男性假两性畸形一例报道及基因突变分析

Male pseudohermaphroditism and gene mutation analysis：one case report

研究和分析1例男性假两性畸形孤立性17,20-碳链裂解酶缺陷症患者的临床特点及相关基因序列变化。患者社会性别女性,30岁,染色体核型46,XY,骨骺未闭合,会阴部包块切除术后,高促性腺激素性性腺功能减退,糖皮质激素、盐皮质激素正常。检测到 POR 基因第13外显子 c.1508C＆gt;T （ p. A503V）杂合突变和第11内含子9个核苷酸（TCAGCCCCC）的缺失。此突变可能导致了孤立性17,20-碳链裂解酶缺陷症的发生。

[Summary] The clinical and genetic characteristics of a patient with male pseudohermaphroditism, being considered as an isolated 17, 20-lyase deficiency case, were analyzed. The social gender of the patient aged 30-year-old was female. The patient presented with 46, XY karyotype, unclosed epiphysis, after perineal block resection, hypergonadotropic hypogonadism, while the production of mineralocorticoids and glucocorticoids hormone was intact. A503V heterozygous mutation in exon 13 and a deletion in intron 11 of POR gene were detected. The gene mutations may lead to the occurrence of the isolated 17,20-lyase deficiency.