Unicornuate Uterus with Multiple Skeletal Defects and Large Regions of Homozygosity

The presence of any three of the vertebral defects, anal atresia, cardiac defects, trachea-esophageal fistula, renal or limb anomalies describes VACTERL/VATER syndrome. In addition to these defects, patients may have other anomalies and its incidence ranges between 1 in 10,000 to 1 in 40,000 live born infants. This is a case report for a 13-year old nulligravida who presented with primary amenorrhea and pelvic pain. Clinical examination revealed immature secondary sexual characteristics, a blind vagina and multiple skeletal defects. Ultrasound reported Hematometra, hematocolpos and right hematosalpinx. The solid structure in the lower end of the vagina represents either a thick transverse lower vaginal septum or agenesis of the lower vagina. Pelvic magnetic resonance concurred with the ultrasound findings. A skeletal survey was performed which showed S- shaped scoliosis of the thoracolumbar spine contracted deformed pelvis with bilateral hip dislocation. Trans esophageal Echocardiography reported small ASD-II, and trivial tricuspid regurge. The karyotype was 46XX. Chromosomal microarray revealed several large regions of homozygosity with at least 6% of the genome. The patient was diagnosed as mullerian hypoplasia class II according to the standard American Fertility Society in addition to multiple skeletal deformities along with large regions of homozygosity. The reconstructive surgical approach and hysterectomy options were discussed. Hysterectomy was performed.