To describe the case of isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHβ gene.
Design
Case report.
Setting
Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Kagawa, Japan.
Patient(s)
A 22-year-old man referred for infertility, azoospermia, and isolated FSH deficiency.
Intervention(s)
The patient's FSHβ 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).
Main Outcome Measure(s)
Pathologic examination revealed hypospermatogenesis with isolated FSH deficiency without mutation of the FSHβ gene.
Result(s)
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.
Conclusion(s)
We report the case of an infertile male with isolated FSH deficiency without any evidence of mutation in the FSHβ gene.
Key Words
FSH
hMG
mutation
azoospermia
Cited by (0)
K.M. has nothing to disclose. H.I. has nothing to disclose. T.M. has nothing to disclose. M.F. has nothing to disclose. Y.K. has nothing to disclose. R.H. has nothing to disclose. T.I. has nothing to disclose.