Searchable abstracts of presentations at key conferences in endocrinology

ea0008p15 | Clinical case reports | SFE2004

Adrenal hypoplasia congenita and hypogonadotropic hypogonadism due to a novel splice site mutation in NR0B1

Saleh F , #S-H|#Kim|# , Walker AP , Bouloux PM

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...