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, cilt.26, ss.19-21, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 26 Konu: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.jpag.2011.12.066
  • Dergi Adı: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY
  • Sayfa Sayıları: ss.19-21

Özet

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.