Isolated Follicle-Stimulating Hormone (FSH) Deficiency in Male Sex: A Case Report
Daniela M Soares1, Jorge Diogo Silva2, Ana Rita Soares2
1Endocrinology Department, Unidade Local de Saúde de Santo António, Porto, PRT.
Cureus
|February 3, 2026
Summary
Isolated FSH deficiency (IFD) is a rare inherited disorder affecting male fertility. This case highlights IFD
Area of Science:
- Endocrinology
- Reproductive Biology
- Genetics
Background:
- Follicle-stimulating hormone (FSH) is crucial for gonadal function, produced by the anterior pituitary.
- Isolated FSH deficiency (IFD) is a rare inherited disorder, often linked to β-subunit mutations, presenting in men with infertility, impaired spermatogenesis, and testicular atrophy.
- Normal testosterone and luteinizing hormone (LH) levels are typically observed in affected males.
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