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

Related

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

References

Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998