Endocrine Abstracts

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...

The NR0B1 (Nuclear Receptor Subfamily 0, group b, member 1) gene, originally called DAX1, encodes an atypical member of the nuclear receptor family. It is proposed to co-regulate other nuclear receptors, repress transcription of downstream gene targets such as steroidogenic factor 1 and play a role in testis development and spermatogenesis. The gene has two exons of 1,168 and 345bp, separated by a 3,385bp intron. It is expressed in the hypothalamic-pitutary-adrenal/gonadal axi...