{"title":"An unusual case of 17-hydroxylase deficiency presenting with short stature","authors":"Fatma Özgüç Çömlek , Uğur Gümüş","doi":"10.1016/j.arcped.2024.03.007","DOIUrl":null,"url":null,"abstract":"<div><div><span>17α-Hydroxylase and 17,20-lyase are enzymes encoded by the </span><span><span>CYP17A1</span></span><span><span><span> gene and are necessary for the production of cortisol and sex steroids. Females with 17α-hydroxylase deficiency usually present with </span>primary amenorrhea<span><span> and delayed puberty<span> accompanied by hypertension and electrolyte imbalance<span>. 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 </span></span></span>enzyme deficiency. </span></span>Laboratory test<span><span><span><span> results showed low cortisol and </span>dehydroepiandrosterone sulfate<span> (DHEA-S) along with high luteinizing hormone (LH) and follicle-stimulating hormone (FSH). </span></span>Turner syndrome was excluded after </span>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 </span></span><span><em>CYP17A1</em></span> gene.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 6","pages":"Pages 400-402"},"PeriodicalIF":1.3000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives De Pediatrie","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0929693X24000897","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.
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