The Incidence of Disorders of Sexual Differentiation and Chromosomal Abnormalities of Cryptorchidism and Hypospadias Stratified by Meatal Location
The Incidence of Disorders of Sexual Differentiation and Chromosomal Abnormalities of Cryptorchidism and Hypospadias Stratified by Meatal Location
复制标题
DOI：
10.1016/j.juro.2008.08.058
复制
发表时间：
2008-12-01
影响因子：
6.6
通讯作者：
Austin, Paul F.
中科院分区：
文献类型：
--
作者：
Cox, Michael J.;Coplen, Douglas E.;Austin, Paul F.
目的：建议对隐睾和尿道下裂患者进行常规核型分析。然而，尚不清楚是否应该对所有患者进行核型分析，或者根据尿道下裂的严重程度或程度进行定制。因此，我们分析了远端或近端尿道下裂并伴有隐睾的患者染色体异常的发生率。 材料和方法：我们回顾了 1994 年至 2006 年间在儿科医院治疗的隐睾和尿道下裂患者的记录。收集的数据包括核型分析、性腺可触诊以及手术时的尿道口和睾丸位置。患有回缩性睾丸和先天性肾上腺增生的患者被排除在分析之外。结果：我们确定了 44 名患有尿道下裂和隐睾的患者（26 名患有近端尿道下裂，18 名患有远端尿道下裂）。 25 名患者的核型信息可用（19 名患有近端尿道下裂，6 名患有远端尿道下裂）。远端尿道下裂和隐睾患者均未出现性染色体异常。相比之下，19 名近端尿道下裂和隐睾患者中有 6 名 (32%) 存在染色体异常。最常见的异常是 3 名患者的混合性性腺发育不全，其次是 2 名患者的常染色体易位和 1 名患者的 48XY 非整倍体。结论：当根据隐睾的尿道位置对核型信息进行分层时，我们发现远端尿道下裂和隐睾患者没有显着的染色体异常，而三分之一的近端尿道下裂和隐睾患者的核型异常。核型分析似乎对隐睾和近端尿道下裂患者很重要，但对远端尿道下裂和可触及睾丸未降的患者几乎没有益处。
Purpose: Routine karyotype analysis has been recommended for patients with cryptorchidism and hypospadias. However, it is unclear whether karyotyping should be obtained in all patients, or tailored to the severity or degree of hypospadias. Therefore, we analyzed the incidence of chromosomal abnormalities in patients with distal or proximal hypospadias and concomitant cryptorchidism.Materials and Methods: We reviewed the records of patients with cryptorchidism and hypospadias treated at a pediatric hospital between 1994 and 2006. Data collected included karyotype analysis, gonad palpability, and meatal and testes location at time of surgery. Patients with retractile testes and congenital adrenal hyperplasia were excluded from analysis.Results: We identified 44 patients with hypospadias and cryptorchidism (26 with proximal and 18 with distal hypospadias). Karyotype information was available in 25 patients (19 with proximal and 6 with distal hypospadias). None of the patients with distal hypospadias and cryptorchidism had an abnormality of a sex chromosome. In contrast, chromosomal abnormalities were present in 6 of 19 individuals (32%) with proximal hypospadias and cryptorchidism. The most common abnormality was mixed gonadal dysgenesis in 3 patients, followed by autosomal translocations in 2 and 48XY aneuploidy in 1.Conclusions: When karyotype information was stratified by meatal location with cryptorchidism we found no significant chromosomal abnormalities in distal hypospadias and cryptorchidism, whereas a third of patients with proximal hypospadias and cryptorchidism had an abnormal karyotype. Karyotype analysis appears to be important in individuals with cryptorchidism and proximal hypospadias but of little benefit in patients with distal hypospadias and palpable undescended testes.