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


Dane C., Karaca A., Karaca E., Dane B.

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY, vol.26, no.1, pp.19-21, 2013 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 1
  • Publication Date: 2013
  • Doi Number: 10.1016/j.jpag.2011.12.066
  • Journal Name: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.19-21

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.