Table 1 Patient profiles
Case | Hospital | Age (range) | Diagnosis | Other anomalies | Karyotype | Urological anomalies | Uterus/ovaries | Weight (kg) | Height (cm) | BMI (kg/m2) |
|---|---|---|---|---|---|---|---|---|---|---|
C1 | H1 | < 18 | MRKH syndrome | Umbilical hernia | – | No | Absent/both normal | 50 | 157 | 20 |
C2 | H1 | (18–21) | MRKH syndrome | – | 46XX | No | Absent/both normal | 51 | 165 | 18.2 |
C3 | H2 | (22–25) | MRKH syndrome | Scoliosis (op), hypoplasia MR | 46XX | No | Rudimentary/both normal | 51 | 160 | 19.9 |
C4 | H2 | (> 25) | MRKH syndrome | Congenital anomalies, “cat eye syndrome” | 47XX + mar [18], partial trisomy 22q11.2 in mosaic | Reflux VU (op), normal kidneys | Absent/both normal | 60.1 | 161 | 23.2 |
C5 | H1 | (18–21) | MRKH syndrome | Renal hypoplasia | 46XX | Right renal hypoplasia, previous left nephrectomy and kidney transplant | Absent/both normal | 63.3 | 154 | 26.8 |
C6 | H1 | (18–21) | Morris syndrome | Gonadectomy in childhood, Tietze syndrome | 46XY | No | Absent/both absent | 74 | 171 | 25 |
C7 | H1 | (18–21) | MRKH syndrome | Scoliosis, low back pain | 46XX | No | Absent/both normal | 58.2 | 155 | 24.3 |