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.
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.
Authors: Meshael M Alswailem; Ohoud S Alzahrani; Lamyaa Alghofaili; Ebtesam Qasem; Mai Almohanaa; Afaf Alsagheir; Bassam Bin Abbas; Najya A Attia; Adnan Al Shaikh; Ali S Alzahrani Journal: Endocrine Date: 2018-09-29 Impact factor: 3.633