Searchable abstracts of presentations at key conferences in endocrinology

ea0011p129 | Clinical case reports | ECE2006

A case of late onset congenital adrenal hyperplasia in a female epileptic patient: implications for clinical practice

Davies E , Kisalu J , Bouloux PM , Thomas M

We report the case of a 53 year old woman with a history of refractory focal epilepsy with complex partial and secondary generalised seizures. She has been on multiple anti-epileptic drugs since childhood. At 42 years of age she was referred to the Endocrinology Department complaining of capital hair loss and hirsutism. At this time her epilepsy was controlled on phenytoin and carbamazepine.A diagnosis of congenital adrenal hyperplasia (CAH) was made, wi...

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...