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

Abstract

OBJECTIVE:

To describe the case of isolated follicle-stimulating hormone (FSH) deficiency without mutation of the FSHbeta 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 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).

MAIN OUTCOME MEASURE(S):

Pathologic examination revealed hypospermatogenesis with isolated FSH deficiency without mutation of the FSHbeta 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 FSHbeta gene.

• Authors: Koji Murao, Hitomi Imachi, Tomie Muraoka, Mako Fujiwara, Yoshio Kushida, Reiji Haba, Toshihiko Ishida
• Journal: Fertility and sterility (Fertil Steril) Vol. 90 Issue 5 Pg. 2012.e17-9 (Nov 2008) ISSN: 1556-5653 [Electronic] United States
• PMID: 18402948 (Publication Type: Case Reports, Journal Article)

Chemical References

• Fertility Agents, Male
• Follicle Stimulating Hormone, Human
• Follicle Stimulating Hormone, beta Subunit
• Menotropins

Topics

• Azoospermia (drug therapy, metabolism, pathology, physiopathology)
• Fertility Agents, Male (therapeutic use)
• Follicle Stimulating Hormone, Human (deficiency, genetics)
• Follicle Stimulating Hormone, beta Subunit (deficiency, genetics)
• Humans
• Immunohistochemistry
• Male
• Menotropins (therapeutic use)
• Mutation
• Pituitary Function Tests
• Spermatogenesis (drug effects)
• Testis (drug effects, pathology, physiopathology)
• Treatment Outcome
• Young Adult