Woodhouse-Sakati综合征的DCAF17突变:一种新型纯合变异的病例报告。

IF 0.5 Q4 PEDIATRICS
Case Reports in Pediatrics Pub Date : 2025-09-29 eCollection Date: 2025-01-01 DOI:10.1155/crpe/9913412
Asal Khalili Dehkordi, Rahim Vakili
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引用次数: 0

摘要

背景:Woodhouse-Sakati综合征(WSS)是一种罕见的常染色体隐性遗传病,以一系列症状为特征,包括脱发、性腺功能减退、糖尿病、智力低下和锥体外系综合征。在这里,我们提出一个女孩WSS的病例研究,重点是临床特征,遗传分析和治疗。病例描述:患者是一名16岁的女性,表现为原发性闭经和第二性征发育不全。她的父母是一级近亲。临床评估,实验室检查,全外显子组测序和核型诊断WSS。患者表现出明显的额颞叶脱发、性腺功能减退和智力下降。遗传分析显示,已知的WSS致病基因DCAF17基因发生纯合突变(c.1001 + 1G > a)。除了激素治疗以诱导青春期外,患者还被转介到神经病学进行进一步评估。结论:本病例强调了在脱发、性腺功能减退和近亲血统患者中考虑WSS的重要性。基因检测在诊断中起着至关重要的作用,而激素治疗可能减轻一些症状。WSS是一种复杂的综合征,临床表现多样,需要多学科治疗。早期识别和有效管理对于改善受影响个人的生活质量至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
DCAF17 Mutation in Woodhouse-Sakati Syndrome: A Case Report on a Novel Homozygous Variant.

Background: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by a constellation of symptoms, including alopecia, hypogonadism, diabetes, mental retardation, and extrapyramidal syndrome. Here, we present a case study of a girl with WSS, focusing on clinical features, genetic analysis, and treatment. Case Description: The patient is a 16-year-old female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics. She has first-degree consanguineous parents. Clinical evaluations, laboratory tests, whole-exome sequencing, and karyotyping were performed to diagnose WSS. The patient exhibited notable frontotemporal alopecia, hypogonadism, and intellectual decline. Genetic analysis revealed a homozygous mutation (c.1001 + 1G > A) in the DCAF17 gene, a known causative gene of WSS. In addition to hormone therapy to induce puberty, the patient was referred to neurology for further evaluation. Conclusions: This case highlights the importance of considering WSS in patients with alopecia, hypogonadism, and consanguineous backgrounds. Genetic testing plays a crucial role in diagnosis, while hormone therapy may alleviate some symptoms. WSS is a complex syndrome with varied clinical manifestations, necessitating multidisciplinary treatment. Early recognition and effective management are essential for improving the quality of life of affected individuals.

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来源期刊
自引率
11.10%
发文量
48
审稿时长
13 weeks
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