Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
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چکیده
منابع مشابه
Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
CONTEXT Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH). OBJECTIVE StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency. Only a few mutations have...
متن کاملA Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
Congenial lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia. It is characterized by impaired synthesis of all the adrenal steroids including mineralocorticoids, glucocorticoids, and sex steroids (1). Affected individuals are phenotypically female and have severe salt wasting. This disease is especially frequent in the Japanese population (1, 2). The cau...
متن کاملA case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia
RATIONALE Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS A case was reported that an 11-month-old Chine...
متن کاملCongenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein.
Lipoid CAH was first described in detail as an inherited endocrine disorder by Prader and colleagues (Prader & Gurtner 1955, Prader & Siebenmann 1957, Prader & Anders 1962), although at least four autopsy cases appeared earlier in the pathology literature (Tilp 1913, Brutschy 1920, Zahn 1948, Sandison 1955). Prader’s group described male pseudohermaphroditism, an apparent lack of adrenal steroi...
متن کاملAnalysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.
Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX patients have experienced spontaneous pubertal changes including breast develop...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2011
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0020178