|?|| (G;G) (G;T) (T;T) ||28|
|| AFFECT FUNCTION
| Disease Association
|| Defects in AMH are the cause of persistent Muellerian duct syndrome type I (PMDS-1) (MIM:261550). PMDS-1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
[PMID 17636279] A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity.
[PMID 18230658] A functional anti-mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 23544102] Interactions between genetic variants in AMH and AMHR2 may modify age at natural menopause
[PMID 23371438] Haplotype analysis of single nucleotide polymorphisms in anti-Mullerian hormone gene in Chinese PCOS women.
[PMID 26464718] Possible involvement of single nucleotide polymorphisms in anti-Müllerian hormone signaling pathway in the pathogenesis of early OHSS in Han Chinese women