Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility.
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.
Giltay
Jacques C
JC
Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands. j.c.giltay@dmg.azu.nl
Deege
Marjolein
M
Blankenstein
Rien A
RA
Kastrop
Peter M M
PM
Wijmenga
Cisca
C
Lock
Tycho T W T
TT
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
D037201:Follicle Stimulating Hormone, beta Subunit; D006728:Hormones; D005640:Follicle Stimulating Hormone; D004247:DNA