Table 1.
Patient phenotypic features
| Classification | North/South American and European MRKH cohort (n = 148) | Han Chinese MRKH cohort (n = 442) |
|---|---|---|
| MRKH type I | 85 (57.4%) | 330 (74.7%) |
| MRKH type II | 50 (33.8%) | 109 (25.3%) |
| MURCS | 13 (8.8%) | 3 (0.7%) |
| Extragenital Malformations | North/South American and European MRKH cohort (n = 136)a | Han Chinese MRKH cohort (n = 442) |
| Skeletal anomaly | 28 (20.6%) | 90 (20.1%) |
| Kidney anomaly | 41 (30.1%) | 46 (10.4%) |
| Ocular/Hearing | 3 (2.2%) | 2 (0.5%) |
| Cardiac | 2 (1.4%) | 1 (0.2%) |
Abbreviations: MRKH, Mayer–Rokitansky–Küster–Hauser syndrome; MURCS, Müllerian Renal Cervical Somite.
a
Detailed phenotypic information on extragenital malformations not present for 12 MRKH Type II probands which were excluded from extragenital malformation counts and percentages.