The variant c.934C>T in AMH was significantly associated with isolated MRKH syndrome (P = 0.049 and OR = 0.346, 95%CI = 0.115–1.043), and it resulted in the change of arginine to cysteine at residue 312. The gene discussed is AMH; the disease is Mayer-Rokitansky-Kuster-Hauser syndrome.