Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory?

IF 1.6 4区医学 Q2 SURGERY Frontiers in Surgery Pub Date : 2025-01-31 eCollection Date: 2025-01-01 DOI:10.3389/fsurg.2025.1524953

Giorgia Romano, Giovanni Rollo, Lorna Spagnol, Mafalda Mucciolo, Ottavio Adorisio, Massimiliano Silveri

引用次数: 0

Abstract

We report a case of a 4-month-old infant with severe genital malformation and a 46, XY karyotype. Genetic testing revealed a variant in the NR5A1 gene, guiding a successful multistage surgical intervention. This case underscores the value of targeted genetic testing in guiding the management of severe hypospadias cases. While genetic investigation isn't routine for all severe hypospadias cases, Next Generation Sequencing (NGS) technologies have influenced the rate of correct diagnoses, reduced diagnostic delay, and helped to determine the need for focused medical care and timely treatment. Too commonly, surgeons tend to attach importance to malformation repair and disregard the genetic diagnoses, but we believe that precise genetic diagnosis improves the accuracy of DSD management in terms of prognostic predictions, the development of an individualized management plan and the determination of treatment options.

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病例报告- 46例XY核型患者的严重尿道下裂：三级基因检测是否总是强制性的？

我们报告一例4个月大的婴儿严重生殖器畸形和46，XY核型。基因检测揭示了NR5A1基因的变异，指导了成功的多阶段手术干预。本病例强调了有针对性的基因检测在指导严重尿道下裂病例管理中的价值。虽然基因调查并不是所有严重尿道下裂病例的常规检查，但下一代测序（NGS）技术已经影响了正确诊断率，减少了诊断延误，并有助于确定是否需要集中医疗护理和及时治疗。通常，外科医生倾向于重视畸形修复而忽视基因诊断，但我们相信精确的基因诊断可以提高DSD治疗的准确性，包括预后预测、个性化治疗计划的制定和治疗方案的确定。

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

Frontiers in Surgery Medicine-Surgery

CiteScore

1.90

自引率

11.10%

发文量

1872

审稿时长

12 weeks

期刊介绍： Evidence of surgical interventions go back to prehistoric times. Since then, the field of surgery has developed into a complex array of specialties and procedures, particularly with the advent of microsurgery, lasers and minimally invasive techniques. The advanced skills now required from surgeons has led to ever increasing specialization, though these still share important fundamental principles. Frontiers in Surgery is the umbrella journal representing the publication interests of all surgical specialties. It is divided into several “Specialty Sections” listed below. All these sections have their own Specialty Chief Editor, Editorial Board and homepage, but all articles carry the citation Frontiers in Surgery. Frontiers in Surgery calls upon medical professionals and scientists from all surgical specialties to publish their experimental and clinical studies in this journal. By assembling all surgical specialties, which nonetheless retain their independence, under the common umbrella of Frontiers in Surgery, a powerful publication venue is created. Since there is often overlap and common ground between the different surgical specialties, assembly of all surgical disciplines into a single journal will foster a collaborative dialogue amongst the surgical community. This means that publications, which are also of interest to other surgical specialties, will reach a wider audience and have greater impact. The aim of this multidisciplinary journal is to create a discussion and knowledge platform of advances and research findings in surgical practice today to continuously improve clinical management of patients and foster innovation in this field.