Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

Konrad D., Sossai R., Winklehner H., Binkert F., Artan S., Scharli A.

PEDIATRIC SURGERY INTERNATIONAL, vol.16, no.3, pp.226-228, 2000 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 3
  • Publication Date: 2000
  • Doi Number: 10.1007/s003830050731
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.226-228
  • Keywords: hypospadias, coarctation of the aorta, mixed gonadal dysgenesis, Turner syndrome, 45,X/46,XY MOSAICISM, CARCINOMA
  • Eskisehir Osmangazi University Affiliated: Yes


A 45,X/46,Xidic(Y)(q1 1.2) mosaicism was found in a 4-year-old boy. The clinical appearance was characterized by bilateral cryptorchidism, penoscrotal hypospadias, short penis, and coarctation of the aorta. The latter is the only abnormality also seen in Turner syndrome. A biopsy of the gonads revealed normal prepubertal testicular tissue. A chromosome analysis in all boys with penoscrotal, scrotal, or perineal hypospadias and a thorough examination of the heart in children with 45,X/46,XY mosaicism are recommended.