Prevalence of disorders of sex development in patients with hypospadias and cryptorchidism

IF 2 3区医学 Q2 PEDIATRICS

Journal of Pediatric Urology Pub Date : 2025-02-01 DOI:10.1016/j.jpurol.2024.09.017

Callum Lavoie , Brian Chun , Melanie Au , Christine Do , S. Scott Sparks , Andy Y. Chang

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引用次数: 0

Abstract

Background

Hypospadias and undescended testicles (UDT) are common congenital conditions, affecting approximately 1 in 125 and 1 in 33 boys, respectively. There has been limited contemporary data regarding the prevalence of Disorders of Sex Development (DSD) in patients with a history of both hypospadias and UDT.

Objective

Our objective is to determine the prevalence of DSD among patients presenting with hypospadias and UDT.

Design, setting, and participants

Electronic medical records were reviewed, and a retrospective chart review was conducted on 177 patients that were evaluated at our institution from 2000 to 2021 with a diagnosis of hypospadias and UDT. The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded.

Outcome measurements and statistical analysis

The degree of hypospadias, presence of and palpability of UDT, and prevalence and type of DSD were recorded. Chi-squared and Fisher's exact tests were conducted for descriptive statistical analyses as appropriate. Logistic regression analyses were conducted, with adjusted models including demographic and relevant clinical data.

Results

177 patients were identified with both hypospadias and UDT, with 17/111 (15.3 %) diagnosed with DSD. The most common etiology of DSD was mixed gonadal dysgenesis (35.3 %; n = 6). Proximal hypospadias made up only 59.6 % of those without DSD vs. 100 % of those with confirmed DSD (p = 0.0044). A significantly smaller proportion of DSD patients had bilaterally palpable gonads compared to those without DSD (29.4 % vs. 79.8 %, p < 0.0001). Compared to those with palpable testes, patients with one non-palpable testicle had up to 26.67 times greater odds of DSD.

Conclusions

To date, we present the largest cohort of patients that have undergone DSD work up for the combined presentation of hypospadias and UDT. Our findings highlight an increase in DSD diagnosis in proximal hypospadias patients with non-palpable UDTs, which offers further evidence and support for pursuing DSD diagnostic work-up in all proximal hypospadias patients with UDTs.

Download: Download high-res image (283KB)
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Summary figure. Flowchart of hypospadias location and testes palpability with DSD prevalence.

查看原文本刊更多论文

尿道下裂和隐睾患者性发育障碍的发病率。

背景：尿道下裂和睾丸下降不全（UDT）是常见的先天性疾病，分别约占男童发病率的1/125和1/33。关于同时患有尿道下裂和睾丸发育不全的患者中性发育障碍（DSD）患病率的当代数据十分有限：我们的目的是确定尿道下裂和尿道外裂患者中DSD的患病率：我们查阅了电子病历，并对 2000 年至 2021 年期间在我院接受评估、诊断为尿道下裂和尿道外翻的 177 名患者进行了回顾性病历审查。结果测量和统计分析：结果测量和统计分析：记录尿道下裂的程度、是否存在尿道前列腺增生症、尿道前列腺增生症的可触及性、DSD的患病率和类型。描述性统计分析采用卡方检验（Chi-squared）和费雪精确检验（Fisher's exact）。进行逻辑回归分析，调整模型包括人口统计学和相关临床数据：结果：177 名患者同时患有尿道下裂和尿道外翻，其中 17/111 人（15.3%）被诊断为 DSD。DSD最常见的病因是混合性性腺发育不良（35.3%；n = 6）。近端尿道下裂在无DSD患者中仅占59.6%，而在确诊DSD患者中则占100%（P = 0.0044）。与无DSD患者相比，DSD患者中可触及双侧性腺的比例明显较低（29.4% vs. 79.8%，p 结论：DSD患者中可触及双侧性腺的比例明显较低，p = 0.0044：迄今为止，我们发现了因尿道下裂和尿道外口发育不全而接受 DSD 检查的最大规模患者群体。我们的研究结果表明，尿道下裂近端患者中无法扪及 UDT 的 DSD 诊断率有所上升，这为所有尿道下裂近端患者进行 DSD 诊断工作提供了进一步的证据和支持。

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

Journal of Pediatric Urology PEDIATRICS-UROLOGY & NEPHROLOGY

CiteScore

3.70

自引率

15.00%

发文量

330

审稿时长

4-8 weeks

期刊介绍： The Journal of Pediatric Urology publishes submitted research and clinical articles relating to Pediatric Urology which have been accepted after adequate peer review. It publishes regular articles that have been submitted after invitation, that cover the curriculum of Pediatric Urology, and enable trainee surgeons to attain theoretical competence of the sub-specialty. It publishes regular reviews of pediatric urological articles appearing in other journals. It publishes invited review articles by recognised experts on modern or controversial aspects of the sub-specialty. It enables any affiliated society to advertise society events or information in the journal without charge and will publish abstracts of papers to be read at society meetings.