Romano Giorgia, Rollo Giovanni, Spagnol Lorna, Mucciolo Mafalda, Adorisio Ottavio, Silveri Massimiliano
Surgical Andrology and Gynecology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Translational Cytogenetics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Front Surg. 2025 Jan 31;12:1524953. doi: 10.3389/fsurg.2025.1524953. eCollection 2025.
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.
我们报告了一例患有严重生殖器畸形且核型为46, XY的4个月大婴儿。基因检测发现NR5A1基因存在变异，这为成功的多阶段手术干预提供了指导。该病例强调了靶向基因检测在指导严重尿道下裂病例管理中的价值。虽然并非所有严重尿道下裂病例都常规进行基因调查，但下一代测序（NGS）技术提高了正确诊断率，减少了诊断延迟，并有助于确定针对性医疗护理和及时治疗的必要性。通常，外科医生往往重视畸形修复而忽视基因诊断，但我们认为精确的基因诊断在预后预测、制定个体化管理计划以及确定治疗方案方面提高了性发育障碍（DSD）管理的准确性。
