A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure
Presented by:
Endocrine Journal / Toshihiro Tajima, Fumie Fujiwara and Kenji Fujieda
Summary points:
In this case report, the authors describe their encounter with a Japanese female 46, XY disorders of sex development (SDS) patient without adrenal failure and review identification of a novel mutation (V41G) of NR5A1. Functional analysis revealed that this mutant protein could not activate CYP19 promoter, indicating loss of function.
A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure
