Young Endocrinologist prize session

ea0013oc16 | Young Endocrinologist prize session | SFEBES2007

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) cause 46,XY disorders of sex development with normal adrenal function

Lin Lin , Philibert Pascal , Ferraz-de-Souza Bruno , Kelberman Daniel , Homfray Tessa , Albanese Assunta , Molini Veruska , Sebire Neil , Einaudi Silvia , Jameson Larry , Sultan Charles , Dattani Mehul , Achermann John

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...

1 shares

Endocrine Abstracts

Society for Endocrinology BES

Oral Communications

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) cause 46,XY disorders of sex development with normal adrenal function

BiosciAbstracts