Isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHbeta gene and successful treatment with human menopausal gonadotropin.
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.
Murao
Koji
K
Department of Internal Medicine, Division of Endocrinology and Metabolism, Faculty of Medicine, Kagawa University, Kagawa, Japan. mkoji@kms.ac.jp
Imachi
Hitomi
H
Muraoka
Tomie
T
Fujiwara
Mako
M
Kushida
Yoshio
Y
Haba
Reiji
R
Ishida
Toshihiko
T
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
D005303:Fertility Agents, Male; D043373:Follicle Stimulating Hormone, Human; D037201:Follicle Stimulating Hormone, beta Subunit; D008596:Menotropins