Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
T. Hasegawa,M. Fukami,5 Authors,T. Ogata
2004 · DOI: 10.1210/JC.2004-0935
Journal of Clinical Endocrinology and Metabolism · 102 Citations
TLDR
The results suggest that SF-1 haploinsufficiency can selectively impair testicular development and permit the biosynthesis of AMH and testosterone in dysgenetic testes and the production of gonadotropic hormone in pituitary gonadotropes.