Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome.

IF 2.4 4区医学 Q2 DEVELOPMENTAL BIOLOGY Sexual Development Pub Date : 2023-01-01 Epub Date: 2023-09-15 DOI:10.1159/000534086

Hao Yang, Xiuqi Ma, Hongjuan Tian, Jinna Yuan, Dehua Wu, Guanping Dong, Qian Liu, Junfen Fu

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Abstract

Introduction: The pathogenic variants in DEAH-box RNA helicase DHX37 are one of the major causes of 46,XY gonadal dysgenesis and testicular regression syndrome (TRS). To date, only 13 different missense variants have been reported. We report two additional cases with different clinical presentations carrying two novel variants in the DHX37 gene.

Case presentation and results: Case 1 (4.4-year-old boy) presented with significant micropenis and cryptorchidism and was diagnosed as TRS. Case 2 (13.5-year-old girl) had a 46,XY karyotype with female external genitalia and was diagnosed as GD. Two novel DHX37 variants affecting the RecA2 domain, p.G478R and p.L627F, were identified in these cases. Both variants identified in the probands were also present in their unaffected mother.

Conclusion: Our findings broaden the variant spectrum of DHX37 in 46,XY differences of sex development (DSD) individuals.

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DHX37的RecA2结构域中的两个新型杂合子变异导致46,XY性腺发育不良和睾丸退化综合征

简介DEAH-box RNA 螺旋酶 DHX37 的致病变体是导致 46,XY 性腺发育不良和睾丸退化综合征（TRS）的主要原因之一。迄今为止，仅有 13 种不同的错义变体被报道过。我们又报告了两例临床表现不同的病例，这两例病例均携带 DHX37 基因的两种新型变异：病例 1（4.4 岁男孩）有明显的小阴茎和隐睾症，被诊断为 TRS。病例 2（13.5 岁女孩）的核型为 46,XY，外生殖器为女性，被诊断为 GD。在这些病例中发现了两个影响 RecA2 结构域的新型 DHX37 变体：p.G478R 和 p.L627F。结论：我们的发现拓宽了GD的变异谱：我们的研究结果拓宽了 DHX37 在 46,XY 性别发育差异（DSD）个体中的变异谱。

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来源期刊

Sexual Development 生物-发育生物学

CiteScore

4.00

自引率

4.30%

发文量

审稿时长

>12 weeks

期刊介绍： Recent discoveries in experimental and clinical research have led to impressive advances in our knowledge of the genetic and environmental mechanisms governing sex determination and differentiation, their evolution as well as the mutations or endocrine and metabolic abnormalities that interfere with normal gonadal development. ‘Sexual Development’ provides a unique forum for this rapidly expanding field. Its broad scope covers all aspects of genetics, molecular biology, embryology, endocrinology, evolution and pathology of sex determination and differentiation in humans and animals. It publishes high-quality original research manuscripts, review articles, short reports, case reports and commentaries. An internationally renowned and multidisciplinary editorial team of three chief editors, ten prominent scientists serving as section editors, and a distinguished panel of editorial board members ensures fast and author-friendly editorial processing and peer reviewing.