title: Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility.
abstract: OBJECTIVE
  To find the underlying defect in a case of primary FSH deficiency and to estimate the beneficial effect of FSH treatment.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University hospital fertility clinic.
  
  
  METHODS
  Normal, healthy, 37-year-old male patient with severe oligoteratozoospermia.
  
  
  METHODS
  Levels of FSH, LH, LHRH provocation test, karyotyping, genomic analysis on the Y-chromosomal AZF region and sequencing of the FSHB gene, FSH treatment.
  
  
  METHODS
  We compiled detailed clinical and molecular data on four pregnancies. We compare this case with a similar case published recently.
  
  
  RESULTS
  There were detectable but very low FSH levels after LHRH provocation; the LH response was not entirely normal, and no genomic abnormalities were found in the FSHB gene. The FSH treatment resulted in four pregnancies, two of which ended in abortion; the other two resulted in the birth of two healthy children. Both our case and the published case had detectable but abnormally low FSH levels on some occasions, but normal or highly normal inhibin B levels that differed from the expected low levels. Both patients had a normal male phenotype and no detectable mutation in the FSHB gene. The published case differed from our patient in that the published case was azoospermic whereas ours was extremely oligoteratozoospermic. The beneficial effect of FSH treatment was only shown in our patient.
  
  
  CONCLUSIONS
  The published case and ours may have a common, as yet unidentified, underlying defect. The dramatic and immediate effect of FSH treatment on our patient's fertility was clearly demonstrated.
authors.affiliation: Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands. j.c.giltay@dmg.azu.nl
authors.forename: Jacques C
authors.initials: JC
authors.lastname: Giltay
authors.forename: Marjolein
authors.initials: M
authors.lastname: Deege
authors.forename: Rien A
authors.initials: RA
authors.lastname: Blankenstein
authors.forename: Peter M M
authors.initials: PM
authors.lastname: Kastrop
authors.forename: Cisca
authors.initials: C
authors.lastname: Wijmenga
authors.forename: Tycho T W T
authors.initials: TT
authors.lastname: Lock
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use*; D037201:Follicle Stimulating Hormone, beta Subunit / Q000235:genetics; D006728:Hormones / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use*; D006801:Humans; D007248:Infertility, Male / Q000188:drug therapy* / Q000209:etiology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications; D009845:Oligospermia / Q000209:etiology*; D011247:Pregnancy; D016896:Treatment Outcome
chemical_list: D037201:Follicle Stimulating Hormone, beta Subunit; D006728:Hormones; D005640:Follicle Stimulating Hormone; D004247:DNA