesthesia Critical Care & Pain Medicine     Full-text available via subscription   (Followers: 5)
Anales de Cirugia Vascular     Full-text available via subscription  
Anales de Pediatría     Full-text available via subscription   (Followers: 2, SJR: 0.209, h-index: 27)
Anales de Pediatría (English Edition)     Full-text available via subscription  
Anales de Pediatría Continuada     Full-text available via subscription   (SJR: 0.104, h-index: 3)
Analytic Methods in Accident Research     Hybrid Journal   (Followers: 2, SJR: 2.577, h-index: 7)
Analytica Chimica Acta     Hybrid Journal   (Followers: 38, SJR: 1.548, h-index: 152)
Analytical Biochemistry     Hybrid Journal   (Followers: 160, SJR: 0.725, h-index: 154)
Analytical Chemistry Research     Open Access   (Followers: 8, SJR: 0.18, h-index: 2)
Analytical Spectroscopy Library     Full-text available via subscription   (Followers: 10)
Anesthésie & Réanimation     Full-text available via subscription  
Anesthesiology Clinics     Full-text available via subscription   (Followers: 21, SJR: 0.421, h-index: 40)
Angiología     Full-text available via subscription   (SJR: 0.124, h-index: 9)
Angiologia e Cirurgia Vascular     Open Access  
Animal Behaviour     Hybrid Journal   (Followers: 153, SJR: 1.907, h-index: 126)
Animal Feed Science and Technology     Hybrid Journal   (Followers: 5, SJR: 1.151, h-index: 83)
Animal Reproduction Science     Hybrid Journal   (Followers: 5, SJR: 0.711, h-index: 78)
Annales d'Endocrinologie     Full-text available via subscription   (SJR: 0.394, h-index: 30)
Annales d'Urologie     Full-text available via subscription  
Annales de Cardiologie et d'Angéiologie     Full-text available via subscription   (SJR: 0.177, h-index: 13)
Annales de Chirurgie de la Main et du Membre Supérieur     Full-text available via subscription  
Annales de Chirurgie Plastique Esthétique     Full-text available via subscription   (Followers: 2, SJR: 0.354, h-index: 22)
Annales de Chirurgie Vasculaire     Full-text available via subscription   (Followers: 1)

        1 2 3 4 5 6 7 8 | Last   [Sort by number of followers]   [Restore default list]

Journal Cover Annales d'Endocrinologie
  [SJR: 0.394]   [H-I: 30]   [0 followers]  Follow
    
   Full-text available via subscription Subscription journal
   ISSN (Print) 0003-4266
   Published by Elsevier Homepage  [3042 journals]
  • From the shortest to the tallest
    • Authors: Albert Beckers
      Pages: 75 - 76
      Abstract: Publication date: June 2017
      Source:Annales d'Endocrinologie, Volume 78, Issue 2
      Author(s): Albert Beckers


      PubDate: 2017-05-27T16:43:13Z
      DOI: 10.1016/j.ando.2017.05.001
       
  • Une petite taille multifactorielle chez une patiente atteinte d’un
           syndrome de Turner
    • Authors: Anne-Sophie Azzi; Valérie Badot; Bernard Corvilain; Agnès Burniat
      First page: 137
      Abstract: Publication date: June 2017
      Source:Annales d'Endocrinologie, Volume 78, Issue 2
      Author(s): Anne-Sophie Azzi, Valérie Badot, Bernard Corvilain, Agnès Burniat
      Introduction Le syndrome de Turner est une maladie génétique liée à la perte partielle ou complète d’un des deux chromosomes X, se manifestant essentiellement par une insuffisance ovarienne primaire et une petite taille. Ce syndrome peut être associé à plusieurs affections auto-immunitaires pouvant également influencer la croissance. Un déficit vrai en hormone de croissance (GH) est très rarement impliqué. Observations Une patiente d’origine équatorienne consulte pour petite taille à son arrivée en Belgique vers l’âge de 12 ans. Elle mesure alors 103cm (−6,6 DS) pour 19kg (−4,6 DS). Sa taille cible génétique est de 148cm (−2,6 DS). Un syndrome de Turner (caryotype mosaïque) est diagnostiqué et un traitement par GH recombinante a débuté. Elle présente par ailleurs une polyarthrite juvénile idiopathique systémique sévère, érosive et déformante, diagnostiquée en Équateur vers l’âge de 6 ans, responsable d’une déformation sévère de ses membres inférieurs (genu varum) et sous corticothérapie. Un sevrage progressif en corticoïde a débuté, parallèlement à l’amorce d’autres traitements immunosuppresseurs. Sa corticothérapie au long court se complique d’une insuffisance surrénalienne secondaire, d’une ostéonécrose aseptique des deux hanches et d’une ostéoporose sévère exacerbée par une incompliance médicamenteuse globale. Une hypothyroïdie sur thyroïdite auto-immune est également diagnostiquée à l’âge adulte. Sa taille finale est de 123cm (−7,3 DS). Une épreuve d’hypoglycémie insulinique réalisée à l’âge de 28 ans confirme l’absence de déficit sévère en GH. Discussion Dans le syndrome de Turner, la taille adulte dépend essentiellement de l’âge de début et de la durée du traitement par GH, des doses utilisées et de la taille cible génétique. Outre la génétique, la particulièrement petite taille observée dans notre cas s’explique par la corticothérapie au long cours, l’ostéoporose sévère et la polyarthrite déformante. Enfin, l’incompliance médicamenteuse reste une problématique majeure chez ces jeunes patients atteints d’affections chroniques.

      PubDate: 2017-05-27T16:43:13Z
      DOI: 10.1016/j.ando.2017.04.015
       
  • Acrodysostose de type 1 ou iPPSD4 (inactivating PTH/PTHrP signaling
           disorder 4) : les enjeux de la prise en charge pendant la transition
    • Authors: Anne-Sophie Azzi; Natacha Driessens; Agnès Linglart; Bernard Corvilain; Cécile Brachet; Claudine Heinrichs; Erika Boros
      First page: 137
      Abstract: Publication date: June 2017
      Source:Annales d'Endocrinologie, Volume 78, Issue 2
      Author(s): Anne-Sophie Azzi, Natacha Driessens, Agnès Linglart, Bernard Corvilain, Cécile Brachet, Claudine Heinrichs, Erika Boros
      Introduction L’acrodysostose correspond à un syndrome de dysplasie squelettique rare caractérisé par une très petite taille finale, des malformations osseuses des mains et des pieds (brachydactylie sévère), une dysostose faciale avec hypoplasie nasale et un retard mental de sévérité variable. Cette pathologie, autrefois apparentée à la pseudo-hypoparathyroïdie type 1a (PHP1a), peut être associée à des résistances aux hormones se liant aux récepteurs couplés aux protéines G impliquées dans la voie de l’AMP cyclique. Plusieurs mutations de différents gènes dépendants de cette voie (GNAS, PRKAR1A, PDE4D) donnant un phénotype similaire, une nouvelle classification basée sur les caractères génotypiques a récemment été proposée. Observations Notre patiente est suivie depuis l’âge de 3,5 ans pour un retard statural associé à une surcharge pondérale dans un contexte de dysmorphie. Elle est née à terme avec un poids de 2,2kg (−3,7 DS) pour une taille de 42cm (−5 DS). Le bilan hormonal évoquait une pseudo-hypoparathyroïdie type1 (PHP1) avec résistance à la PTH et à la TSH. Les caractéristiques dysmorphiques (brachymétacarpie, anomalies des 3e et 5e métatarsiens avec raccourcissement des 3 derniers orteils) étaient suggestives d’une acrodysostose, confirmée par la présence d’une mutation (Q372X) du gène codant la PRKAR1A. Cette pathologie correspond à une iPPSD4 selon la nouvelle classification de l’EuroPHP. La patiente a bénéficié d’un traitement par calcitriol et L-thyroxine avec incompliance thérapeutique majeure. Elle est actuellement âgée de 25 ans, pèse 90kg pour une taille de 136cm (−5 DS). Le dernier dosage de TSH était à 100 mU/L (N 0,4–4,0). Discussion La chronicité des traitements, la dysmorphie, l’obésité et les complications métaboliques font de l’acrodysostose une pathologie lourde sur le plan physique et psychologique surtout à la transition et compliquent l’insertion psychosociale. De plus, l’incompliance thérapeutique est un facteur limitant fréquent dans la prise en charge de ces patients, déjà difficilement autonomes.

      PubDate: 2017-05-27T16:43:13Z
      DOI: 10.1016/j.ando.2017.04.016
       
  • Syndrome de Waardenburg associant un déficit complet en GH
    • Authors: Dia Eddine Boudiaf; Nora Soumeya Fedala
      First page: 138
      Abstract: Publication date: June 2017
      Source:Annales d'Endocrinologie, Volume 78, Issue 2
      Author(s): Dia Eddine Boudiaf, Nora Soumeya Fedala
      Introduction Le syndrome de Waardenburg (SW) est une maladie génétique autosomique dominante. Son incidence est de 1/270 000 naissances associant des anomalies de la pigmentation de la peau ou des cheveux ou de l’iris. Observation Enfant âgé de 15 ans hospitalisé pour complément d’exploration d’un nanisme harmonieux (−4 DS/taille moyenne, −3 DS/taille cible) avec retard de l’âge osseux=11 ans. D’emblée l’examen clinique révèle un syndrome dysmorphique associant une mèche blanche, un iris bicolore, élargissement de la base du nez, hypoplasie des ailes du nez et d’autres signes dysmorphiques : visage triangulaire, microrétrognathisme, oreilles discrètement bas implantées, atrophie du muscle sourcilier droit avec déficit de sa surélévation. Par ailleurs, l’examen génital retrouve un statut G1P1A1 de Tanner avec micropénis. Après avoir éliminé les causes générales, l’exploration hormonale revient en faveur d’un déficit complet en hormone de croissance (tests dynamiques après imprégnation ostrogénique). L’IRM hypothalamo-hypophysaire objective une hypophyse hypoplasique à 2mm avec rupture de la tige et une post-hypophyse ectopique en position infindibulaire. L’enfant a été substitué par hormone de croissance. Discussion Le SW est un groupe d’affections héréditaires plurimalformatives regroupant des anomalies morphologiques faciales, des troubles de la dépigmentation et parfois une surdité neurosensorielle. Il s’agit d’une malformation occulo-dermato-auditive autosomique dominante à expression variable. Les sous-types de ce syndrome étant secondaires à des mutations de PAX3 au locus 2q35, MITF, EDNRB, EDN3. Toute ces mutations sont capables de modifier la différentiation, la migration ou encore la survie de certaines cellules dérivées de la crête neurale : les mélanocytes. L’association d’une petite taille a été expliquée dans certaines observations par une haplo-insuffisance du gènes PAX3 et EPHA4 impliqués dans la délétion. Dans notre observation, une autre malformation est décrite, impliquant la participation de l’endocrinologue dans la prise en charge multidisciplinaire du SW.

      PubDate: 2017-05-27T16:43:13Z
      DOI: 10.1016/j.ando.2017.04.017
       
  • La neuropathie périphérique est une complication fréquente de
           l’acromégalo-gigantisme
    • Authors: Alexandre Dormoy; Marie Puerto; Gaëlle Lethielleux; Seray genc; Jérôme Bertherat
      First page: 138
      Abstract: Publication date: June 2017
      Source:Annales d'Endocrinologie, Volume 78, Issue 2
      Author(s): Alexandre Dormoy, Marie Puerto, Gaëlle Lethielleux, Seray genc, Jérôme Bertherat
      L’acromégalo-gigantisme est secondaire à une hypersécrétion de GH précédant la fusion des cartilages de croissance. Une grande taille a été associée à un risque accru de neuropathie sensitive, mais cette complication est peu décrite chez les patients présentant un gigantisme. Méthode Étude monocentrique rétrospective de 3 patients acromégales mesurant plus de 2m30. Patient 1 : 32 ans, 2m37. Diagnostic d’acromégalie (mutation d’AIP) à 25 ans : macroadénome invasif 56×29mm, GH : 717 mUI/L ; IGF1 : 914ng/mL. Traitement par chirurgie, radiothérapie, somatostatine, cabergoline et pegvisomant permettant un contrôle partiel. Il présente une neuropathie périphérique clinique avec abolition des réflexes achilléens et altération de la sensibilité superficielle, des orteils en griffe et une hyperkératose, compliquée d’une plaie du 3e orteil droit à l’âge de 31 ans. Patient 2 : 34 ans, 2m46. Diagnostic d’acromégalie à 24 ans : macroadénome 21×20mm, GH à 45ng/mL. Opéré à 2 reprises et traité par analogue de la somatostatine, avec contrôle optimal. Il présente une neuropathie périphérique axonale, bilatérale, longueur dépendante, confirmée par un électromyogramme réalisé à 29 ans, essentiellement sensitive, associée à quelques éléments moteurs électriquement. Patient 3 : 29 ans, 2m33. Diagnostic d’acromégalie à 27 ans : macroadénome invasif 32×24mm, GH : 205 mUI/L, IGF 1 : 955ng/mL. Chirurgie, puis traitement médical par cabergoline. Il présente une neuropathie périphérique sensitive aux membres inférieurs, bilatérale (prédominant du côté gauche), avec abolition des réflexes achilléens, paresthésies, altération de la pallesthésie, de la sensibilité épicritique et de la sensibilité thermoalgique. En dehors d’un diabète chez le 1er patient bien équilibré sous monothérapie orale et sans autre complication microangopathique, il n’est pas retrouvé chez ces 3 patients de facteur favorisant évident de neuropathie. La neuropathie périphérique est une complication fréquente de l’acromégalo-gigantisme et doit être recherchée systématiquement pour prévenir les complications trophiques.

      PubDate: 2017-05-27T16:43:13Z
      DOI: 10.1016/j.ando.2017.04.018
       
  • Poursuite de la croissance à l’âge adulte dans un syndrome
           charge
    • Authors: Linda Humbert; Stéphanie Espiard; Kenza Benomar; Catherine Vincent-Delorme; Marie-Christine Vantyghem
      First page: 138
      Abstract: Publication date: June 2017
      Source:Annales d'Endocrinologie, Volume 78, Issue 2
      Author(s): Linda Humbert, Stéphanie Espiard, Kenza Benomar, Catherine Vincent-Delorme, Marie-Christine Vantyghem
      Le syndrome charge est caractérisé par l’association d’un colobome, d’une cardiopathie, d’une atrésie des choanes, d’un retard de croissance et de développement, d’une hypoplasie génitale et d’une anomalie des oreilles. Ce syndrome est lié dans deux tiers des cas à une mutation autosomique dominante du gène CHD7 (chromatin helicase DNA binding protein 7, chromosome 8) impliqué dans le remodelage de la chromatine, dont certains variants sont liés à des hypogonadismes hypogonadotropes±anosmie. Nous décrivons le cas d’un homme de 31 ans souffrant d’un syndrome charge, porteur d’une mutation stop hétérozygote p.Arg1494Ter au niveau de l’exon 19 du gène CHD7, adressé pour prise de taille de 8cm entre l’âge de 27 et 31 ans. L’évolution de la croissance s’est faite sur la courbe de −3 DS la première année de vie, pour atteindre −1,5 DS, avec notion d’un traitement par GH ente 8 et 11 ans. Cliniquement, outre un retard mental assez profond, le patient présentait un hypogonadisme franc (absence de pilosité, gynécomastie bilatérale, micropénis. Il pesait 78,5kg pour 1,79m et présentait une saillie des arcades sourcilières, une augmentation du volume céphalique, une amyotrophie des éminences hypothénar, une implantation basse des oreilles et un raccourcissement des 3e et 4e métacarpiens. Le bilan hormonal confirmait un hypogonadisme hypogonadotrope : testostéronémie : 0,21ng/mL (N>2,4), testostérone/SBP : 0,9 (28<N<78), FSH et LH indétectables. Les autres axes hypothalamo-hypophysaires, notamment somatotrope, et l’HPO étaient normaux. L’ostéodensitométrie montrait une ostéoporose sévère (T-score fémoral et vertébral<−3,5 DS). La grande taille était attribuée à une soudure incomplète des cartilages de conjugaison. En conclusion, une poursuite de la croissance à l’âge adulte doit évoquer un hypogonadisme hypogonadotrope. Cependant, cette situation n’est pas rapportée dans la littérature consacrée au syndrome charge, suggérant une autre cause associée, malgré une étude en CGH-array pangénomique normale chez ce patient.

      PubDate: 2017-05-27T16:43:13Z
      DOI: 10.1016/j.ando.2017.04.019
       
  • Syndrome néphrotique et retard de croissance : impact de la
           corticothérapie au long court chez une fillette diabétique de
           type 1 suivie au centre antidiabétique d’Abidjan
    • Authors: Félix Kouamé Acka; Leila Peuhmond Konan; Franck Kokora Ekou
      First page: 139
      Abstract: Publication date: June 2017
      Source:Annales d'Endocrinologie, Volume 78, Issue 2
      Author(s): Félix Kouamé Acka, Leila Peuhmond Konan, Franck Kokora Ekou
      Introduction Chez l’enfant, le syndrome néphrotique est le plus souvent d’origine idiopathique et cortico-sensible ou pas. Le retard de croissance du fait de la pathologie et de l’excès en corticoïdes constitue une problématique spécifique chez l’enfant. Le présent cas clinique illustre l’impact de la corticothérapie au long court sur le métabolisme glucidique le développement staturo-pondéral de l’enfant. Présentation du cas Fillette de 8 ans dont le tableau d’anasarque a été révélateur d’un syndrome néphrotique au décours duquel un diabète est apparu sous le mode d’une hyperglycémie modérée non cétosique insulinotraité. L’évolution a été émaillée durant les 57 mois de corticothérapie par la survenue d’infections virale et bactérienne (varicelle, bronchopneumopathie) et d’un ralentissement de la courbe de croissance staturo-pondérale en dessous du 3e percentile. Cependant, trois mois après l’arrêt du prednisone, on note une rémission complète traduite par une négativation de la protéinurie. L’équilibre métabolique quant à lui demeure insatisfaisant avec une hémoglobine glyquée moyenne de 10 %. Seul l’axe thyréotrope a été exploré et n’a rien objectivé. Commentaires L’une des problématiques reste la prise en charge psychologique de la fillette et des parents face à ce retard de croissance en comparaison avec la fratrie. La surveillance et l’espérance restent de mise pour une reprise spontanée de l’activité de croissance dans un contexte social ou la prise en charge psychothérapeutique relève du luxe.

      PubDate: 2017-05-27T16:43:13Z
      DOI: 10.1016/j.ando.2017.04.020
       
  • Puberté précoce révélant un syndrome de McCune Albright : à propos
           d’un cas
    • Authors: Rhita Zbadi; Sara Derrou; Hassan Ouleghzal; Soumia Safi
      First page: 139
      Abstract: Publication date: June 2017
      Source:Annales d'Endocrinologie, Volume 78, Issue 2
      Author(s): Rhita Zbadi, Sara Derrou, Hassan Ouleghzal, Soumia Safi
      Introduction Le syndrome de McCune Albright (SMA) est classiquement défini par la triade clinique : dysplasie osseuse fibreuse, tâches cutanées café au lait et endocrinopathies dont la plus fréquente est la puberté précoce. Lié à une mutation somatique de la sous-unité α de la protéine Gs, ce syndrome conduit à une activation constitutive de l’adénylate cyclase, à la production excessive de l’AMPc. Observation Nous rapportons le cas d’une patiente de 3 ans, sans notion de cosanguinité, consultant pour saignements vaginaux évoluant depuis 1 an avec développement mammaire. La patiente pesait 12,5 kg (−1DS) pour une taille de 91 cm (N). L’examen des OGE révélait une croissance des petites lèvres, une œstrogénisation de la muqueuse vulvovaginale et hyménale, une pigmentation vulvaire et des saignements vaginaux avec des seins stade II de Tanner et absence de pilosité pubienne ou axillaire. On notait une tâche cutanée café au lait à contours irréguliers au niveau des fesses sans lentigine ni neurofibrome cutané. L’examen ne retrouvait pas de signes d’hyperandrogénie, ni de déformations ou douleurs osseuses. L’évaluation hormonale objectivait une franche hyperœstrogénie avec gonadotrophines effondrées : œstradiol : 240,7pmol/L (<70) FSH : 0,10ui/l (4) LH : 0,10ui/l (1,4), absence de réponse des gonadotrophines au test LHRH attestant de l’origine périphérique, inhibine B : 40pg/mL (<20), bilan thyroidien normal, IGF1 : 98ng/ml (49–283), marqueurs tumoraux négatifs (hCG, ACE, AFP), bilan phosphocalcique normal, des OPK à l’échographie pelvienne avec utérus postpubère. L’AO était de 3 ans, les radiographies ne détectaient pas de lésions osseuses. L’étude moléculaire des leucocytes n’a pas révélé de mutation, les prélèvements tissulaires n’ont pas été réalisés. Un traitement par anti-aromatase (létrozole) à la dose de 2,5mg/j permettant la régression des CSS, la disparition des métrorragies amélioration de l’hyperœstrogénie avec bonne tolérance hépatique avec un recul de 18 mois. Conclusion Le diagnostic de SMA n’est pas toujours simple, particulièrement en l’absence de la triade classique. L’accent doit être posé sur le jugement clinique avec une attention sur les aspects de l’histoire du patient, la séquence des événements pubertaires, la clinique, la biologique et l’imagerie. Les inhibiteurs de l’aromatase laissent espérer une bonne amélioration clinique.

      PubDate: 2017-05-27T16:43:13Z
      DOI: 10.1016/j.ando.2017.04.021
       
  • Clinical follow-up of the first SF-1 insufficient female patient
    • Authors: Karine Gerster; Anna Biason-Lauber; Eugen J. Schoenle
      Abstract: Publication date: Available online 16 June 2017
      Source:Annales d'Endocrinologie
      Author(s): Karine Gerster, Anna Biason-Lauber, Eugen J. Schoenle
      Objective Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian function was increasingly discussed and alterations in the gene were related to primary ovarian insufficiency. We describe the follow-up of a 46, XX affected woman with a SF-1 mutation and by comparing our case with the known manifestations reported in the literature, we try to further elucidate the function of SF-1 in the ovary. Results During infancy, adrenal insufficiency was the only clinical sign of the loss-of-function as ovarian development and function seemed normal. To date, this young woman aged 16.5 years shows normal growth, normal BMI and psychomotor development, has a normal puberty and regular menstruation. Conclusion This report shows one, to date uniquely described, phenotypic variant of SF-1 mutation in a 46, XX affected person with adrenocortical insufficiency but no ovarian dysfunction nor disturbance of pubertal development. To follow the natural history of SF-1 mutation in a 46, XX individual will further shed light on its role in the ovarian function and thus will help to counsel affected patients in future.

      PubDate: 2017-06-17T09:31:36Z
      DOI: 10.1016/j.ando.2017.01.002
       
  • Association of apolipoprotein A5 gene variants with metabolic syndrome in
           Tunisian population
    • Authors: Rym Kefi; Meriem Hechmi; Hamza Dallali; Sahar Elouej; Haifa Jmel; Yossra Ben Halima; Majdi Nagara; Mariem Chargui; Sihem Ben Fadhel; Safa Romdhane; Ines Kamoun; Zinet Turki; Abdelmajid Abid; Sonia Bahri; Afaf Bahlous; Ramon Gomis; Abdelhamid Baraket; Florin Grigorescu; Christophe Normand; Henda Jamoussi; Sonia Abdelhak
      Abstract: Publication date: Available online 16 June 2017
      Source:Annales d'Endocrinologie
      Author(s): Rym Kefi, Meriem Hechmi, Hamza Dallali, Sahar Elouej, Haifa Jmel, Yossra Ben Halima, Majdi Nagara, Mariem Chargui, Sihem Ben Fadhel, Safa Romdhane, Ines Kamoun, Zinet Turki, Abdelmajid Abid, Sonia Bahri, Afaf Bahlous, Ramon Gomis, Abdelhamid Baraket, Florin Grigorescu, Christophe Normand, Henda Jamoussi, Sonia Abdelhak
      Aim of the study APOA5 has been linked to metabolic syndrome (MetS) or its traits in several populations. In North Africa, only the Moroccan population was investigated. Our aim is to assess the association between APOA5 gene polymorphisms with the susceptibility to MetS and its components in the Tunisian population. Materials and methods A total of 594 participants from the Tunisian population were genotyped for two polymorphisms rs3135506 and rs651821 located in APOA5 gene using KASPar technology. Statistical analyses were performed using R software. Results The SNP rs651821 increased the risk of MetS under the dominant model (OR=1.91 [1.17–3.12], P =0.008) whereas the variant rs3135506 was not associated with MetS. After stratification of the cohort following the sex, only the variant rs651821 showed a significant association with MetS among the women group. The influence of the geographic origin of the studied population on the genotype distribution of APOA5 variants showed that the variant rs651821 was significantly associated with MetS only for the Northern population. The association analyses of the variants rs651821 and rs3135506 with different quantitative traits of MetS showed a significant association only between the variant rs3135506 and triglycerides levels. Conclusion This is the first study reporting the association of APOA5 gene variants with MetS in Tunisia. Our study emphasizes the role of APOA5 variants in the regulation of the triglycerides blood levels. Further studies are needed to confirm the clinical relevance of these associations and to better understand the physiopathology of the MetS.

      PubDate: 2017-06-17T09:31:36Z
      DOI: 10.1016/j.ando.2017.01.005
       
  • Which origin for polycystic ovaries syndrome: Genetic, environmental or
           both?
    • Authors: Patrick Fenichel; Charlotte Rougier; Sylvie Hieronimus; Nicolas Chevalier
      Abstract: Publication date: Available online 9 June 2017
      Source:Annales d'Endocrinologie
      Author(s): Patrick Fenichel, Charlotte Rougier, Sylvie Hieronimus, Nicolas Chevalier
      Polycystic ovaries syndrome (PCOS), the most common female endocrine disorder, affects 7–10% of women of childbearing age. It includes ovarian hyperandrogenism, impaired follicular maturation, anovulation and subfertility. Insulin resistance, although present in most cases, is not necessary for diagnosis. It increases hyperandrogenism and long-term metabolic, cardiovascular and oncological risks. The origin of hyperandrogenism and hyperinsulinemia has a genetic component, as demonstrated by familial aggregation studies and recent identification of associated genomic variants, conferring a particular susceptibility to the syndrome. However, experimental and epidemiological evidences also support a developmental origin via a deleterious foetal environment, concerning the endocrine status (foetal hyperandrogenism), the nutritional level (intrauterine growth retardation), or the toxicological exposure (endocrine disruptors). Epigenetic changes recently reported in the literature as associated with PCOS, enhance this hypothesis of foetal reprogramming of the future adult ovarian function by environmental factors. Better characterisation of these genetic, epigenetic, or environmental factors, could lead to earlier prevention and more efficient treatments.

      PubDate: 2017-06-12T04:34:39Z
      DOI: 10.1016/j.ando.2017.04.024
       
  • Radioactive iodine therapy, molecular imaging and serum biomarkers for
           differentiated thyroid cancer: 2017 guidelines of the French Societies of
           Nuclear Medicine, Endocrinology, Pathology, Biology, Endocrine Surgery and
           Head and Neck Surgery
    • Authors: Slimane Zerdoud; Anne-Laure Giraudet; Sophie Leboulleux; Laurence Leenhardt; Stéphane Bardet; Jérôme Clerc; Marie-Elisabeth Toubert; Abir Al Ghuzlan; Pierre-Jean Lamy; Claire Bournaud; Isabelle Keller; Frédéric Sebag; Renaud Garrel; Eric Mirallié; Lionel Groussin; Elif Hindié; David Taïeb
      Abstract: Publication date: Available online 1 June 2017
      Source:Annales d'Endocrinologie
      Author(s): Slimane Zerdoud, Anne-Laure Giraudet, Sophie Leboulleux, Laurence Leenhardt, Stéphane Bardet, Jérôme Clerc, Marie-Elisabeth Toubert, Abir Al Ghuzlan, Pierre-Jean Lamy, Claire Bournaud, Isabelle Keller, Frédéric Sebag, Renaud Garrel, Eric Mirallié, Lionel Groussin, Elif Hindié, David Taïeb


      PubDate: 2017-06-02T05:06:29Z
      DOI: 10.1016/j.ando.2017.04.023
       
  • Biology of the somatotroph axis (after the pituitary)
    • Authors: Ron G. Rosenfeld; Vivian Hwa
      Abstract: Publication date: Available online 8 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Ron G. Rosenfeld, Vivian Hwa
      Normal growth requires that pituitary-secreted growth hormone (GH) bind to its specific receptor and activate a complex signaling cascade, leaving to production of insulin-like growth factor-I (IGF-I), which, in turn, activates its own receptor (IGF1R). The GH receptor (GHR) is preformed as a dimer and is transported in a nonligand bound state to the cell surface. Binding of GH to the GHR dimer, results in a conformational change of the dimer, activation of the intracellular Janus Kinase 2 (JAK2) and phosphorylation of signal transducer and activator of transcription (STAT) 5B. Phosphorylated STAT5B dimers are then translocated to the nucleus, where they transcriptionally activate multiple genes, including those for IGF-I, IGF binding protein-3 and the acid-labile subunit (ALS).

      PubDate: 2017-05-13T13:01:19Z
      DOI: 10.1016/j.ando.2017.04.002
       
  • Endocrine perturbations in POEMS syndrome: Misunderstood features of a
           rare paraneoplastic syndrome
    • Authors: Maud Marchand; Julien Haroche; Philippe Touraine; Carine Courtillot
      Abstract: Publication date: Available online 8 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Maud Marchand, Julien Haroche, Philippe Touraine, Carine Courtillot


      PubDate: 2017-05-13T13:01:19Z
      DOI: 10.1016/j.ando.2017.01.004
       
  • Bone dysplasia
    • Authors: Agnès Linglart; Valérie Merzoug; Anne-Sophie Lambert; Catherine Adamsbaum
      Abstract: Publication date: Available online 8 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Agnès Linglart, Valérie Merzoug, Anne-Sophie Lambert, Catherine Adamsbaum
      Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features such as disproportionate trunk/limbs, short limbs or extremities and/or stocky build, (ii) radiographic features to analyze mineralization, maturation and bone morphology, and (iii) whenever possible, the genetic characterization. Bone dysplasia mostly affect many organs, and therefore require multidisciplinary follow-up and care. The role of the pediatric endocrinologist is to assess the growth potential of these patients in coordination with the other caregivers, offer the best management of the growth to limit the psychosocial consequences of the extreme short stature and bone deformities.

      PubDate: 2017-05-13T13:01:19Z
      DOI: 10.1016/j.ando.2017.04.011
       
  • Regulation of growth: Epigenetic mechanisms?
    • Authors: Laurent Kappeler; Maud Clemessy; Sarah Saget; Lyvianne Decourtye; Yves Le Bouc
      Abstract: Publication date: Available online 5 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Laurent Kappeler, Maud Clemessy, Sarah Saget, Lyvianne Decourtye, Yves Le Bouc
      Organism development is controlled by both genetic programs and the environment to insure a reproductive success as adults. Linear growth is an important part of the development and is mostly controlled by genetic factors. However, the variability of height in a given species does not seem to be specifically associated with SNP. This suggests that environment may play a crucial role. In agreement, an important part of height-related genes present CpG island in their proximal promoter, indicating potential involvement of epigenetic mechanisms. In mammals, the linear growth is regulated by the IGF system, with IGF-I and IGF-II during the fetal period, and IGF-I being included within the somatotropic axis during the postnatal period. Nutrition during the lactating period programs linear growth and adult size through a modulation of the somatotropic axis development and of the setting of its activity later on. The study of underlying mechanisms suggest two waves of programming, which involve both structural adaptation during the early postnatal period and permanent functional adaptation in adulthood. The former may involve a direct stimulation of axon growth of GHRH neurons by IGF-I in first weeks of life while the latter could involve permanent epigenetic modifications in adulthood.

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.04.004
       
  • How to investigate a child with excessive growth?
    • Authors: Régis Coutant; Aurélie Donzeau; Anne Decrequy; Mathilde Louvigné; Natacha Bouhours-Nouet
      Abstract: Publication date: Available online 5 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Régis Coutant, Aurélie Donzeau, Anne Decrequy, Mathilde Louvigné, Natacha Bouhours-Nouet
      The diagnostic approach to tall stature in children is based on collecting birth data (macrosomia), sizes and family puberty, a family history of constitutional or pathological tall stature, search for a delay of development, dysmorphia, disproportion, analysis of the growth velocity (normal or accelerated), general examination and assessment of puberty, and bone age. When there is a history of psychomotor retardation, a family history of pathological tall stature, or a disproportion in the clinical examination, the genetic causes of tall stature will be mentioned. The most frequent causes are Marfan syndrome and similar, Sotos syndrome, Beckwith-Wiedemann syndrome, Klinefelter syndrome, and MEN2B. There are many genetic syndromes with tall stature, justifying consultation with the geneticist. When the speed of growth is accelerated, first of all it evokes puberty and early pseudopuberty, obesity and acromegaly. Finally, when the growth velocity is regular, and the parents are of tall stature, it evokes constitutional tall stature: this is the most frequent diagnosis, to retain after having rejected pathological tall statures.

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.04.006
       
  • Lessons from monogenic causes of growth hormone deficiency
    • Authors: Thierry Brue; Alexandru Saveanu; Nicolas Jullien; Teddy Fauquier; Frédéric Castinetti; Alain Enjalbert; Anne Barlier; Rachel Reynaud
      Abstract: Publication date: Available online 5 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Thierry Brue, Alexandru Saveanu, Nicolas Jullien, Teddy Fauquier, Frédéric Castinetti, Alain Enjalbert, Anne Barlier, Rachel Reynaud
      Through the multicentric international GENHYPOPIT network, 10 transcription factor genes involved in pituitary development have been screened in more than 1200 patients with constitutional hypopituitarism over the past two decades. The present report summarizes the main lessons learned from this phenotype-based genetic screening: (1) genetically determined hypopituitarism does not necessarily present during childhood; (2) constitutional hypopituitarism may be characterized by a pure endocrine phenotype or by various combinations of endocrine deficits and visceral malformations; (3) syndromic hypopituitarism may also be observed in patients with POU1F1 or PROP1 mutations; (4) in cases of idiopathic hypopituitarism, extensive genetic screening identifies gene alterations in a minority of patients; (5) functional studies are imperfect in determining the involvement of an allelic variant in a specific pituitary phenotype.

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.04.001
       
  • Endocrine disrupting chemicals and growth of children
    • Authors: Jérémie Botton; Manik Kadawathagedara; Blandine de Lauzon-Guillain
      Abstract: Publication date: Available online 5 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Jérémie Botton, Manik Kadawathagedara, Blandine de Lauzon-Guillain
      According to the “environmental obesogen hypothesis”, early-life (including in utero) exposure to endocrine disrupting chemicals (EDCs) may disturb the mechanisms involved in adipogenesis or energy storage, and thus may increase the susceptibility to overweight and obesity. Animal models have shown that exposure to several of these chemicals could induce adipogenesis and mechanisms have been described. Epidemiological studies are crucial to know whether this effect could also be observed in humans. We aimed at summarizing the literature in epidemiology on the relationship between EDCs exposure and child's growth. Overall, epidemiological studies suggest that pre- and/or early postnatal exposure to some EDCs may increase the risk of overweight or obesity during childhood. In that review, we present some limitations of these studies, mainly in exposure assessment, that currently prevent to conclude about causality. Recent advances in epidemiology should bring further knowledge.

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.04.009
       
  • Secular trends in growth
    • Authors: Julie Fudvoye; Anne-Simone Parent
      Abstract: Publication date: Available online 5 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Julie Fudvoye, Anne-Simone Parent
      Human adult height has been increasing world-wide for a century and a half. The rate of increase depends on time and place of measurement. Final height appears to have reached a plateau in Northern European countries but it is still increasing in southern European countries as well as Japan. While mean birth length has not changed recently in industrialized countries, the secular trend finally observed in adult height mostly originates during the first 2 years of life. Secular trend in growth is a marker of public health and provides insights into the interaction between growth and environment. It has been shown to be affected by income, social status, infections and nutrition. While genetic factors cannot explain such rapid changes in average population height, epigenetic factors could be the link between growth and environment.

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.04.003
       
  • AIP mutations and gigantism
    • Authors: Liliya Rostomyan; Iulia Potorac; Pablo Beckers; Adrian F. Daly; Albert Beckers
      Abstract: Publication date: Available online 5 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Liliya Rostomyan, Iulia Potorac, Pablo Beckers, Adrian F. Daly, Albert Beckers
      AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤30 years). AIP mutations are most prevalent in patients with pituitary gigantism (29% of this group were found to have mutations in AIP gene). These data support targeted genetic screening for AIP mutations/deletions in these groups of pituitary adenoma patients. Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities.

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.04.012
       
  • Adipsic diabetes insipidus revealing a bifocal intracranial germinoma
    • Authors: Julie Kreutz; Iulia Potorac; Laurence Lutteri; Christine Gennigens; Didier Martin; Adrian F. Daly; Jean-Francois Bonneville; Luaba Tshibanda; Albert Beckers
      Abstract: Publication date: Available online 5 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Julie Kreutz, Iulia Potorac, Laurence Lutteri, Christine Gennigens, Didier Martin, Adrian F. Daly, Jean-Francois Bonneville, Luaba Tshibanda, Albert Beckers
      Adipsic diabetes insipidus is a rare complication of intracranial tumors in which impaired antidiuretic hormone secretion is associated with the loss of thirst sensation. Here, we present the case of a patient with bifocal intracranial germinoma, diagnosed due to symptoms mainly caused by adipsic diabetes insipidus. This is, to our knowledge, the first case of adipsic diabetes insipidus revealing an intracranial germinoma reported in the literature. We describe the diagnostic procedures and the three-year follow-up of this patient. Management of intracranial germ-cell tumors is made complex by the wide range of histological features. Although germinomas have a generally better prognosis than most nongerminomatous tumors, they can have severe or even life-threatening presentations. Adipsic diabetes insipidus is one such severe presentation and its rarity can make it difficult to recognize and manage. Awareness of this potential entity is therefore important for clinical practice.

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2016.10.005
       
  • Hibernoma and multiple endocrine neoplasia type 1 syndrome: A
           non-fortuitous association? A case report and literature review
    • Authors: Lucien Marchand; Myriam Decaussin-Petrucci; Sophie Giraud; François Cotton; Charles Thivolet; Chantal Simon
      Abstract: Publication date: Available online 4 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Lucien Marchand, Myriam Decaussin-Petrucci, Sophie Giraud, François Cotton, Charles Thivolet, Chantal Simon


      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.03.001
       
  • Imprinted disorders and growth
    • Authors: Éloïse Giabicani; Frédéric Brioude; Yves Le Bouc; Irène Netchine
      Abstract: Publication date: Available online 4 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Éloïse Giabicani, Frédéric Brioude, Yves Le Bouc, Irène Netchine
      Fetal growth is a complex process. Its restriction is associated with morbidity and long-term metabolic consequences. Imprinted genes have a critical role in mammalian fetal growth. Beckwith–Wiedemann syndrome (BWS) and Silver–Russell syndrome (SRS) are two imprinting disorders with opposite fetal growth disturbance. SRS is leading to severe fetal and postnatal growth retardation with severe feeding difficulties during early childhood and long-term metabolic consequences and BWS is an overgrowth syndrome with an enhanced risk of tumors during childhood. Epigenetic (abnormal methylation at the imprinting center regions) or genetic (mutations, duplications, uniparental disomy [UPD]) including defects of imprinted genes on chromosome 11 (BWS and SRS), 7 (SRS) and more recently 14 (SRS) have been identified in these two syndromes. In humans, the 11p15 region contains genes important for the regulation of fetal and postnatal growth. This region includes two imprinted domains: the IGF2/H19 domain regulated by imprinting center region 1 (ICR1 or H19/IGF2:IG-DMR) and the CDKN1C/KCNQ1OT1 domain regulated by ICR2 (or KCNQ1OT1: TSS DMR).

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.04.010
       
  • What treatment for a child with tall stature?
    • Authors: Thomas Edouard
      Abstract: Publication date: Available online 4 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Thomas Edouard
      Tall stature is statistically defined as a height standard deviation score (SDS) above 2 for a given age, sex and population group. The most common cause of tall stature is constitutional (often familial) tall stature. However, underlying endocrine or genetic disorders must be considered as some of them may require specific treatment or management. In constitutional tall stature, healthy children are referred to discuss treatment aiming at reducing adult height. The indications of treatment are rare and usually discussed in girls with extremely tall stature (height SDS>4, corresponding to 185cm in girls). The treatment options for tall children are limited and concerns have been raised about their long-term safety. Indeed, recent studies have suggested that high-dose estrogens in adolescent girls may be associated with an increased risk of infertility, as well as increased risk of cancer. Surgical epiphysiodesis has also been reported to reduce adult height but this invasive procedure in healthy children can be questionable and further data on its safety profile are required.

      PubDate: 2017-05-08T04:56:47Z
      DOI: 10.1016/j.ando.2017.04.007
       
  • Final height and intrauterine growth retardation
    • Authors: Tauber
      Abstract: Publication date: Available online 4 May 2017
      Source:Annales d'Endocrinologie
      Author(s): Maïthé Tauber
      Approximately 10% of small for gestational age (SGA) children maintain a small body size throughout childhood and often into adult life with a decreased pubertal spurt. Growth hormone (GH) therapy increases short-term growth in a dose–dependent manner and adult height had now been well documented. Shorter children might benefit from a higher dose at start (50μg/kg/day). The response to GH treatment was similar for both preterm and term short SGA groups and the effect of GH treatment on adult height showed a wide variation in growth response. As a whole, mean adult height is higher than −2 SDS in 60% of patients and 70% reached an adult height in their target height with better results with higher doses and combined GnRH analog therapy in those who were short at onset of puberty.

      PubDate: 2017-05-08T04:56:47Z
       
  • Have we finally solve the enigma of the small size of Pygmies?
    • Authors: Yves Le Bouc
      Abstract: Publication date: Available online 28 April 2017
      Source:Annales d'Endocrinologie
      Author(s): Yves Le Bouc
      Pygmies are considered to be among the smallest humans. Their small size is an enigma that has puzzled numerous scientists. Many data have been collected concerning their clinical and biological phenotypes, genetics, lifestyle, culture and environment, but the reasons for their small size remain a matter of debate. Is it an adaptation to life in the tropical forest, an impact of the environment, an usual genetic feature or a mixture of these factors? Studies of the somatotropic axis have revealed that serum IGF-1 concentrations are low in this population, probably due to an impairment of the GH receptor. However, many uncertainties remain, and further hormonal, genetic and epigenetic studies will be required in the framework of multidisciplinary studies.

      PubDate: 2017-05-02T18:37:18Z
      DOI: 10.1016/j.ando.2017.04.022
       
  • How should we investigate children with growth failure?
    • Authors: Juliane
      Abstract: Publication date: Available online 28 April 2017
      Source:Annales d'Endocrinologie
      Author(s): Juliane Léger
      The early diagnosis of short stature is essential for effective management and treatment. Investigations for children with growth failure are required to distinguish between idiopathic short stature due to physiological variants (familial short stature, and constitutional delays of growth and puberty, or both), primary causes of short stature, such as syndromic and/or genetic defects and skeletal dysplasia, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases.

      PubDate: 2017-05-02T18:37:18Z
       
  • X-LAG: How did they grow so tall?
    • Authors: Albert Beckers; Liliya Rostomyan; Iulia Potorac; Pablo Beckers; Adrian F. Daly
      Abstract: Publication date: Available online 27 April 2017
      Source:Annales d'Endocrinologie
      Author(s): Albert Beckers, Liliya Rostomyan, Iulia Potorac, Pablo Beckers, Adrian F. Daly
      X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset occurring before the age of 5 in all cases described to date, which is significantly younger than in other forms of pituitary gigantism. These patients have mixed GH and prolactin positive adenomas and/or mixed-cell hyperplasia and highly elevated levels of GH/IGF-1 and prolactin. Given their particularly young age of onset, the significant GH hypersecretion can lead to a phenotype of severe gigantism with very advanced age-specific height Z-scores. If not adequately treated in childhood, this condition results in extreme final adult height. XLAG has a clinical course that is highly similar to some of the tallest people with gigantism in history.

      PubDate: 2017-05-02T18:37:18Z
      DOI: 10.1016/j.ando.2017.04.013
       
  • How to recognize Cowden syndrome: A novel PTEN mutation description
    • Authors: Pauline Delannoy; François Guillaume Debray; Alain Verloes; Albert Beckers; Hernan Valdes-Socin
      Abstract: Publication date: Available online 2 March 2017
      Source:Annales d'Endocrinologie
      Author(s): Pauline Delannoy, François Guillaume Debray, Alain Verloes, Albert Beckers, Hernan Valdes-Socin


      PubDate: 2017-03-08T05:17:35Z
      DOI: 10.1016/j.ando.2017.01.001
       
  • Biotin interferes with free thyroid hormone and thyroglobulin, but not TSH
           measurements using Beckman-Access immunoassays
    • Authors: Soo Kyung Lim; Antoine Pilon; Jérôme Guéchot
      Abstract: Publication date: Available online 13 February 2017
      Source:Annales d'Endocrinologie
      Author(s): Soo Kyung Lim, Antoine Pilon, Jérôme Guéchot


      PubDate: 2017-02-16T06:05:44Z
      DOI: 10.1016/j.ando.2016.08.001
       
  • Usefulness of a systematic screening of carotid atherosclerosis in
           asymptomatic people with type 2 diabetes for cardiovascular risk
           reclassification
    • Authors: Marjorie Helfre; Claire Grange; Benjamin Riche; Delphine Maucort-Boulch; Charles Thivolet; Julien Vouillarmet
      Abstract: Publication date: Available online 7 February 2017
      Source:Annales d'Endocrinologie
      Author(s): Marjorie Helfre, Claire Grange, Benjamin Riche, Delphine Maucort-Boulch, Charles Thivolet, Julien Vouillarmet
      Aims Routine screening of carotid atherosclerosis lesions is frequently suggested for people with type 2 diabetes, the presence of a carotid lesion being associated with a significant increase risk for vascular events. However, the impact of this strategy on medical management is not validated. We herein question the usefulness of such screening. Methods We assessed the prevalence and severity of carotid lesions in 337 consecutive people with type 2 diabetes without known cardiovascular disease who underwent a systematic carotid duplex ultrasonography. We analyzed whether the results of duplex ultrasonography allowed reclassification of cardiovascular risk level relative to the most recent international recommendations on diabetes and modified therapy. Results We found that 35.9% of people had no atherosclerotic lesion. Prevalence of carotid stenosis<20%, between 20 and 50% and ≥50% were 32.9%, 28.4% and 2.7% respectively. Regarding the use of statins and LDL-C target, the result of carotid duplex ultrasonography allowed to reclassify respectively 11.8% to 55.2% of the cohort in a higher cardiovascular risk level. For the indication of antiplatelet agent, reclassification in a higher risk level concerned 6.8% of the patients. No subject had an indication of carotid revascularization. Conclusions Carotid atherosclerosis is frequent in asymptomatic people with type 2 diabetes in primary cardiovascular prevention. Screening for carotid atherosclerosis by duplex ultrasonography seems useful to redefine the level of cardiovascular risk.

      PubDate: 2017-02-10T20:09:52Z
      DOI: 10.1016/j.ando.2016.12.001
       
  • Treatment by rituximab on six Grave's ophthalmopathies resistant to
           corticosteroids
    • Authors: Flavien Précausta; Sophie Arsène; Peggy Renoult-Pierre; Boris Laure; Lise Crinière; Pierre-Jean Pisella
      Abstract: Publication date: Available online 6 February 2017
      Source:Annales d'Endocrinologie
      Author(s): Flavien Précausta, Sophie Arsène, Peggy Renoult-Pierre, Boris Laure, Lise Crinière, Pierre-Jean Pisella
      Objectives Graves’ ophthalmopathy occurs in 50% of Graves’ disease cases. Treatment is based on smoking cessation, and control of the euthyroidism and ocular repercussions associated with the disease. The active orbital forms are treated with glucocorticoids. Non-validated therapies have also been recently tested. Rituximab has been effectively used several times to treat corticosteroid-resistant Graves’ ophthalmopathy associated with an optic neuropathy, but its use could be proposed only in inflammatory ophthalmopathies after failure of the corticosteroids. We present six cases treated since early 2012 at the University Hospital Center of Tours, France. Methods Six patients were treated at the University Hospital Center of Tours, France, between September 2012 and April 2014. The patients had a Mourits’ score greater than three after treatment with corticosteroids and/or a severe NOSPECS score and/or orbital inflammation resistant to maximal treatment with intravenous injections of methylprednisolone and an optic neuropathy. They twice received one gram of rituximab by slow intravenous injection two weeks apart. Efficacy was assessed by a decrease of the orbital inflammatory clinical Mourits’ score, and visual acuity and visual field testing. Results The inflammatory score of patients improved and treatment helped to stop the progression of the sequelae due to neuropathy. The orbital inflammatory clinical score, and the visual acuity and visual field improved but orbital decompression was necessary to complete the treatment. Conclusion Rituximab has been used for the treatment of active corticosteroid-resistant Graves’ ophthalmopathies. We also had positive results on patients with visual threat and optic neuropathy, when combined with surgical decompression.

      PubDate: 2017-02-10T20:09:52Z
      DOI: 10.1016/j.ando.2016.12.002
       
  • Stroke disclosing primary aldosteronism: Report on three cases and review
           of the literature
    • Authors: Amina Nasri; Malek Mansour; Zeineb Brahem; Amel Kacem; Ahmed Abou Hassan; Hager Derbali; Meriem Messelmani; Jamel Zaouali; Ridha Mrissa
      Abstract: Publication date: Available online 4 February 2017
      Source:Annales d'Endocrinologie
      Author(s): Amina Nasri, Malek Mansour, Zeineb Brahem, Amel Kacem, Ahmed Abou Hassan, Hager Derbali, Meriem Messelmani, Jamel Zaouali, Ridha Mrissa
      Objectives There is a growing evidence of increased risk of cerebrovascular events in primary aldosteronism (PA). Nevertheless, acute neurologic ailment as presenting feature of PA is uncommon. Our aim is to highlight the diagnosis challenges in stroke unmasking PA and to discuss the underlying physiopathology and management dilemmas. Materials and methods We hereby describe three consecutive rare cases of stroke revealing PA. All patients had brain imaging and thorough biological and morphological assessment to rule out other etiologies of stroke. The diagnosis of primary aldosteronism was established according to the Endocrine Society Clinical Practice Guideline, with a review of the literature on the spectrum of neurologic manifestations in PA. Results We report on three cases, two women and a man, presenting with ischemic or hemorrhagic stroke, of early onset in two of them. All of the reported patients had hypertension and hypokaliemia. This association prompted the assessment of renin angiotensin aldosterone system (RAAS) disclosing PA, which was due to bilateral adenomas in the first one or bilateral adrenal hyperplasia in the two others. All patients refused the surgical option and received spironolactone with recurrence of stroke in one of them due to treatment incompliance. Conclusion Although cerebrovascular events are quite common in PA, their occurrence as initial feature can be misleading. The association of hypokaliemia and refractory hypertension in ischemic or hemorrhagic strokes should prompt an assessment of the RAAS to rule out PA and initiate adequate management as soon as possible in order to avoid further complications.

      PubDate: 2017-02-10T20:09:52Z
      DOI: 10.1016/j.ando.2016.07.993
       
  • Consensus statement on the management of dyslipidaemias in adults
    • Authors: S. Béliard; F. Bonnet; B. Bouhanick; E. Bruckert; B. Cariou; S. Charrière; V. Durlach; P. Moulin; R. Valéro; B. Vergès
      Abstract: Publication date: Available online 12 January 2017
      Source:Annales d'Endocrinologie
      Author(s): S. Béliard, F. Bonnet, B. Bouhanick, E. Bruckert, B. Cariou, S. Charrière, V. Durlach, P. Moulin, R. Valéro, B. Vergès


      PubDate: 2017-01-20T05:24:39Z
      DOI: 10.1016/j.ando.2016.11.001
       
 
 
JournalTOCs
School of Mathematical and Computer Sciences
Heriot-Watt University
Edinburgh, EH14 4AS, UK
Email: journaltocs@hw.ac.uk
Tel: +00 44 (0)131 4513762
Fax: +00 44 (0)131 4513327
 
Home (Search)
Subjects A-Z
Publishers A-Z
Customise
APIs
Your IP address: 54.166.146.212
 
About JournalTOCs
API
Help
News (blog, publications)
JournalTOCs on Twitter   JournalTOCs on Facebook

JournalTOCs © 2009-2016