Endocrine Abstracts

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The main aim of this study is to characterize a cohort of 46,XX DSD patients followed at the Garrahan Pediatric Hospital, Buenos Aires, Argentina. Medical records of all patients followed at the Endocrinology Department because of DSD between January 1, 2000 and January 1, 2011 in whom laboratory tests were requested were reviewed. We ...

The nuclear receptor SF1/NR5A1 regulates transcription of genes involved in reproduction, steroidogenesis and male sexual differentiation. Mutations in humans cause gonadal dysgenesis with or without adrenal failure in both 46,XY and 46,XX individuals. In a cohort of patients with familial 46,XY DSD, we identified 6 heterozygous NR5A1 mutations in 19 subjects from 5 unrelated families (F1-F5). Moreover, a de novo heterozygous mutation in one patient with 46,XY DSD and no affec...