Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis
PEDIATRIC SURGERY INTERNATIONAL, cilt.16, sa.3, ss.226-228, 2000 (SCI-Expanded, Scopus)
- 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.