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ENDOCRINOLOGY (149 journals)                     

Showing 1 - 134 of 134 Journals sorted alphabetically
AACE Clinical Case Reports     Hybrid Journal   (Followers: 6)
Acta Diabetologica     Hybrid Journal   (Followers: 17)
Adipositas - Ursachen, Folgeerkrankungen, Therapie     Hybrid Journal   (Followers: 1)
Advances in Chronic Kidney Disease     Hybrid Journal   (Followers: 15)
Advances in Diabetes and Metabolism     Open Access   (Followers: 22)
Advances in Endocrinology     Open Access   (Followers: 7)
AJP Endocrinology and Metabolism     Hybrid Journal   (Followers: 25)
American Journal of Kidney Diseases     Hybrid Journal   (Followers: 53)
Annales d'Endocrinologie     Hybrid Journal   (Followers: 2)
Applied Physiology, Nutrition and Metabolism     Hybrid Journal   (Followers: 37)
Best Practice & Research Clinical Endocrinology & Metabolism     Hybrid Journal   (Followers: 15)
BMC Endocrine Disorders     Open Access   (Followers: 8)
Case Reports in Endocrinology     Open Access   (Followers: 3)
Clinical Diabetes     Full-text available via subscription   (Followers: 40)
Clinical Diabetes and Endocrinology     Open Access   (Followers: 20)
Clinical Endocrinology     Hybrid Journal   (Followers: 42)
Clinical Medicine Insights : Endocrinology and Diabetes     Open Access   (Followers: 29)
Clinical Nutrition Insight     Full-text available via subscription   (Followers: 13)
Clinical Reviews in Bone and Mineral Metabolism     Hybrid Journal  
Comprehensive Psychoneuroendocrinology     Open Access  
Current Opinion in Endocrine and Metabolic Research     Hybrid Journal   (Followers: 1)
Current Opinion in Endocrinology, Diabetes and Obesity     Hybrid Journal   (Followers: 48)
Dermato-Endocrinology     Open Access   (Followers: 3)
Diabesity     Open Access   (Followers: 3)
Diabetes & Metabolic Syndrome: Clinical Research & Reviews     Hybrid Journal   (Followers: 27)
Diabetes & Metabolism     Hybrid Journal   (Followers: 72)
Diabetes, Obesity and Metabolism     Hybrid Journal   (Followers: 260)
Diabetes/Metabolism Research and Reviews     Hybrid Journal   (Followers: 63)
Diabetology & Metabolic Syndrome     Open Access   (Followers: 8)
Discover Oncology     Open Access   (Followers: 1)
Domestic Animal Endocrinology     Hybrid Journal   (Followers: 6)
Dubai Diabetes and Endocrinology Journal     Open Access  
Egyptian Journal of Obesity, Diabetes and Endocrinology     Open Access   (Followers: 1)
Endocrine     Hybrid Journal   (Followers: 11)
Endocrine and Metabolic Science     Open Access   (Followers: 1)
Endocrine Connections     Open Access   (Followers: 4)
Endocrine Disruptors     Open Access  
Endocrine Journal     Open Access   (Followers: 13)
Endocrine Pathology     Hybrid Journal   (Followers: 7)
Endocrine Practice     Hybrid Journal   (Followers: 58)
Endocrine Regulations     Open Access  
Endocrine Research     Hybrid Journal   (Followers: 3)
Endocrine Reviews     Full-text available via subscription   (Followers: 44)
Endocrine, Metabolic & Immune Disorders - Drug Targets     Hybrid Journal   (Followers: 1)
Endocrine-Related Cancer     Full-text available via subscription   (Followers: 2)
Endocrinología, Diabetes y Nutrición (English Edition)     Hybrid Journal   (Followers: 2)
Endocrinology     Full-text available via subscription   (Followers: 50)
Endocrinology and Metabolism Clinics of North America     Full-text available via subscription   (Followers: 28)
Endocrinology, Diabetes & Metabolism     Open Access  
Endocrinology, Diabetes & Metabolism Case Reports     Open Access  
Endocrinology, Obesity and Metabolic Disorders     Full-text available via subscription   (Followers: 6)
Endokrynologia Polska     Open Access   (Followers: 2)
European Journal of Endocrinology     Full-text available via subscription   (Followers: 40)
European Thyroid Journal     Full-text available via subscription   (Followers: 3)
Experimental and Clinical Endocrinology & Diabetes     Hybrid Journal   (Followers: 24)
Experimental and Clinical Endocrinology & Diabetes Reports     Open Access   (Followers: 4)
Expert Opinion on Drug Metabolism & Toxicology     Hybrid Journal   (Followers: 15)
Expert Review of Endocrinology & Metabolism     Hybrid Journal   (Followers: 7)
Frontiers in Clinical Diabetes and Healthcare     Open Access  
Frontiers in Endocrinology     Open Access   (Followers: 5)
Frontiers in Neuroendocrine Science     Open Access  
Frontiers in Neuroendocrinology     Hybrid Journal   (Followers: 10)
General and Comparative Endocrinology     Hybrid Journal   (Followers: 5)
Growth Hormone & IGF Research     Hybrid Journal   (Followers: 14)
Gynakologische Endokrinologie     Hybrid Journal  
Gynecological Endocrinology     Hybrid Journal   (Followers: 5)
Hormone and Metabolic Research     Hybrid Journal   (Followers: 16)
Hormone Research in Paediatrics     Full-text available via subscription   (Followers: 16)
Hormones : International Journal of Endocrinology and Metabolism     Hybrid Journal  
Hormones and Behavior     Hybrid Journal   (Followers: 12)
Indian Journal of Endocrinology and Metabolism     Open Access   (Followers: 4)
International Journal of Clinical Endocrinology and Metabolism     Open Access   (Followers: 1)
International journal of endocrine oncology     Open Access  
International Journal of Endocrinology     Open Access   (Followers: 3)
International Journal of Endocrinology     Open Access   (Followers: 1)
International Journal of Endocrinology and Metabolism     Open Access   (Followers: 3)
International Journal of Obesity     Hybrid Journal   (Followers: 90)
International Journal of Osteoporosis and Metabolic Disorders     Open Access   (Followers: 1)
International Journal of Pediatric Endocrinology     Open Access   (Followers: 11)
JIMD Reports     Open Access  
Journal für Gynäkologische Endokrinologie/Österreich     Hybrid Journal  
Journal für Klinische Endokrinologie und Stoffwechsel : Austrian Journal of Clinical Endocrinology and Metabolism     Hybrid Journal  
Journal of Bone and Mineral Metabolism     Hybrid Journal   (Followers: 5)
Journal of Clinical and Translational Endocrinology     Open Access  
Journal of Clinical and Translational Endocrinology Case Reports     Open Access   (Followers: 2)
Journal of Clinical Endocrinology & Metabolism     Full-text available via subscription   (Followers: 141)
Journal of Developmental Origins of Health and Disease     Hybrid Journal   (Followers: 2)
Journal of Diabetes and Endocrinology     Open Access   (Followers: 7)
Journal of Diabetes and Endocrinology Assocation of Nepal     Open Access  
Journal of Diabetes and Metabolic Disorders     Open Access   (Followers: 8)
Journal of Diabetes Science and Technology     Hybrid Journal   (Followers: 13)
Journal of Diabetology     Open Access   (Followers: 1)
Journal of Endocrinological Investigation     Full-text available via subscription   (Followers: 7)
Journal of Endocrinology     Full-text available via subscription   (Followers: 13)
Journal of Endocrinology and Metabolism     Open Access   (Followers: 5)
Journal of Endocrinology and Reproduction     Hybrid Journal  
Journal of Endocrinology, Metabolism and Diabetes of South Africa     Open Access   (Followers: 8)
Journal of Inborn Errors of Metabolism and Screening     Open Access  
Journal of Molecular Endocrinology     Full-text available via subscription   (Followers: 5)
Journal of Neuroendocrinology     Hybrid Journal   (Followers: 8)
Journal of Pineal Research     Hybrid Journal   (Followers: 1)
Journal of Renal and Hepatic Disorders     Open Access  
Journal of Restorative Medicine     Open Access  
Journal of Social Health and Diabetes     Open Access   (Followers: 1)
Journal of the ASEAN Federation of Endocrine Societies     Open Access  
Kidney International     Hybrid Journal   (Followers: 52)
Kidney Research Journal     Open Access   (Followers: 6)
L'Endocrinologo     Hybrid Journal  
Metabolic Brain Disease     Hybrid Journal   (Followers: 1)
Metabolic Syndrome and Related Disorders     Hybrid Journal   (Followers: 5)
Metabolism     Hybrid Journal   (Followers: 11)
Molecular and Cellular Endocrinology     Hybrid Journal   (Followers: 8)
Molecular Metabolism     Open Access   (Followers: 9)
Nature Reviews Endocrinology     Full-text available via subscription   (Followers: 60)
Neuroendocrinology     Full-text available via subscription   (Followers: 8)
Nigerian Endocrine Practice     Full-text available via subscription  
Nutrition in Clinical Practice     Hybrid Journal   (Followers: 43)
Open Journal of Endocrine and Metabolic Diseases     Open Access   (Followers: 1)
Psychoneuroendocrinology     Hybrid Journal   (Followers: 15)
Reproductive Biology and Endocrinology     Open Access   (Followers: 3)
Reproductive Endocrinology     Open Access   (Followers: 1)
Reviews in Endocrine and Metabolic Disorders     Hybrid Journal   (Followers: 2)
Revista Argentina de Endocrinología y Metabolismo     Open Access  
Revista Cubana de Endocrinología     Open Access  
Revista Venezolana de Endocrinología y Metabolismo     Open Access  
Sri Lanka Journal of Diabetes Endocrinology and Metabolism     Open Access  
The Endocrinologist     Full-text available via subscription   (Followers: 6)
The Lancet Diabetes and Endocrinology     Full-text available via subscription   (Followers: 170)
Therapeutic Advances in Endocrinology and Metabolism     Open Access   (Followers: 5)
Thyroid     Hybrid Journal   (Followers: 11)
Thyroid Research     Open Access   (Followers: 3)
Thyroid Research and Practice     Open Access   (Followers: 3)
Trends in Endocrinology & Metabolism     Full-text available via subscription   (Followers: 19)
Vitamins & Hormones     Full-text available via subscription   (Followers: 1)


Similar Journals
Journal Cover
Case Reports in Endocrinology
Journal Prestige (SJR): 0.209
Citation Impact (citeScore): 1
Number of Followers: 3  

  This is an Open Access Journal Open Access journal
ISSN (Print) 2090-6501 - ISSN (Online) 2090-651X
Published by Hindawi Homepage  [339 journals]
  • Be(a)ware of Leukocytosis in Papillary Thyroid Cancer

    • Abstract: Leukocytosis can be present at any time during various malignancies. A 42-year-old male was admitted to our department for surgical management of his metastatic papillary thyroid cancer. Persistent white blood cell (WBC) elevation with left shift led to a thorough investigation. Having excluded other causes, leukocytosis was attributed to thyroid cancer itself. Positive immunostaining for IL-6 and CEA, as well as elevated serum levels, established this connection.
      PubDate: Sat, 16 Jul 2022 07:50:01 +000
  • Adrenal Mass in a 70-Year-Old Woman

    • Abstract: Introduction. Adrenocortical carcinoma is a rare endocrine malignancy with a bimodal age distribution pattern that affects women more than men. More than half of the patients present with hormone excess manifestations such as Cushing’s syndrome and virilization. Non-functional tumors usually are diagnosed incidentally following imaging studies due to a mass effect or metastatic disease. Surgical resection is considered the best curative treatment for these tumors. Case Presentation. A 70-year-old woman presented with a 3-month history of diffuse intermittent abdominal discomfort, weight loss, and additional hair growth. Imaging investigations revealed a large 187 × 85 × 140 mm mass between the liver and upper pole of the right kidney which has displaced the adjacent structures. Hormonal evaluations detected high levels of cortisol and adrenal androgens. She underwent open adrenalectomy and right nephrectomy due to severe adhesion of the mass. Histopathological evaluations revealed adrenocortical carcinoma and the patient received adjuvant radiotherapy. Conclusion. Precise physical examination, hormonal evaluation, and imaging studies play a key role in differentiating malignant adrenal masses in all patients, especially in those with vague symptoms. Radical excision of the mass and appropriate adjuvant chemotherapy or radiotherapy improve the outcome for patients.
      PubDate: Tue, 12 Jul 2022 10:20:01 +000
  • Challenges of Diagnosing Pseudohypoaldosteronism (PHA) in an Infant

    • Abstract: Background. Pseudohypoaldosteronism (PHA) is characterized by renal tubular resistance to aldosterone. As a result, the symptoms typically involve hyperkalemia and hyponatremia. The aim of this clinical case report is to highlight the severe electrolyte imbalance PHA can present within an infant, as well as difficulties in diagnosing the condition. Case Presentation. A 5-week-old male arrived at the ER with episodes of emesis, lethargy, and difficulty in feeding. He had significant electrolyte abnormalities and was being treated by his PCP for failure to thrive. He presented with urinary sodium wasting, indicated by hyponatremia, hyperkalemia, low chloride, and hypercalcemia. Patient was treated with IVF and NaCl supplementation to normalize the electrolytes. The patient showed heterozygosity for a variant in the WNK1 gene, which typically causes Gordon syndrome; however, our patient had a normal blood pressure. The electrolyte imbalance self-resolved during several months of follow-up, and currently, the patient is not on any treatment.
      PubDate: Mon, 11 Jul 2022 13:05:00 +000
  • Pregnancy in a Transgender Male: A Case Report and Review of the

    • Abstract: Introduction. Pregnancy in transgender men is an area of increasing study due to data showing that pregnancy can occur in this population despite the reduction in fertility that generally accompanies treatment with gender-affirming hormone therapies. Case. In this case, we describe a healthy 21-year-old transgender man who was able to achieve pregnancy without reproductive assistance after stopping his testosterone therapy for 2 months. Discussion. Our case is important as it highlights how little is known in regards to gender-affirming hormone therapy on fertility. While testosterone is known to reduce fertility by inducing anovulation and altering ovarian histology, its long-term effects on conception rates and pregnancy are largely unknown. Some studies demonstrate that transgender men, treated with gender-affirming hormone therapy (GAHT), including testosterone, have similar oocyte quantity and quality, as well as similar ovarian reserve, when compared to cisgender women, suggesting that resumption of fertility may be possible after cessation of GAHT. Long-term outcomes for the pregnancy and the offspring of those who have been treated with GAHT are unknown. Conclusion. Recent studies have shown that pregnancy is possible for transgender men who desire biological children and have received gender-affirming hormonal therapy without fertility-preserving measures. Further research is needed to help determine rates of fertility, the likelihood of recovery of fertility, conception rates, and long-term pregnancy outcomes. Such information would help guide physicians in providing education and counseling to their transgender patients regarding reproductive options.
      PubDate: Wed, 29 Jun 2022 07:50:00 +000
  • A Dramatic Response of a Thyroid Lymphoma to R-CHOP Chemotherapy Reversing
           Mechanical Airway Obstruction and Respiratory Failure

    • Abstract: Primary thyroid lymphoma is an extremely rare thyroid malignancy that usually occurs in patients with preexisting Hashimoto thyroiditis and commonly presents in older women. The most common type is non-Hodgkin’s lymphoma of B-cell origin, particularly diffuse large B-cell lymphoma (DLBCL), which is primarily treated with chemotherapy and radiotherapy. We reported an 83-year-old woman with a past medical history of hypothyroidism who suffered dysphagia and dyspnea secondary to a large thyroid mass. Her CT neck scan showed an enlarged thyroid mass with pathological cervical lymphadenopathy and marked tracheal narrowing. The ultrasound-guided biopsy confirmed the diagnosis of DLBCL of the thyroid. A few days later, she experienced respiratory distress and failure that required endotracheal intubation and mechanical ventilation. She was not considered for tracheostomy or surgical interventions, and after discussion with her family, the decision was made to start R-CHOP therapy (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) which resulted in a marked reduction of the thyroid size and reversal of the mechanical airway obstruction, enabling her extubation. This case report demonstrated the dramatic response of a large thyroid lymphoma to R-CHOP therapy, reducing the thyroid size and its fatal obstructive complications, including mechanical airway obstruction, within a few days of the initiation of R-CHOP therapy.
      PubDate: Mon, 27 Jun 2022 10:50:00 +000
  • A Case of Gitelman Syndrome with Hypercalcemia Secondary to Primary

    • Abstract: Gitelman syndrome is a rare autosomal recessive salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria, and secondary hyperaldosteronism. However, hypercalcemia secondary to hypocalciuria is extremely rare during the disease. A 36-year-old normotensive man who suffered a motor vehicle accident was presented with hypokalemia, hypomagnesemia, and mild hypercalcemia. He had a past medical history significant for bipolar depression disorder and a history of chronic atrial fibrillation. He was diagnosed with Gitelman syndrome. However, he was noncompliant with his medications. A laboratory workup revealed hypokalemia, hypomagnesemia, hypercalcemia, and a high parathyroid hormone level. Thorough investigations identified primary hyperparathyroidism as the primary cause of hypercalcemia. To our knowledge, Gitelman syndrome and primary hyperparathyroidism are an extremely rare association that is present in our case.
      PubDate: Sat, 25 Jun 2022 03:50:00 +000
  • First Case Report of Arrhythmogenic Right Ventricular Cardiomyopathy
           Showing Refractory Ventricular Tachycardia Induced by Thyroid Storm due to
           Graves’ Disease

    • Abstract: A 48-year-old man who was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) due to a plakophilin 2 gene mutation developed acute both-sided heart failure with rapid atrial fibrillation and was hospitalized. After admission, sustained ventricular tachycardia, which was refractory to antiarrhythmic agents, occurred repeatedly, and required electrical cardioversion. He was diagnosed with thyroid storm due to Graves’ disease, and treatment for hyperthyroidism was initiated. After the treatment, lethal arrhythmia did not reoccur, and biventricular heart failure ameliorated. To our best knowledge, this is the first report in English of a patient with ARVC showing refractory arrhythmia induced by thyroid storm due to Graves’ disease.
      PubDate: Thu, 23 Jun 2022 10:35:01 +000
  • A Case of Subacute Thyroiditis following COVID-19 Infection

    • Abstract: Background/Objective. Since the start of the pandemic, COVID-19 has been associated with several postinfection complications. Subacute thyroiditis (SAT) is an inflammatory disorder of the thyroid that has been reported in the literature following COVID-19 infection. We report a case of SAT following COVID-19 infection. Case Report. A 33-year-old female presented with neck pain two weeks after resolution of COVID-19 infection. Her thyroid function tests together with ultrasonographic pictures were consistent with SAT. She was treated with three rounds of medrol dose pack without relief. She then required oral prednisone 40 mg per day and ibuprofen 800 mg once daily for another several weeks that eventually resulted in improvement of her symptoms. Discussion. SAT most commonly occurs in females during or after viral infection. The usual course of the disease is hyperthyroidism then hypothyroidism followed by resolution. SAT is clinically diagnosed by lab findings of decreased TSH in the setting of negative thyroid-stimulating and thyroid peroxidase antibodies. All these data are consistent with our case. Conclusion. SAT following COVID-19 infection presents with a similar clinical presentation and course as the classic form of SAT, but we should consider the fact that a high-dose corticosteroid treatment might be necessary for such patients.
      PubDate: Tue, 31 May 2022 10:05:00 +000
  • Primary Hypothyroidism with Pituitary Hyperplasia in an Omani Girl

    • Abstract: Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is uncommon in children and is reversible with thyroxine therapy. We report an Omani girl who presented at the age of 13 years and 6 months with profound primary hypothyroidism due to Hashimoto’s thyroiditis and secondary pituitary hyperplasia and hyperprolactinemia. Pituitary magnetic resonance imaging confirmed the presence of pituitary hyperplasia which regressed during follow-up after the administration of thyroxine therapy. The diagnosis of PHPH is very important in both children and adults in order to avoid unnecessary brain surgery or medical treatment for a presumed pituitary mass or adenoma. To our knowledge, this patient represents the first case of an Omani child presenting with PHPH.
      PubDate: Sun, 29 May 2022 12:35:00 +000
  • Central Diabetes Insipidus Induced by Acute Myeloid Leukemia with DNMT3A

    • Abstract: Central diabetes insipidus (CDI) is an uncommon complication of acute myeloid leukemia (AML). Patients present with polyuria either preceding or at the time of diagnosis of AML. We describe the case of a 36-year-old male who presented with a subacute onset of polyuria, polydipsia, nocturia, and fatigue. After an extensive workup, he was diagnosed with AML/CMML (chronic myelomonocytic leukemia) with a normal karyotype with DNMT3A, CBFB, and PTPN11 mutations. Further workup of the polyuria with a water deprivation test helped confirm the diagnosis of CDI along with MRI findings suggestive of hypophysitis. In this report, we analyze the clinical workup for AML and CDI and report the possibility of extramedullary leukemic infiltration associated with DNMT3A mutation, which has been reported as one of the mechanisms in the existing literature. We also discuss other theories hypothesized to cause CDI in AML patients with abnormal karyotypes. Our patient progressed to AML from CMML-2 after a cycle of decitabine, with confirmed gingival and presumed central nervous system (CNS) involvement. He is in minimal residual disease (MRD)-negative complete remission after induction with a CNS-active acute lymphoblastic leukemia-2 regimen. He also received double umbilical cord blood transplantation, conditioned with cyclophosphamide, fludarabine, thiotepa, and total body irradiation (TBI) of 4 Gy. This was complicated by engraftment syndrome for which he is currently being managed. CDI of the patient was corrected by desmopressin administration.
      PubDate: Mon, 23 May 2022 19:50:00 +000
  • Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a
           Young Child with 46, XX Karyotype: A Case Report and Review of the

    • Abstract: Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes, such as in pure or mixed gonadal dysgenesis and among females carrying Y chromosome material. However, it can be rarely present in normal women with 46, XX karyotype. Ovarian gonadoblastoma presenting with signs of contrasexual puberty in a young female child with normal 46, XX karyotype is an extremely rare clinical entity and seldom reported in the literature. We report a case of a nine-year-old girl child who presented with signs of virilization and contrasexual pubertal development. A detailed clinical evaluation along with supportive biochemical and radiological findings pointed to the presence of a virilizing ovarian tumor. The patient underwent right salpingo-oophorectomy, pelvic node dissection, and infracolic omentectomy. The excised tumor was confirmed to be gonadoblastoma which was overgrown by dysgerminoma on histopathological evaluation. The presence of associated malignant tumors (like dysgerminoma) should always be ruled out in cases of gonadoblastoma.
      PubDate: Mon, 23 May 2022 07:35:00 +000
  • Myxedema Coma Associated with Macroprolactinoma: Case Report and Review of
           the Literature

    • Abstract: Myxedema coma is a rare life-threatening presentation of severe hypothyroidism associated with a high mortality rate. Although most cases are due to primary thyroid failure, a minority have central hypothyroidism as the underlying cause. We report the case of a 69-year-old man who presented with obtundation, hypoglycemia, and hyponatremia. The patient’s initial thyroid-stimulating hormone (TSH) was within normal limits. Subsequent evaluation revealed critical anterior pituitary insufficiency due to a macroprolactinoma and a diagnosis of myxedema coma after appropriate workup The finding of a normal serum TSH should not eliminate the possibility of myxedema coma.
      PubDate: Thu, 28 Apr 2022 08:05:01 +000
  • A Glucagonoma Presenting as Cerebral Vein Thrombosis and Diabetes

    • Abstract: Glucagonomas are rare pancreatic neuroendocrine tumors (pNETs), malignant in 80% of cases, thus highlighting the importance of early diagnosis and treatment. Primary manifestations are diabetes, dermatosis, depression, weight loss, and deep vein thrombosis. Unlike other pNETs, glucagonomas are associated with a higher incidence of thromboembolic events, often resulting in death. We present the case of a glucagonoma patient whose primary manifestation was cerebral sinus venous thrombosis (CS-VT). Early diagnosis enabled curative resection. The purpose of this paper is to review the underlying mechanisms associated with increased coagulopathy in glucagonomas.
      PubDate: Fri, 22 Apr 2022 09:05:00 +000
  • Rare Association between Two Genetic Conditions: Turner Syndrome and
           Neurofibromatosis Type 1

    • Abstract: Turner’s syndrome (TS) is a sex chromosome disorder due to loss of either all or part of the X chromosome, in some or all the cells of the body. Neurofibromatosis type 1 (NF-1) is a multisystemic genetic disorder that is only rarely observed in association with Turner syndrome. Only six cases of Turner syndrome associated with NF-1 have been reported in the literature. In this study, we report the first case with TS and NF-1 in a Moroccan child. Case Report. A 16-year-old female was born of a nonconsanguineous marriage. In her family history, her mother had multiple café-au-lait spots with Lisch nodules on ophthalmologic examination. She was diagnosed with TS (karyotype: 45, X) due to short stature and characteristic features. The diagnosis of NF-1 was made according to the presence of four diagnostic criteria of the National Institute of Health Consensus Development Conference. Conclusion. Coexistence of NF-1 with TS is rare. We consider that this may be the seventh case report of TS associated with NF-1.
      PubDate: Fri, 15 Apr 2022 06:20:00 +000
  • Two Case Reports of Subacute Thyroiditis after Receiving Vaccine for

    • Abstract: The ongoing COVID-19 pandemic, caused by a coronavirus named SARS-CoV-2, has struck the planet with great force. As of December 2019, the virus has made its devasting route across all continents . In January 2022, the World Health Organization (WHO) registered over 5.5 million COVID-19 related deaths. Most of these people had suffered from pneumonia and acute respiratory distress syndrome , and in some cases, extensive damage to all organ systems. To get hold of this pandemic, it was vital to find effective vaccines against it. The two vaccine candidates BNT162b2 (BioNTech/Pfizer) and ChAdOx1 (University of Oxford and AstraZeneca) offer a high level of protection against COVID-19 by providing immunity due to antibody production against the spike protein of SARS-CoV-2. In addition to general side effects, immunological side effects such as subacute thyroiditis can follow the vaccination. This transient inflammatory condition of the thyroid gland is characterized with hyperthyroxinemia, inflammation, pain, and tenderness in the thyroid region, as well as an elevation of serum thyroglobulin concentration. There are only a few reports on the occurrence of this disease after receiving a COVID-19 vaccine. We present two cases of subacute thyroiditis after vaccination with the vaccines BNT162b2 and ChAdOx1 and try to enlighten the problem of immunological phenomena after vaccination. It must be discussed whether cross-reactivity of the spike protein and tissue proteins such as thyroid peroxidase (TPO), an “autoimmune/inflammatory syndrome by adjuvants” (ASIA), or the circulating spike protein itself after vaccination are responsible for the SAT.
      PubDate: Thu, 14 Apr 2022 04:50:01 +000
  • Cushing Syndrome in a Pediatric Patient with Topical Steroid Overuse

    • Abstract: Cushing syndrome is a state of hypercortisolism from exogenous or endogenous exposure to glucocorticoids resulting in various clinical manifestations. In this case report, we present a case of a 15-month-old child who presented with cushingoid facies due to over-the-counter misuse of a very potent topical steroid (clobetasol 0.05%) for suspected scabies. Laboratory measurement of urinary free cortisol level was low, and 8 : 00 am basal cortisol level was measured, which was decreased, which confirmed the diagnosis of Cushing syndrome due to exogenous source. Over-the-counter topical steroids should not be used, and one should always consult a registered medical practitioner before using such products. Physicians when prescribing topical steroids should warn patients about the potential side effects of prolonged use of topical steroids.
      PubDate: Mon, 11 Apr 2022 07:20:01 +000
  • Effect of Vandetanib Treatment on Cystic Changes in the Liver following
           Metastasis from Medullary Thyroid Carcinoma

    • Abstract: A number of causes are responsible for the development of cystic lesions in the liver. However, metastasis is a rare cause, and cystic metastasis from medullary thyroid carcinoma has not yet been reported. A 46-year-old Japanese man presented to our hospital with a mass in the left side of his neck. Neck and thyroid ultrasonography revealed a thyroid tumor with calcification and enlarged cervical lymph nodes. He had a family history of medullary thyroid cancer. Computed tomography revealed a tumor in the thyroid and multiple cysts in the liver. Total thyroidectomy with modified neck and upper mediastinum dissections were performed. After surgery, vandetanib treatment was initiated owing to tumor progression; following this, the liver cysts increased in size, abdominal distension appeared, and serum liver enzyme levels were found to be elevated. Percutaneous liver cyst puncture was performed to reduce abdominal distension; however, it was ineffective. The liver enzyme levels improved after replacing vandetanib with lenvatinib treatment. The liver cysts in this case were indicated to be associated with medullary thyroid carcinoma.
      PubDate: Wed, 06 Apr 2022 09:20:01 +000
  • Challenging Case of Ectopic ACTH Secretion from Prostate Adenocarcinoma

    • Abstract: Cushing’s syndrome (CS) secondary to ectopic adrenocorticotrophic hormone (ACTH)-producing prostate cancer is rare with less than 50 cases reported. The diagnosis can be challenging due to atypical and variable clinical presentations of this uncommon source of ectopic ACTH secretion. We report a case of Cushing’s syndrome secondary to prostate adenocarcinoma who presented with symptoms of severe hypercortisolism with recurrent hypokalaemia, limb oedema, limb weakness, and sepsis. He presented with severe hypokalaemia and metabolic alkalosis (potassium 2.5 mmol/L and bicarbonate 36 mmol/L), with elevated 8 am cortisol 1229 nmol/L. ACTH-dependent Cushing’s syndrome was diagnosed with inappropriately normal ACTH 57.4 ng/L, significantly elevated 24-hour urine free cortisol and unsuppressed cortisol after 1 mg low-dose, 2-day low-dose, and 8 mg high-dose dexamethasone suppression tests. 68Ga-DOTANOC PET/CT showed an increase in DOTANOC avidity in the prostate gland, and his prostate biopsy specimen was stained positive for ACTH and markers for neuroendocrine differentiation. He was started on ketoconazole, which was switched to IV octreotide in view of liver dysfunction from hepatic metastases. He eventually succumbed to the disease after 3 months of his diagnosis. It is imperative to recognize prostate carcinoma as a source of ectopic ACTH secretion as it is associated with poor clinical outcomes, and the diagnosis can be missed due to atypical clinical presentations.
      PubDate: Thu, 31 Mar 2022 06:05:00 +000
  • An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous
           Newborn with Disorders of Sex Development First Identified in Vietnam

    • Abstract: SRD5A2 (steroid 5-alpha-reductase 2) mutation, which impairs 5α-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro) of SRD5A2 gene in a compound heterozygous state first identified in a Vietnamese newborn with 5α-reductase-2 enzyme deficiency. We also first submitted this rare mutation to ClinVar database (VCV000973099.1). The patient presented with hyperpigmented labia-majora-like bifid scrotum, clitoris-like phallus, perineoscrotal hypospadias, and blind-ending vagina. The other mutation NM_000348.4:c.680G>A (NP_000339.2:p.Arg227Gln) was reported previously. This compound heterozygous mutation was first detected by next-generation sequencing. By Sanger sequencing, we confirmed that the c.485A>C mutation was maternal inherited, whereas the c.680G>A mutation was paternal inherited. Up to date, this is the first report of this rare compound heterozygous state of SRD5A2 c.485A>C and c.680G>A mutations in patients with 46,XY DSD generally as well as in Vietnamese population particularly and is also the second report in the world carrying the pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro). Our finding has enriched the understanding of the spectrum of SRD5A2 variants and phenotypic correlation in Asian patients with 46,XY DSD.
      PubDate: Sun, 27 Mar 2022 10:20:01 +000
  • Type 1 Diabetes (T1D) and Latent Autoimmune Diabetes in Adults (LADA): The
           Difference Between a Honeymoon and a Holiday

    • Abstract: Type 1 diabetes mellitus (T1D) is a chronic autoimmune disease in which destruction of the insulin-producing β-cells in the pancreatic islets requires regular lifelong insulin replacement therapy, the only lifesaving treatment available at this time. In young persons with a genetic predisposition, it usually manifests after being exposed to environmental triggers. A subtype of autoimmune diabetes mellitus (ADM) that typically occurs in adulthood is often referred to as latent autoimmune diabetes of adults (LADA). LADA is characterized by a milder process of β-cells destruction and less intensive insulin treatment, which may become necessary even many years after diagnosis. Genetic predisposition of T1D carries an increased risk for other autoimmune diseases, such as autoimmune thyroiditis, the most frequently associated condition, and pernicious anaemia (PA), present in approximately 4% of all individuals with T1D. Here, we describe the case of a 90-year-old woman with vitiligo and a mute medical history who was admitted to our University Hospital in Perugia with hyperglycaemia and severe anaemia due to vitamin B12 (VB12) depletion. A short time after setting the beginning treatment with a basal-bolus insulin regimen, her insulin requirement rapidly declined and treatment with sitagliptin, a dipeptidyl peptidase-4 inhibitor (DPP4), was started. A complete autoimmunity screening panel showed that GAD65 and intrinsic factor autoantibodies were positive.
      PubDate: Fri, 18 Mar 2022 21:05:01 +000
  • A Case of Growth Hormone Use in Dyggve–Melchior–Clausen

    • Abstract: Short stature has many causes including genetic disease, skeletal dysplasias, endocrinopathies, familial short stature, and nutritional deficiencies. Recombinant growth hormone (rGH) therapy may be employed to improve stature based on the underlying etiology and growth velocity. Skeletal dysplasia in Dyggve–Melchior–Clausen (DMC) syndrome tends to be progressive, typically with hip involvement, and ultimately leads to bilateral dislocation of the hip joints. Here, we present a pediatric patient with short stature treated with rGH therapy, complicated by the development of debilitating, bilateral hip pain, and found to have DMC syndrome. Our patient had limited range of motion at several joints including the hips after receiving 6 months of rGH therapy. Given the timing of the patient’s rGH therapy and the progression of her disease, it is difficult to determine if there were any benefits and instead, is concerning for worsening of her skeletal dysplasia with rGH therapy use. Consequently, patients with severe short stature should have a thorough workup for genetic causes like DMC syndrome, before initiating rGH therapy to determine any potential benefits or harms of treatment.
      PubDate: Tue, 15 Mar 2022 11:20:00 +000
  • Euglycemic Diabetic Ketoacidosis after Discontinuing SGLT2 Inhibitor

    • Abstract: Background. Sodium glucose cotransporter-2 (SGLT2) inhibitors have been proven to be very effective in the management of type II diabetes. These medications can cause adverse drug reactions such as genital mycotic infections. Another critical adverse drug reaction is euglycemic diabetic ketoacidosis (EDKA) under the setting of other contributing risk factors for developing diabetic ketoacidosis. Case Presentation. We report a case of a 45-year-old gentleman with type 2 diabetes mellitus on empagliflozin, metformin, and glimepiride who presented with abdominal pain, fatigue, and vomiting. Of note, he started a ketogenic diet three days before his presentation and self-stopped his antidiabetic medications two days before his presentation. The patient was found to have euglycemic diabetic ketoacidosis and was treated as per the protocol. He was discharged on metformin and pioglitazone. Two weeks following discharge, canagliflozin was added. Conclusion. Euglycemic diabetic ketoacidosis could still be precipitated despite discontinuation of SGLT2I under a ketogenic diet. Discussion related to the initiation of a ketogenic diet should occur between the care provider and the patient.
      PubDate: Wed, 02 Mar 2022 10:20:00 +000
  • Overcoming Barriers to Diabetes Technology in Youth with Type 1 Diabetes
           and Public Insurance: Cases and Call to Action

    • Abstract: Advancements in diabetes technology such as continuous glucose monitoring (CGM), insulin pumps, and automated insulin delivery provide opportunities to improve glycemic control for youth with type 1 diabetes (T1D). However, diabetes technology use is lower in youth on public insurance, and this technology use gap is widening in the US. There is a significant need to develop effective interventions and policies to promote equitable care. The dual purpose of this case series is as follows: (1) describe success stories of the CGM Time in Range Program (CGM TIPs), which removed barriers for initiating CGM and provided asynchronous remote glucose monitoring for youth on public insurance, and (2) advocate for improving CGM coverage by public insurance. We describe a series of six youths with T1D and public insurance who obtained and sustained use of CGM with assistance from the program. Three youths had improved engagement with the care team while on CGM and the remote monitoring protocol, and three youths were able to leverage sustained CGM wear to obtain insurance coverage for automated insulin delivery systems. CGM TIPs helped these youths achieve lower hemoglobin A1c and improved time in range (TIR). Despite the successes, expansion of CGM TIPs is limited by stringent barriers for CGM approval and difficult postapproval patient workflows to receive shipments. These cases highlight the potential for combining diabetes technology and asynchronous remote monitoring to support continued use and provide education to improve glycemic control for youth with T1D on public insurance and the need to reduce barriers for obtaining CGM coverage by public insurance.
      PubDate: Tue, 01 Mar 2022 08:05:00 +000
  • An Infant with Asymptomatic Vitamin D Intoxication: A Prolonged and
           Sustainable Recovery

    • Abstract: Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as delayed teething, knock knees, or delayed walking. We present here an experience of treating an infant with asymptomatic VDI that had a prolonged course of recovery and a sustainable level of vitamin D over a follow-up period of 2.5 years. In our patient, vitamin D started to drop steadily after a month of stopping vitamin D supplements but not to a normal level. It reached an acceptable level only after six months. This case emphasizes the importance of educating parents about the empirical use of vitamin D over the counter, assessing the baseline level of serum vitamin D level prior to initiation of treatment and highlights the value of verifying additional dietary sources of vitamin D or oral supplements in patient’s history.
      PubDate: Sun, 27 Feb 2022 12:20:00 +000
  • Retracted: A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a
           Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

    • PubDate: Tue, 22 Feb 2022 03:50:01 +000
  • A Tale of Two Hypersecreting Adrenal Neoplasms in the Heartland of
           COVID-19 Pandemic, Lombardy, Italy

    • Abstract: In this study, we report the management, in Lombardy, Italy, of one patient with Cushing’s syndrome due to adrenal adenoma and another one with pheochromocytoma, whose surgeries were deferred owing to the COVID-19 pandemic.
      PubDate: Fri, 18 Feb 2022 13:35:01 +000
  • Bilateral Leydig Cell Hyperplasia: A Rare Cause of Postmenopausal

    • Abstract: Background. Postmenopausal hirsutism could be due to a myriad of causes, including ovarian and adrenal tumours, ovarian hyperthecosis, exogenous androgens, and Cushing’s syndrome. We report a patient who was found to have a rare cause of postmenopausal hirsutism. Case Presentation. A 64-year-old postmenopausal woman with a history of hypertension, thyrotoxicosis, and poorly controlled diabetes on multiple oral hypoglycaemic agents presented with gradual onset progressive excessive hair growth without any virilizing features. On examination, she did not have Cushingnoid features or clitoromegaly. Her hirsutism was quantified with Ferriman–Gallwey score which was 9. Her biochemical evaluation showed elevated testosterone levels with normal DHEAS, ODST, 17-OHP, and prolactin. Low-dose dexamethasone suppression test did not suppress testosterone more than 40%. Contrast-enhanced CT of the adrenal and pelvis did not show any adrenal or ovarian mass lesions. Transvaginal ultrasound scan showed bilateral prominent ovaries only. Combined adrenal and ovarian venous sampling was carried out to localize the source of excess androgen, but only the left adrenal vein was successfully cannulated which showed suppressed testosterone level compared to periphery. The patient underwent total abdominal hysterectomy and bilateral salphingo oophorectomy, and her testosterone level normalized postoperatively. Her glycaemic control improved. Histology showed evidence of bilateral diffuse ovarian Leydig cell hyperplasia. Conclusion. Evaluation of postmenopausal hirsutism needs careful history and examination followed by biochemical evaluation and imaging. While adrenal and ovarian venous sampling can help to arrive at a diagnosis, it is a technically demanding procedure with low success rates even at centers of excellence. Therefore, in such situations, bilateral oophorectomy may be the best course of action which will give the histological confirmation of the diagnosis. Successful treatment of hyperandrogenism can result in improvement of glycaemic control. Bilateral diffuse Leydig cell hyperplasia is a rare but important cause of postmenopausal hirsutism.
      PubDate: Sat, 12 Feb 2022 07:20:01 +000
  • Aggressive Papillary Thyroid Carcinoma Presenting with Metastasis to the

    • Abstract: Papillary thyroid cancer is the most common type of thyroid cancer. Aggressive forms tend to metastasize to the lungs and bones, but the abdomen is a rare site of metastasis. We present a 46-year-old male patient who presented with a neck mass associated with shortness of breath and hemoptysis. He was found to have a large thyroid mass on imaging. He underwent a total thyroidectomy with bilateral neck dissection, with pathology showing a multifocal tall cell variant of papillary thyroid carcinoma with lymphovascular invasion in both thyroid lobes. Due to recurrent findings of residual thyroid tissue on whole-body scan imaging, the patient underwent radioactive iodine ablation therapy twice, with poor response to therapy, suggested by persistently elevated thyroglobulin levels. However, the residual tissue responded to external beam radiation. After the initial response to radiation, thyroglobulin was noted to have increased again, prompting a PET-CT after administration of recombinant TSH. PET showed a focal area of increased uptake in the head of the pancreas. The patient underwent the Whipple procedure for resection of the metastasis. Pathology showed papillary thyroid carcinoma with strong and diffuse staining for TTF-1 and thyroglobulin. The patient was started on lenvatinib in the postoperative period and is currently tolerating treatment well with evidence of decreasing thyroglobulin levels. Intra-abdominal metastasis from a thyroid malignancy source is quite rare and can be challenging as far as diagnosis and treatment. Surgical resection can be curative and can be followed by radioactive iodine ablation therapy if cancer cells show avidity. Tyrosine kinase inhibitors can be used in refractory disease. New research is being conducted on new agents that can reverse the resistance to radioactive iodine therapy.
      PubDate: Thu, 20 Jan 2022 06:35:01 +000
  • Diagnostic Challenges in Ovarian Hyperthecosis: Clinical Presentation with
           Subdiagnostic Testosterone Levels

    • Abstract: Symptoms of hyperandrogenism and virilization in postmenopausal women warrant workup for ovarian hyperthecosis. In this case series, we discuss two patients who presented with symptoms of hyperandrogenism and metabolic abnormalities including insulin resistance stemming from ovarian hyperthecosis. Imaging revealed normal ovaries in both patients. However, both patients had total serum testosterone levels below the lower diagnostic limit for ovarian hyperthecosis. Due to high clinical suspicion of ovarian hyperthecosis, both patients underwent bilateral oophorectomy without venous sampling for ovarian androgens. The diagnosis of ovarian hyperthecosis was confirmed on histological examination. Both women had improvement in their hyperandrogenic symptoms, testosterone levels, and biochemical features of insulin resistance after surgical intervention. This presentation of ovarian hyperthecosis with subdiagnostic total serum testosterone levels demonstrates the need for continued research into the pathophysiology of the disease, discussion of the diagnostic threshold of total serum testosterone, as well as the inclusion of ovarian hyperthecosis in the differential of postmenopausal women with hyperandrogenism and insulin resistance.
      PubDate: Tue, 18 Jan 2022 11:05:02 +000
  • Adrenal Myelolipoma Masquerading as an Adrenal Malignancy

    • Abstract: An adrenal myelolipoma presenting with suspicious features may pose a diagnostic challenge to surgeons and endocrinologists. In this case report of an adult patient with undiagnosed congenital adrenal hyperplasia presenting with bilateral adrenal masses, we review his radiographic and clinical findings which were highly suspicious for adrenal malignancy. Features of adrenal myelolipoma that may resemble malignant lesions are reviewed. This case report highlights important features of adrenal myelolipoma that the surgeon and endocrinologist should be aware of. The importance of avoiding overtreating adrenal myelolipomas presenting as tumors of uncertain malignant potential is crucial.
      PubDate: Mon, 17 Jan 2022 07:20:00 +000
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Heriot-Watt University
Edinburgh, EH14 4AS, UK
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