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

From: Mayer-Rokitansky-Küster-Hauser (MRKH) 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