Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
Fertil Steril. 2010 Dec;94(7):2770.e7-10. doi: 10.1016/j.fertnstert.2010.04.013. Epub 2010 May 20.
To report semen parameters and successful paternity by intracytoplasmic sperm injection (ICSI) in a male patient with molecularly confirmed steroid 5α-reductase-2 deficiency.
Case report.
National research institute and an infertility clinic.
PATIENT(S): A 29-year-old Japanese man with 5α-reductase-2 deficiency who had failed to have a child despite an ordinary conjugal life for 2 years with his wife.
INTERVENTION(S): Mutation analysis, semen analysis, and execution of ICSI.
MAIN OUTCOME MEASURE(S): Mutation detection, semen assessment, and production of a child.
RESULT(S): Mutation analysis revealed a homozygous p.R246Q missense mutation on exon 5 of SRD5A2. Semem analysis showed oligozoospermia (semen volume 0.3 mL, sperm count 15 × 10(6)/mL, total sperm count 4.5 × 10(6), motile cells 17%, and normal morphologic sperm 8%). ICSI resulted in a production of a healthy male infant.
CONCLUSION(S): The results, in conjunction with those of previously reported patients who received semen analysis and/or achieved paternity, suggest that male patients with 5α-reductase-2 deficiency, especially those with hypomorphic mutations including p.R246Q, could retain some degree of spermatogenic function and achieve paternity with and without assisted reproductive technology.
报道通过卵胞浆内单精子注射（ICSI）在一名经分子证实的甾体 5α-还原酶-2 缺乏症男性患者中获得的精液参数和成功的亲代关系。
病例报告。
国家研究所和不孕不育诊所。
一名 29 岁的日本男性，患有 5α-还原酶-2 缺乏症，尽管与妻子过着普通的婚姻生活已有 2 年，但仍未能生育。
突变分析、精液分析和 ICSI 执行。
突变检测、精液评估和生育子女。
突变分析显示 SRD5A2 外显子 5 上存在纯合 p.R246Q 错义突变。精液分析显示少精子症（精液量 0.3 毫升，精子计数 15×10^6/毫升，总精子计数 4.5×10^6，活动细胞 17%，正常形态精子 8%）。ICSI 导致健康男性婴儿的出生。
这些结果与之前接受精液分析和/或实现亲代关系的报告患者的结果相结合，表明 5α-还原酶-2 缺乏症的男性患者，特别是那些具有包括 p.R246Q 在内的低功能突变的患者，可能保留一定程度的生精功能，并通过或不通过辅助生殖技术实现亲代关系。
