类固醇生成因子-1基因异常可导致46，XY严重睾丸发育不全

46，XY severe testicular dysgenesis induced by steroidogenic factor -1 gene deficiency

摘要:

目的：在46，XY尿道下裂或隐睾病例中寻找类固醇生成因子-1（Steroidogenic factor-1，SF-1）基因异常情况，通过分析基因型与患儿表型的关系揭示SF-1基因在人类性腺分化发育中的作用机制。方法：收集60例46，XY 尿道下裂或隐睾且肾上腺功能正常的患者和40例外生殖器发育正常的男性儿童分别为病例组和正常对照组，对所有研究对象的SF-1基因进行测序，测序结果用标准核苷酸BLAST软件进行序列比对。结果：本研究发现了1例SF-1基因突变，为杂合子缺失c.11835delC。该患儿的表型为尿道下裂会阴型伴双侧隐睾、生后呈女性外阴，严重的男性化不全。此外，还发现1个SF-1基因多态性位点rs1110061（G/C），等位基因G/C的频率在病例组及正常对照组中分布无明显统计学差异。结论：SF-1基因异常可能是46，XY尿道下裂或隐睾患儿的病因之一，其表型为46，XY严重男性化不全、严重睾丸发育异常。

Abstract:

Objective：To research the mutation of steroidogenic factor-1（SF-1） gene from 46，XY hypospadias including cryptorchidism and to analyze the relationship between genotypes and phenotypes to reveal the action of SF-1 gene in human gonadal differentiation and development. Methods：Sixty 46，XY hypospadias including cryptorchidism subjects without adrenal insufficiency were enrolled as case group and 40 healthy male children with normal genital development were enrolled as normal control group. The SF-1 genes of all subjects were sequenced，then for DNA sequence alignment using standard nuclear BLAST. Results：Heterozygous deletion（c.11835delC） of SF-1 gene was detected in one case. The patient was manifested with female genitalia at birth，perineal hypospa－dias with bilateral cryptorchidism and sever underandrogenization. One single nucleotide polymorphism（SNP） rs1110061（G/C） of SF-1 gene was found. No significant statistical difference in the allele G/C frequency was found between case group and normal control group. Conclusions：SF-1 gene mutation may be one possible cause of 46，XY hypospadias including cryptorchidism，its phenotype is sever testicular dysgensis including sever underandrogenization.