一个不寻常的 17- 羟化酶缺乏症病例，表现为身材矮小。

IF 1.3 4区医学 Q3 PEDIATRICS

Archives De Pediatrie Pub Date : 2024-08-01 DOI:10.1016/j.arcped.2024.03.007

Fatma Özgüç Çömlek , Uğur Gümüş

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引用次数: 0

摘要

17α-羟化酶和17,20-赖氨酸酶是由CYP17A1基因编码的酶，是产生皮质醇和性类固醇所必需的酶。缺乏 17α- 羟化酶的女性通常表现为原发性闭经和青春期延迟，并伴有高血压和电解质失衡。在此，我们报告了一例 14 岁女性患者的病例，她出现严重的身材矮小和青春期延迟，但没有任何提示 17- 羟化酶缺乏症的主诉。实验室检查结果显示皮质醇和硫酸脱氢表雄酮（DHEA-S）偏低，黄体生成素（LH）和卵泡刺激素（FSH）偏高。基因分析显示患者的核型为 46,XX，排除了特纳综合征，并通过检测患者 CYP17A1 基因中的 c.1319G>A（p.Arg440His）变异/交替，确诊为 17α- 羟化酶缺乏症。

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An unusual case of 17-hydroxylase deficiency presenting with short stature

17α-Hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are necessary for the production of cortisol and sex steroids. Females with 17α-hydroxylase deficiency usually present with primary amenorrhea and delayed puberty accompanied by hypertension and electrolyte imbalance. Here, we report the case of a 14-year-old female patient who presented with severe short stature and delayed puberty without any complaint suggestive of 17-hydroxylase enzyme deficiency. Laboratory test results showed low cortisol and dehydroepiandrosterone sulfate (DHEA-S) along with high luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Turner syndrome was excluded after genetic analysis showed a 46,XX karyotype, and 17α-hydroxylase deficiency was diagnosed by detecting a c.1319G>A (p.Arg440His) variation/alternation in the patient's CYP17A1 gene.

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来源期刊

Archives De Pediatrie 医学-小儿科

CiteScore

2.80

自引率

5.60%

发文量

106

审稿时长

24.1 weeks

期刊介绍： Archives de Pédiatrie publishes in English original Research papers, Review articles, Short communications, Practice guidelines, Editorials and Letters in all fields relevant to pediatrics. Eight issues of Archives de Pédiatrie are released annually, as well as supplementary and special editions to complete these regular issues. All manuscripts submitted to the journal are subjected to peer review by international experts, and must: Be written in excellent English, clear and easy to understand, precise and concise; Bring new, interesting, valid information - and improve clinical care or guide future research; Be solely the work of the author(s) stated; Not have been previously published elsewhere and not be under consideration by another journal; Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed. Under no circumstances does the journal guarantee publication before the editorial board makes its final decision. Archives de Pédiatrie is the official publication of the French Society of Pediatrics.