Table 1.

Clinical Manifestations of Activating and Inactivating Mutations of the hLHR Gene in 46,XY and 46,XX Individuals

hLHR Mutation	46,XY Individuals	46,XX Individuals
Activating	Familial or sporadic pseudoprecocious puberty	Asymptomatic
Inactivating:
Severe defect	Leydig-cell hypoplasia with complete female external genitalia	Menstrual disorders, cystic ovaries, and infertility
Mild defect	Micropenis and/or hypospadias	Not described