Endocrine Abstracts

Genitalia appear larger and swollen in all neonates due to the circulating maternal hormones and this subsides spontaneously over few weeks or months. Additionally, general growth of the rest of the body outpaces any growth of the genitalia during childhood, resulting in apparent reduction in the size of the genitalia comparatively. There are high levels of circulating androgens in children with CAH until the commencement of medical replacement therapy (MRT). It is universally...

Background: Persistent Müllerian Duct syndrome (PMDS) is characterised by the presence of Müllerian structures in a 46XY male. PMDS can result from either a defect in Anti-Müllerian hormone (AMH) production or in the AMH receptor. AMH causes the Müllerian ducts to atrophy, enabling the testes to move transabdominally to the deep inguinal rings and into the scrotum. In the absence of AMH action, PMDS can cause problems with testicular descent. We present a f...

Based on the traditional belief that the lower vagina does not form owing to excess androgens in utero, extensive dissections are undertaken to bring the vagina down to the skin level in 46XX CAH individuals. However, long held knowledge about the embryological origins of the lower vagina and the key role of androgens has been questioned by genetic and molecular studies [Cai Y. 2009. https://doi.org/10.1387/ijdb.082846yc ]. Our aim was to assess the level of the vaginal introi...

Background: Klinefelter syndrome (KS) is the commonest sex chromosomal disorder. Characteristic features include male phenotype with hypogonadism and progressive testicular failure, gynaecomastia and learning difficulties. The association between mediastinal germ cell tumours (GCT-M) and KS is well established, with KS occurring in 20% of GCT-M patients and the reported incidence of GCT-M in KS being 1.5 per 1000 (Nichols, 1991). Genital anomalies are also known to be rarely o...

Introduction: In response to the proposed move to decommission genitoplasty surgery for DSD, we investigated parental views on surgery for girls with virilising 46XX Congenital Adrenal Hyperplasia (CAH).Materials and Methods: In this prospective study, after ethical approval, parents of surgically treated CAH girls completed an electronic questionnaire.Results: 50 parents were cont...

Introduction: Timing of DSD surgery is debated. This study aimed to investigate outcomes of genitoplasty in CAH and assess patient’s opinion on surgery.Materials and methods: In this ethically approved prospective study, surgically treated CAH girls ≥16 years completed an electronic questionnaire.Results27 patients were contacted 13 completed questionnaires, 10 declined, 4 did not reply. Current median age 27 ...