Department of Urology, Northwestern University, Evanston, Illinois.
Division of Pediatric Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
J Urol. 2020 Aug;204(2):345-352. doi: 10.1097/JU.0000000000000810. Epub 2020 Feb 24.
The prevalence of endocrine/genetic anomalies in boys with proximal hypospadias is unknown. We describe an endocrine/genetic evaluation for boys with proximal hypospadias to determine who may have a difference/disorder of sex development and/or benefit from additional testing.
We retrospectively reviewed boys with hypospadias seen at our hospital between January 2013 and October 2018. Those with proximal (penoscrotal, scrotal, perineal) hypospadias who presented before age 6 months and underwent endocrine/genetic testing were included. Demographics, test results, testicular examination at presentation, comorbidities and diagnoses were abstracted.
A total of 1,789 boys with hypospadias were identified. Of 131 boys with proximal hypospadias all 60 who underwent endocrine/genetic evaluation were included. Most of these patients had bilateral palpable testes (52, 86%) that were fully descended (41, 68%). Associated anatomical anomalies were found in 53% of patients. All boys underwent endocrine testing, which was completely typical for a male infant in most (41, 68%). Common genetic tests included karyotyping (100%), microarray (38%) and multigene panel (13%). Genetic anomalies were found in 17 boys (28%), including 7 of 41 (17%) with bilateral descended testes and 10 of 19 (53%) with 1 or more undescended testes (p=0.01). Six of 8 boys with at least 1 nonpalpable testis had a genetic anomaly vs 11 of 52 with bilateral palpable testes (p=0.005). Differences/disorders of sex development were found in 9 patients (15%).
Of 60 boys with proximal hypospadias 53% had nongenital anomalies, 28% had genetic anomalies and 15% had a difference/disorder of sex development. Although endocrine testing was clinically useful, genetic testing was most diagnostically revealing. Endocrine/genetic evaluation should be considered for boys with proximal hypospadias.
患有近端型尿道下裂的男童中，内分泌/遗传异常的发生率尚不清楚。我们描述了一种针对近端型尿道下裂男童的内分泌/遗传评估方法，以确定哪些患者可能存在性别发育差异/障碍，或需要进一步检查。
我们回顾性分析了 2013 年 1 月至 2018 年 10 月期间在我院就诊的患有尿道下裂的男童。符合以下标准的近端型（阴茎阴囊型、阴囊型、会阴型）尿道下裂男童被纳入研究：6 个月龄前就诊且接受了内分泌/遗传检查。我们对患儿的人口统计学特征、检查结果、就诊时睾丸检查、合并症和诊断进行了分析。
共 1789 例尿道下裂男童纳入研究。131 例近端型尿道下裂男童中，有 60 例行内分泌/遗传评估，均纳入本研究。这些患儿中，60（86%）例双侧睾丸可触及，均完全下降（41，68%）。53%的患儿存在合并的解剖学异常。所有患儿均接受了内分泌检查，其中大多数（41，68%）的结果符合男性婴儿的典型特征。常见的基因检查包括核型分析（100%）、微阵列分析（38%）和多基因panel 分析（13%）。17 例患儿（28%）发现存在遗传异常，包括双侧睾丸下降患儿中 7 例（17%）和单侧或双侧睾丸未降患儿中 10 例（53%）（p=0.01）。8 例至少有 1 个不可触及睾丸的患儿中有 6 例（75%）存在遗传异常，而 52 例双侧睾丸可触及的患儿中有 11 例（21%）存在遗传异常（p=0.005）。9 例（15%）患儿发现存在性别发育差异/障碍。
在 60 例近端型尿道下裂男童中，53%存在非生殖器畸形，28%存在遗传异常，15%存在性别发育差异/障碍。虽然内分泌检查具有临床应用价值，但基因检查更具诊断意义。对于近端型尿道下裂男童，应考虑进行内分泌/遗传评估。
