脂质先天性肾上腺增生伴一种新的StAR基因突变。

IF 2.7 Q3 ENDOCRINOLOGY & METABOLISM

Clinical Medicine Insights-Endocrinology and Diabetes Pub Date : 2023-01-01 DOI:10.1177/11795514231167059

Ayman A Bakkar, Abdulaziz Alsaedi, Naglaa M Kamal, Enad Althobaiti, Lujain A Aboulkhair, Abdullah M Almalki, Shaima A Alsalmi, Qaydah Alharthi, Sara A Abosabie, Salma As Abosabie

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引用次数: 0

摘要

脂质先天性肾上腺增生(LCAH)以肾上腺和性腺甾体生成障碍为特征(OMIM:201710)。它是由类固醇急性调节蛋白(StAR)突变引起的。我们报告了一例典型的LCAH病例，该病例发生在一名新生儿(46,XY)，其表型为女性生殖器，在StAR基因中出现了一种新的纯合变异突变C .745- 1g >C . p.，表现为显著的盐损失。

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Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

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Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene.

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来源期刊

Clinical Medicine Insights-Endocrinology and Diabetes ENDOCRINOLOGY & METABOLISM-

CiteScore

4.30

自引率

0.00%

发文量

审稿时长

8 weeks