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  • Title: Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.
    Author: Matsubara K, Iwamoto H, Yoshida A, Ogata T.
    Journal: Fertil Steril; 2010 Dec; 94(7):2770.e7-10. PubMed ID: 20493473.
    Abstract:
    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.
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