Insuficiencia suprarrenal por mutación del gen StAR

Male pseudohermaphroditism is a heterogeneous condition. Diagnosis is complex because of its phenotypic variability and the large number of potential causes. A mutation in the steroidogenic acute regulatory protein (StAR) gene causes congenital lipoid adrenal hyperplasia (CLAH), characterized by the absence of adrenal and gonadal steroidogenesis, resulting in severe adrenal insufficiency and male pseudohermaphroditism. We report the case of a 27-year-old, 46,XY phenotypic woman, who was referred because of an undiagnosed adrenal disease. Basal adrenal and gonadal plasma steroids were undetectable and there was marked elevation of gonadotrophins. Study of the StAR gene revealed a heterozygous mutation in exon 3 (CTn327-328) and a homozygous mutation in exon 7 (L275P),confirming the diagnosis of CLAH.