title: Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.
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.
  
  
  METHODS
  Case report.
  
  
  METHODS
  National research institute and an infertility clinic.
  
  
  METHODS
  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.
  
  
  METHODS
  Mutation analysis, semen analysis, and execution of ICSI.
  
  
  METHODS
  Mutation detection, semen assessment, and production of a child.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Matsubara
authors.forename: Hideki
authors.initials: H
authors.lastname: Iwamoto
authors.forename: Atsumi
authors.initials: A
authors.lastname: Yoshida
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D020125:Mutation, Missense; D010334:Paternity; D011247:Pregnancy; D055101:Semen Analysis / Q000379:methods; D020554:Sperm Injections, Intracytoplasmic; D016896:Treatment Outcome
chemical_list: D008565:Membrane Proteins; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548468:SRD5A2 protein, human