Isolated Follicle-Stimulating Hormone (FSH) Deficiency in Male Sex: A Case Report
Daniela M Soares, Jorge Diogo Silva, Ana Rita Soares, André Couto de Carvalho · 2025
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Description
Daniela Soares and three co-authors wrote this 2025 case report on a rare hormone lack hiding behind an unrelated complaint. A man of thirty was referred for breast pain and swelling of both breasts. Blood work showed an underactive thyroid with autoimmune markers. More unusually, it showed very low levels of follicle-stimulating hormone, with normal testosterone and normal levels of its sister hormone.
A stimulation test confirmed the pituitary barely answered for that hormone. That is the signature of isolated FSH deficiency, a rare inherited disorder usually found during fertility work-ups. Genetic testing found no change in the hormone's beta subunit gene. Full exome sequencing found no known culprit either. The authors note the condition is probably missed often in men, since testosterone stays normal and manhood masks it. They urge clinicians to keep it in mind.
Catalog record
| CREATOR | Daniela M Soares, Jorge Diogo Silva, Ana Rita Soares, André Couto de Carvalho |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 12 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |