Department of Urology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Asian J Androl. 2023 Nov 1;25(6):731-736. doi: 10.4103/aja202313. Epub 2023 Jun 9.
5α-reductase 2 deficiency prevents testosterone from being converted to dihydrotestosterone, which causes abnormal urogenital sinus development. The aim of this study was to analyze the relationship between genotype-phenotype, surgical selections, and postoperative complications of 5α-reductase 2-deficient patients with hypospadias. We retrospectively evaluated the medical records of patients who were diagnosed with 5α-reductase 2 deficiency after genetic testing in the Department of Endocrinology and underwent initial hypospadias surgery in the Department of Urology in Beijing Children's Hospital, Capital Medical University (Beijing, China), from April 2007 to December 2021. A total of 69 patients were included in this study; the mean age at surgery was 34.1 months, and the average follow-up time was 54.1 months. Sixty children were treated with preoperative hormone stimulation (PHS) to promote penile growth. The average penis length and glans width were increased by 1.46 cm and 0.62 cm, respectively. The most frequent mutations were p.R227Q (39.1%, 54/138), p.Q6* (15.2%, 21/138), p.G203S (12.3%, 17/138), and p.R246Q (11.6%, 16/138). In 64 patients who were followed up, 43 had a one-stage operation and 21 had a staged operation, and there were significant differences in external masculinization score (EMS) ( P = 0.008) and the average number of operation required to cure ( P < 0.001) between one-stage and staged operations. PHS had a positive effect ( P < 0.001) on penile development. The p.R227Q mutation was associated with higher EMS and less severe hypospadias. One-stage surgery can be selected if conditions permit. The growth and development of children are acceptable in the long term, but penis growth remains unsatisfactory. Long-term complications of hypospadias should be considered during puberty.
5α-还原酶 2 缺乏症可阻止睾酮转化为二氢睾酮，从而导致尿生殖窦发育异常。本研究旨在分析 5α-还原酶 2 缺陷型尿道下裂患者的基因型-表型、手术选择和术后并发症之间的关系。我们回顾性评估了 2007 年 4 月至 2021 年 12 月期间，在北京儿童医院内分泌科接受基因检测诊断为 5α-还原酶 2 缺乏症并在该院泌尿科接受初始尿道下裂手术的患者的病历。共有 69 例患者纳入本研究，手术时的平均年龄为 34.1 个月，平均随访时间为 54.1 个月。60 例患儿接受术前激素刺激（PHS）以促进阴茎生长，阴茎长度和龟头宽度分别增加了 1.46cm 和 0.62cm。最常见的突变是 p.R227Q（39.1%，54/138）、p.Q6*（15.2%，21/138）、p.G203S（12.3%，17/138）和 p.R246Q（11.6%，16/138）。在 64 例随访的患者中，43 例接受了一期手术，21 例接受了分期手术，一期和分期手术的外生殖器男性化评分（EMS）（ P = 0.008）和平均治愈所需手术次数（ P < 0.001）存在显著差异。PHS 对阴茎发育有积极影响（ P < 0.001）。p.R227Q 突变与较高的 EMS 和较轻的尿道下裂相关。如果条件允许，可以选择一期手术。儿童的生长发育在长期内是可以接受的，但阴茎的生长仍然不理想。青春期应考虑尿道下裂的长期并发症。
