Endocrine Abstracts

Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterised by hypoparathyroidism, adrenocortical failure, and mucocutaneous candidiasis. The gene causing APS1 is the autoimmune regulator (AIRE-1) gene, which maps to 21q22.3 and consists of 14 exons. The AIRE-1 protein, comprising of 545 amino acids, contains two PHD zinc-finger motifs, a proline rich region and four LXXLL motifs, consistent with its role as a transcription factor. Over 25 diff...

Autoimmune thyroid diseases (AITD), such as Graves' disease (GD) and autoimmune thyroiditis (AT), cluster within families and within individuals and exhibit a strong female preponderance. The type 1 diabetes Warren Repository was established between 1989 and 1996 and contains 505 families of British white Caucasian origin. Each family consists of both parents and at least two siblings with type 1 diabetes. We have examined the clinical data collected to establish the frequency...

Background: ARMC5 (armadillo repeat containing 5) has been identified as the gene responsible for PBMAH (Primary Bilateral Macronodular Adrenal Hyperplasia). ARMC5 inactivating mutations are reported in 20 to 25% of PBMAH patients. ARMC5, is considered as a tumor suppressor gene controlling apoptosis and regulating steroidogenesis. The mechanisms of action of ARMC5 are unknown. The structure of the ARMC5 protein contains ARM repeats and a BT...

Research indicates the relationship between beast and thyroid gland. Breast tissue contains the highest concentrations of iodine, so shortfalls in this essential mineral needs have a highly negative impact on breast tissue (R. Thompson, 2015).Purpose: The study was undertaken to estimate the frequency of the breasts diseases in adolescent girls with endemic goiter.Patients and methods: The study included 2371 girls (aged 10–18...

South Korea has a universal health coverage system that the National Health Insurance covers approximately 98% of the overall Korean population. The claims data of HIRA contains 46 million patients per year that account for 90% of the total population in Korea and include claims from almost 80,000 healthcare service providers across South Korea as of 2011. National Health Insurance (NHI) reimbursement coverage continues to expand and there will be full reimbursement of cancer,...

Aim: To assess the data of the registry concerning women with acromegaly.Materials and methods: Russian hypothalamic and pituitary tumors registry database, containing the information on 3968 acromegalic patients.Results: From all patients with acromegaly registered in the database, 2878 patients (72.5%) are women. We assessed the following data on gonadal status and reproductive function in this group: 512 patients have irregular ...

Introduction: Ganglioneuromas (GN) are rare benign tumors arising from the neural crest tissue and are most commonly located in the posterior mediastinum and retroperitoneum; they are rarely found in the adrenal gland. We report a case of a female patient with adrenal ganglioneuroma.Observation: A 51-year-old female patient with no previous comorbidities was admitted to our hospital. She had no significant past medical or surgical history. She had sympto...

IntroductionMEN 2A is an autosomal dominant disease, a familial syndrome with a mutation at RET proto-oncogene. %25 of medullary thyroid carcinoma (MTC) is a part of MEN 2A. Herein, we presented a patient with MEN 2A who was found to be heterozygos for RET mutation cause of the association of MTC and papillary thyroid carcinoma (PTC) is very rare.Case63 year old patient was admitted to the endocrinology clini...

Background: The increase use of abdominal imaging have given rise in incidental discovery of adrenal masses. We report a case of a localized Castleman’s Disease(CD), mimicking an adrenal mass.Case report: A 29-year-old woman was found to have a 6 cm, well-circumscribed and hypoechoic, right adrenal incidentaloma during an abdominopelvic ultrasonography. The CT scan confirmed a suprarenal mass with heterogenous contrast enhancement. Adrenal gland cou...

Background: An endocrine disruptor is an exogenous chemical or mixture of chemicals that interfere with any aspect of hormone action. It can interfere with the body’s endocrine system and produce adverse cardiovascular, neurological, developmental, reproductive, and metabolic effects in humans. This study aims to evaluate the knowledge, attitude, and practices (KAP) of the medical students regarding the exposure, usage, and long-term harmful effects of Endocrine Disrupt...