先天性类脂性肾上腺皮质增生症是 46 XY 性分化障碍的一个鲜为人知的病因。

IF 0.9 Q4 ENDOCRINOLOGY & METABOLISM Case Reports in Endocrinology Pub Date : 2024-08-31 eCollection Date: 2024-01-01 DOI:10.1155/2024/5399577
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G de Los Santos Aguilar, Luis David Sol Oliva
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引用次数: 0

摘要

病例本病例中,一名妇女在新生儿期出现失盐性肾上腺功能不全,并伴有 46 XY 性腺发育不良。遗传学研究发现该患者存在类固醇生成急性调节蛋白(StAR)突变:结论:StAR 基因突变导致蛋白功能缺失,临床表现为先天性肾上腺皮质增生症,对于 46 XY 核型患者,伴有以雄激素缺乏为特征的性腺发育不良,但抗穆勒氏管激素没有改变。
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Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.

Case: We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.

Conclusion: Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.

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来源期刊
Case Reports in Endocrinology
Case Reports in Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.10
自引率
0.00%
发文量
45
审稿时长
13 weeks
期刊最新文献
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