Elsevier

Fertility and Sterility

Volume 90, Issue 5, November 2008, Pages 2012.e17-2012.e19
Fertility and Sterility

Case report
Isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHβ gene and successful treatment with human menopausal gonadotropin

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Objective

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.