Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency

Objective To report semen parameters and successful paternity by intracytoplasmic sperm injection (ICSI) in a male patient with molecularly confirmed steroid 5α-reductase-2 deficiency. Design Case report. Setting 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.