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脂质先天性肾上腺皮质增生症的表型变异

Phenotypic variations in lipoid congenital adrenal hyperplasia.

作者信息

Bhangoo Amrit, Anhalt Henry, Ten Svetlana, King Steven R

机构信息

Pediatric Endocrinology Division of Infants and Children's Hospital of Brooklyn at Maimonides, Brooklyn, NY, USA.

出版信息

Pediatr Endocrinol Rev. 2006 Mar;3(3):258-71.

PMID:16639391
Abstract

Congenital lipoid adrenal hyperplasia (lipoid CAH) is an autosomal recessive disorder characterized by severe adrenal insufficiency and male sex reversal. Lipoid CAH is caused by mutations in two proteins that are essential for all steroid biosynthesis, the steroidogenic acute regulatory (StAR) protein and cytochrome P450scc. In this review, we discuss the clinical presentation and mechanisms behind the pathology of this fatal disorder.

摘要

先天性类脂性肾上腺增生症（类脂性先天性肾上腺皮质增生症）是一种常染色体隐性疾病，其特征为严重肾上腺功能不全和男性性反转。类脂性先天性肾上腺皮质增生症由两种对所有类固醇生物合成至关重要的蛋白质发生突变引起，即类固醇生成急性调节蛋白（StAR）和细胞色素P450scc。在本综述中，我们讨论了这种致命疾病的临床表现及其病理背后的机制。

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Phenotypic variations in lipoid congenital adrenal hyperplasia.脂质先天性肾上腺皮质增生症的表型变异
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2
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[Congenital lipoid adrenal hyperplasia].
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New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.关于A218V变体对与46，XY性发育障碍相关的类固醇生成急性调节蛋白（STAR）影响的新分子见解。
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