کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9102265 1152243 2005 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Insuficiencia suprarrenal por mutación del gen StAR
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوشیمی بالینی
پیش نمایش صفحه اول مقاله
Insuficiencia suprarrenal por mutación del gen StAR
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Endocrinología y Nutrición - Volume 52, Issue 9, November 2005, Pages 506-509
نویسندگان
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