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, cilt.16, sa.3, ss.226-228, 2000 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 3
  • Basım Tarihi: 2000
  • Doi Numarası: 10.1007/s003830050731
  • Dergi Adı: PEDIATRIC SURGERY INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.226-228
  • Anahtar Kelimeler: hypospadias, coarctation of the aorta, mixed gonadal dysgenesis, Turner syndrome, 45,X/46,XY MOSAICISM, CARCINOMA
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.