ea0041gp188 | Reproduction & Endocrine Disruption | ECE2016
Donadille Bruno
, Cabrol Sylvie
, Houang Muriel
, Lebouc Yves
, Morel Yves
, Netchine Irene
, Christin-Maitre Sophie
Human 3β-hydroxysteroid dehydrogenase deficiency is a rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations, leading to steroidogenesis impairment in both adrenals and gonads. The transition period is important for a successful adult fertility, but information about fertility is lacking in this rare disease.The patient presented with salt wasting at birth in Trousseau Hospital. Consanguinity was present, since the parents ...