fertile eunuch syndrome

Etiology

• activating mutation in the FSH receptor

Pathology

• preservation of spermatogenesis in the face of low gonadotropin & testosterone levels

Genetics

• associated with activating mutations of the FSH receptor (FSHR)

Clinical manifestations

• testes are normal in size

Laboratory

• FSHR gene mutation

More general terms

• syndrome

Additional terms

• eunuchism
• follicle-stimulating hormone receptor; FSH-R; follitropin receptor (FSHR, LGR1)