典型先天性肾上腺增生症伴单侧功能性肾上腺皮质腺瘤:病例报告。

IF 2 4区 医学 Q3 ENDOCRINOLOGY & METABOLISM
Gynecological Endocrinology Pub Date : 2024-12-01 Epub Date: 2024-07-22 DOI:10.1080/09513590.2024.2373741
Qin Yan, Huancheng Su, Xuan Jing, Sufen Li, Xujiao Ji, Zhiping Zhang, Yanni Wang, Xia Huang, Tingting Xue, Xueqing Wu, Xiangrong Cui
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引用次数: 0

摘要

先天性肾上腺增生症(CAH)是一组与肾上腺类固醇生物合成有关的常染色体隐性遗传疾病,主要由编码 21-羟化酶的 CYP21A2 基因突变引起。肾上腺肿瘤在 CAH 中很常见,但功能性肾上腺肿瘤却很少见。在此,我们报告了一名患有男性化外生殖器和原发性闭经并伴有右侧肾上腺肿瘤的 17 岁女性。她的17-OHP水平正常,皮质醇和雄激素水平明显升高,肿瘤病理显示为肾上腺皮质腺瘤。CYP21A2基因检测显示,第4外显子中c.518T > A,第2内含子中c.29313C > G。应考虑未经治疗的典型CAH伴21-OH缺乏症导致功能性肾上腺皮质腺瘤的可能性。当临床诊断高度考虑CAH,且不能排除功能性肾上腺肿瘤分泌功能对17-OHP的影响时,应进行基因突变分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to adrenal steroid biosynthesis, and mainly caused by mutations in the CYP21A2 gene encoding 21-hydroxylase. Adrenal tumors are common in CAH, but functional adrenal tumors are rare. Here, we report a 17-year-old female with virilized external genitalia and primary amenorrhea, accompanied by a right adrenal tumor. Her 17-OHP level was normal, cortisol and androgen levels were significantly elevated, and the tumor pathology showed adrenal cortical adenoma. Gene testing for CYP21A2 showed c.518T > A in exon 4 and c.29313C > G in intron 2. The possibility of untreated classic CAH with 21-OH deficiency causing functional adrenal cortical adenoma should be considered. When clinical diagnosis highly considers CAH and cannot rule out the influence of functional adrenal tumors' secretion function on 17-OHP, gene mutation analysis should be performed.

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来源期刊
Gynecological Endocrinology
Gynecological Endocrinology 医学-妇产科学
CiteScore
4.40
自引率
5.00%
发文量
137
审稿时长
3-6 weeks
期刊介绍: Gynecological Endocrinology , the official journal of the International Society of Gynecological Endocrinology, covers all the experimental, clinical and therapeutic aspects of this ever more important discipline. It includes, amongst others, papers relating to the control and function of the different endocrine glands in females, the effects of reproductive events on the endocrine system, and the consequences of endocrine disorders on reproduction
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