title: Isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHbeta gene and successful treatment with human menopausal gonadotropin.
abstract: OBJECTIVE
  To describe the case of isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHbeta gene.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Kagawa, Japan.
  
  
  METHODS
  A 22-year-old man referred for infertility, azoospermia, and isolated FSH deficiency.
  
  
  METHODS
  The patient's FSHbeta gene was sequenced. Pituitary function at baseline and after repeated GnRH administration was evaluated. Testicular biopsy was performed. The patient was treated with human menopausal gonadotropin (hMG).
  
  
  METHODS
  Pathologic examination revealed hypospermatogenesis with isolated FSH deficiency without mutation of the FSHbeta gene.
  
  
  RESULTS
  The FSH levels remained below the normal range despite repeated GnRH stimulation. Hypospermatogenesis was confirmed by testicular biopsy. After 6 months of hMG treatment, spermatogenesis was successfully induced.
  
  
  CONCLUSIONS
  We report the case of an infertile male with isolated FSH deficiency without any evidence of mutation in the FSHbeta gene.
authors.affiliation: Department of Internal Medicine, Division of Endocrinology and Metabolism, Faculty of Medicine, Kagawa University, Kagawa, Japan. mkoji@kms.ac.jp
authors.forename: Koji
authors.initials: K
authors.lastname: Murao
authors.forename: Hitomi
authors.initials: H
authors.lastname: Imachi
authors.forename: Tomie
authors.initials: T
authors.lastname: Muraoka
authors.forename: Mako
authors.initials: M
authors.lastname: Fujiwara
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Kushida
authors.forename: Reiji
authors.initials: R
authors.lastname: Haba
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Ishida
mesh_terms: D053713:Azoospermia / Q000188:drug therapy* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D005303:Fertility Agents, Male / Q000627:therapeutic use*; D043373:Follicle Stimulating Hormone, Human / Q000172:deficiency* / Q000235:genetics; D037201:Follicle Stimulating Hormone, beta Subunit / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008596:Menotropins / Q000627:therapeutic use*; D009154:Mutation; D010901:Pituitary Function Tests; D013091:Spermatogenesis / Q000187:drug effects*; D013737:Testis / Q000187:drug effects* / Q000473:pathology / Q000503:physiopathology; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D005303:Fertility Agents, Male; D043373:Follicle Stimulating Hormone, Human; D037201:Follicle Stimulating Hormone, beta Subunit; D008596:Menotropins