Endocrine Abstracts

This study aimed to identify variables involved in gender identity and sexual orientation, as well as to evaluate the professional and psychosocial aspects and quality of life in adulthood of a large cohort of patients with 46,XY and 46,XX DSD followed by a multidisciplinary team in a tertiary public hospital in Brazil. The study was mainly retrospective and comprised 151 DSD patients; 55 patients had 46,XX and 96 had 46,XY karyotypes. Etiological diagnosis of DSD was establis...

Berenice B Mendonca, University of Sao Paulo, Brazil AbstractBerenice B Mendonca received her M.D in 1973 from Faculdade de Medicina do Triangulo Mineiro, Brazil. In 1984, Prof Mendonca completed her research fellowship in Endocrinology at the University of Sao Paulo School of Medicine, where she developed the whole of her scientific achievements.During the course of her career, Prof Mendonca ha...

Abstract: Congenital hypogonadotropic hypogonadism (CHH) is characterized by isolated GnRH deficiency in the absence of central anatomical causes. Classically considered to be a permanent disorder, CHH reversal has been reported in up to 15% of cases. However, reversal may not always be life-long, as hypogonadism relapse can occur in a subset of patients. Criteria for reversal normalization of circulating sex steroids, and spontaneous fertility. We report a 26-yrs-old man, who...

Introduction: Effects of prior exposure to testosterone (T) during puberty on the performance of transgender women (TW) in estrogen therapy undergoing physical effort are not known, mainly about cardiopulmonary capacity (CPC). Objectives: To evaluate CPC and muscle strength in TW undergoing long-term gender-affirming hormone therapy (GAHT). Methods: A cross-sectional study was carried out with 15 TW (34.2±5.2 yo), 13 cisgender men (CM) and 14 cisgender women (CW). TW were i...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...

Background: Congenital adrenal hyperplasia (CAH) is a rare condition that is associated with life long risk of adrenal crisis. Management of CAH demands a fine balance between excess glucocorticoid leading to adverse effects and too little glucocorticoid risking adrenal crises. Frequent occurrence of sick day episodes warrants dose adjustment and education regarding adrenal crisis. In a condition such as CAH it is difficult to collect sufficient data from small cohorts at a si...

Background: Adrenal insufficiency (AI) results from deficient production/action of glucocorticoids (GCs), with or without deficiency of mineralocorticoids (MC) and adrenal androgens. GC treatment is essential but some patient needs MC therapy to allow sodium(Na+) retention, potassium(K+) excretion and to maintain normal plasma volume and blood pressure. Much attention has focused on optimization of GC replacement but no consensus exists for optimization o...

Introduction: There is no unified approach in clinical practice regarding the medical management of congenital adrenal hyperplasia (CAH), despite existent international guidance. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of patients with CAH.Methods: We collected data recorded by 33 centres from 16 countries in the I-CAH Registry. We analysed patient visits between 1982 and 2018,...