Endocrine Abstracts

Isolated hypogonadotrophic hypogonadism (IHH) is defective secretion of luteinizing hormone (LH) and follicular stimulating hormone (FSH) resulting in incomplete or absent pubertal development and infertility. Several genetic defects underlying IHH have been identified, including in the gonadotrophin releasing hormone receptor (GnRH-R) gene. Here we report a case of two sisters, with clinical phenotypes of IHH, presenting with poor breast development, primary amenorrhoea and a...

17-beta hydroxysteroid dehydrogenase 3 (17βHSD3) converts androstendione to testosterone in the male testis. Testosterone is necessary for the development of the external male genitalia, a failure of which can result in sexual ambiguity.We present a 22-year-old individual presenting with vaginal bleeding on attempted intercourse. At puberty (13–14 years old), being brought up as a girl, she began to virilise alongside minimal breast development...