Case Report and Literature Review: A 46,XX Infant with Atypical Genitalia Diagnosed with Primary Ovarian Insufficiency Caused by HFM1 Gene Variants.

IF 2.6 3区医学 Q3 ENDOCRINOLOGY & METABOLISM

Hormone Research in Paediatrics Pub Date : 2025-02-10 DOI:10.1159/000544052

Zheng Yuan, Ming Cheng, Xi Meng, Bingyan Cao, Chunxiu Gong

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引用次数: 0

Abstract

Introduction: Primary ovarian insufficiency (POI) due to single-gene variant is classified as a 46,XX difference of sexual development. Variants in the Helicase Family Member 1 (HFM1) gene are associated with POI in females and non-obstructive azoospermia in males.

Case presentation: We described a case of POI with unique genital characteristics, including clitoromegaly, fusion of the labia majora, an opening of the urethral meatus at the perineum, and the absence of the vaginal opening. Hormonal analysis revealed hypergonadotropic hypogonadism. Genetic testing identified two variants in the HFM1 gene: c.1978-2A>C and c.2681-3T>A. A comprehensive analysis of published cases with HFM1 gene variations was conducted to summarize the range of variants and phenotypes associated with HFM1 gene mutations.

Conclusion: This study connects HFM1 gene variants to external genital malformations, expanding the spectrum of phenotypes related to HFM1 mutations. Clinicians should consider the possibility of POI in 46,XX female infants with atypical genitalia and perform genetic testing for HFM1 to avoid leaving out the diagnosis.

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病例报告及文献复习：46，XX例非典型生殖器婴儿诊断为原发性卵巢功能不全（POI），由HFM1基因变异引起。

由单基因变异引起的原发性卵巢功能不全（POI）被归类为性发育的46，xx差异。解旋酶家族成员1 （HFM1）基因的变异与女性POI和男性非阻塞性无精子症有关。病例报告：我们描述了一例具有独特生殖器特征的POI，包括阴蒂肿大，大阴唇融合，会阴处尿道道开口，阴道口缺失。激素分析显示促性腺激素亢进性性腺功能减退。基因检测鉴定出HFM1基因的两个变体：C .1978- 2a >和C .2681- 3t >。我们对已发表的HFM1基因变异病例进行了综合分析，总结了与HFM1基因突变相关的变异范围和表型。讨论：本研究将HFM1基因变异与外生殖器畸形联系起来，扩大了与HFM1突变相关的表型谱。临床医生应考虑46 XX例非典型生殖器女婴POI的可能性，并对HFM1进行基因检测，避免遗漏诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hormone Research in Paediatrics ENDOCRINOLOGY & METABOLISM-PEDIATRICS

CiteScore

4.90

自引率

6.20%

发文量

审稿时长

4-8 weeks

期刊介绍： The mission of ''Hormone Research in Paediatrics'' is to improve the care of children with endocrine disorders by promoting basic and clinical knowledge. The journal facilitates the dissemination of information through original papers, mini reviews, clinical guidelines and papers on novel insights from clinical practice. Periodic editorials from outstanding paediatric endocrinologists address the main published novelties by critically reviewing the major strengths and weaknesses of the studies.