Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

Authors
Konrad, D Sossai, R Winklehner, HL Binkert, F Artan, S Scharli, AF
Citation
D. Konrad et al., Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis, PEDIAT SURG, 16(3), 2000, pp. 226-228
Citations number
10
Categorie Soggetti
Pediatrics
Journal title
PEDIATRIC SURGERY INTERNATIONAL
ISSN journal
01790358 → ACNP
Volume
16
Issue
3
Year of publication
2000
Pages
226 - 228
Database
ISI
SICI code
0179-0358(200003)16:3<226:PHACOT>2.0.ZU;2-S
Abstract
A 45,X/46,Xidic(Y)(q1 1.2) mosaicism was found in a 4-year-old boy. The cli nical 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 revea led normal prepubertal testicular tissue. A chromosome analysis in all boys with penoscrotal, scrotal, or perineal hypospadias and a thorough examinat ion of the heart in children with 45,X/46,XY mosaicism are recommended.