Wang Ruifang, Dong Zhiya, Wang Wei, Xiao Yuan, Ni Jihong, Wang Defen
J Pediatr Endocrinol Metab. 2013;26(9-10):887-93. doi: 10.1515/jpem-2012-0316.
To investigate the prevalence of genetic mutations in steroid 5α-reductase-2 (SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) in Chinese children with hypospadias, and to also explore the possible underlying molecular mechanisms of this disease.
A total of 52 boys with hypospadias were enrolled. Mutational analyses of the SRD5A2, AR and SF-1 genes were performed by direct sequencing.
SRD5A2 gene mutations were found in 13.5% (7/52 cases), including five compound heterozygotic and two homozygotic mutations. One novel heterozygotic SF-1 gene mutation was identified in a patient with perineal hypospadias and cryptorchidism, the patient's mother also had the same mutation. No mutation was found in the AR gene. The clinical manifestations of patients with mutations in SRD5A2 or SF-1 varied.
In Chinese patients, SRD5A2 gene mutations were, relatively, frequently associated with hypospadias. The SF-1 gene may be another candidate gene for hypospadias. In contrast, AR gene mutations are not commonly associated with this condition.
研究中国尿道下裂患儿中类固醇5α-还原酶2（SRD5A2）、雄激素受体（AR）和类固醇生成因子-1（SF-1）基因突变的发生率，并探讨该疾病可能的潜在分子机制。
共纳入52例尿道下裂男孩。通过直接测序对SRD5A2、AR和SF-1基因进行突变分析。
在13.5%（7/52例）的患儿中发现SRD5A2基因突变，包括5例复合杂合突变和2例纯合突变。在1例会阴型尿道下裂合并隐睾症患儿中鉴定出1种新的SF-1基因杂合突变，其母亲也有相同突变。AR基因未发现突变。SRD5A2或SF-1基因突变患儿的临床表现各异。
在中国患者中，SRD5A2基因突变与尿道下裂相对频繁相关。SF-1基因可能是尿道下裂的另一个候选基因。相比之下，AR基因突变与该病通常无关。
