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

Dane, Cem; Karaca, Aysegul; Karaca, Ender; Dane, Banu

doi:10.1016/j.jpag.2011.12.066

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

Atıf İçin Kopyala

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

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY, cilt.26, sa.1, ss.19-21, 2013 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 26 Sayı: 1
Basım Tarihi: 2013
Doi Numarası: 10.1016/j.jpag.2011.12.066
Dergi Adı: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.19-21
İstanbul Üniversitesi Adresli: Hayır

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.