Table 3.

Gene mutations leading to amenorrhea

Defect	Location of gene	Phenotype	Key features	Inheritance
GnRH receptor gene mutations	4q13.1	Female	Amenorrhea	Autosomal recessive
FSHB gene mutations	11p13	Female	Primary amenorrhea	Autosomal recessive
FSHR gene	2p21	Female	Primary amenorrhea	Autosomal recessive
LHR gene mutations	2p16-21	Female	Primary amenorrhea	Autosomal recessive