A Complete Gonadal Dysgenesis Case with Mental Retardation, Congenital Hip Dislocation, Severe Vertebra Rotoscoliosis, Pectus Excavatus, and Spina Bifida Occulta

Abstract

Background: 46,XY, or Swyer syndrome, is a complete gonadal dysgenesis. Patients usually presents with primary amenorrhea with underdeveloped secondary sex characteristics. Phenotypes of these patients are female. In this report, a Swyer syndrome case is reported with novel clinical features that are classified as connective tissue disorders. This case and the 2 other previously reported Swyer syndrome cases with ascendant aortic aneurysm and diaphragmatic hernia are suggest that the Y chromosome has an important role in the structure of connective tissue.