Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.

IF 2.4 4区医学 Q2 DEVELOPMENTAL BIOLOGY Sexual Development Pub Date : 2023-01-01 DOI:10.1159/000527754

Gorjana Robevska, Chloe Hanna, Jocelyn van den Bergen, John Welch, Jennifer Couper, Shannon Harris, Kriti Joshi, Justin Brown, Matthew Sabin, Andrew Sinclair, Michele O'Connell, Katie Ayers

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Abstract

Introduction: Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by genetic variants that reduce the activity of the enzyme that converts testosterone into dihydrotestosterone. The clinical spectrum of 5α-R2D is known to overlap with other 46,XY differences of sex development (DSD) such as androgen insensitivity or gonadal dysgenesis. However, the clinical trajectories of the aetiologies can differ, with 5α-R2D presenting its own challenges.

Methods: In this study, we have collated clinical information for five individuals with variants in SRD5A2 identified using research genetic testing in an Australian paediatric setting.

Results: We describe how a genetic finding resolved or confirmed a diagnosis for these individuals and how it guided clinical management and family counselling.

Conclusion: This work highlights the importance of early genetic testing in children born with 46,XY DSD where it complements traditional first-line testing.

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来自澳大利亚诊所的DSD患者光谱中SRD5A2的遗传变异强调了基因检测和典型一线调查的重要性。

简介:类固醇5- α还原酶缺乏症(5α-R2D)是一种罕见的疾病，由基因变异引起，降低了将睾酮转化为二氢睾酮的酶的活性。已知5α-R2D的临床谱与其他46,xy性发育差异(DSD)重叠，如雄激素不敏感或性腺发育障碍。然而，病因的临床轨迹可能不同，5α-R2D表现出自己的挑战。方法:在这项研究中，我们整理了在澳大利亚儿科环境中通过研究基因检测发现的5例SRD5A2变异个体的临床信息。结果:我们描述了基因发现如何解决或确认这些个体的诊断，以及它如何指导临床管理和家庭咨询。结论:这项工作强调了早期基因检测对46,xy DSD患儿的重要性，它补充了传统的一线检测。

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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.