Lavoie Callum, Chun Brian, Au Melanie, Do Christine, Sparks S Scott, Chang Andy Y
Division of Urology, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Division of Urology, Children's Hospital Los Angeles, Los Angeles, CA, USA; California University of Science and Medicine, Colton, CA, USA.
J Pediatr Urol. 2025 Feb;21(1):71-77. doi: 10.1016/j.jpurol.2024.09.017. Epub 2024 Sep 24.
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.
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.
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.
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.
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.
尿道下裂和隐睾是常见的先天性疾病，分别影响约1/125和1/33的男孩。关于同时患有尿道下裂和隐睾病史的患者中性别发育障碍（DSD）患病率的当代数据有限。
我们的目的是确定患有尿道下裂和隐睾的患者中DSD的患病率。
设计、背景和参与者：回顾电子病历，并对2000年至2021年在我们机构接受评估且诊断为尿道下裂和隐睾的177例患者进行回顾性病历审查。记录尿道下裂的程度、隐睾的存在及可触及情况，以及DSD的患病率和类型。
记录尿道下裂的程度、隐睾的存在及可触及情况，以及DSD的患病率和类型。根据情况进行卡方检验和费舍尔精确检验以进行描述性统计分析。进行逻辑回归分析，调整后的模型包括人口统计学和相关临床数据。
确定177例患者同时患有尿道下裂和隐睾，其中17/111（15.3%）被诊断为DSD。DSD最常见的病因是混合性性腺发育不全（35.3%；n = 6）。近端尿道下裂在无DSD的患者中仅占59.6%，而在确诊为DSD的患者中占100%（p = 0.0044）。与无DSD的患者相比，DSD患者中双侧可触及性腺的比例明显更小（29.4%对79.8%，p < 0.0001）。与睾丸可触及的患者相比，有一个睾丸不可触及的患者患DSD的几率高达26.67倍。
迄今为止，我们展示了因尿道下裂和隐睾合并表现而接受DSD检查的最大患者队列。我们的研究结果突出了近端尿道下裂且隐睾不可触及的患者中DSD诊断的增加，这为所有近端尿道下裂且伴有隐睾的患者进行DSD诊断检查提供了进一步的证据和支持。
