<unk>  is a rare genetic disorder that affects females and it results in the underdevelopment and sometimes absence of the uterus and vagina.<unk>  is caused by mutations of the<unk>  gene. Abnormally high androgen levels are found in the blood and can initiate and promote the development of male sex characteristics. This is seen as male pattern of hair growth on the chest and face. Those with this genetic defect develop breasts but do not have their period. Mayer–Rokitansky–Küster–Hauser syndrome is a related but distinct syndrome. Some women who have an initial diagnosis of MRKH have later been found to have<unk> . Most women with MRKH syndrome do not have genetic mutations of the<unk>  gene. The failure to begin the menstrual cycle may be the initial clinical sign of<unk> .<unk>  can cause significant psychological challenges and counseling is recommended.
WNT4 deficiency
Janus kinase 3 deficiency
MECP2 duplication syndrome
GATA2 deficiency
ZC4H2 deficiency
DOCK8 deficiency
NGLY1 deficiency
8p23.1 duplication syndrome