Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis |
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| Authors: | D. Konrad R. Sossai H. L. Winklehner F. Binkert S. Artan A. F. Schärli |
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| Affiliation: | Department of Pediatric Surgery, Children's Hospital, Lucerne, Switzerland. |
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| Abstract: | A 45,X/46,Xidic(Y)(q11.2) 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. Accepted: 6 August 1999 |
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| Keywords: | Hypospadias Coarctation of the aorta Mixed gonadal dysgenesis Turner syndrome |
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