Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Table 1 Summary of differential diagnosis between MRKH syndrome and isolated vaginal atresia, WNT4 syndrome, and androgen insensitivity syndrome.

	MRKH/MURCS	Isolated vaginal atresia	WNT4 syndrome	Androgen insensitivity
Upper vagina	Absent	Variable	Absent	Absent
Uterus	Absent	Present	Absent	Absent
Gonads	Ovary	Ovary	Masculinized ovary	Testis
Breast development	Normal	Normal	Normal	Normal
Pubic-hair development	Normal	Normal	Normal	Sparse
Hyperandrogenism	No	No	Yes	No
Karyotype	46, XX	46, XX	46, XX	46, XY

ISSN: 1750-1172