Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

被引：0
|
作者：
D. Konrad
R. Sossai
H. L. Winklehner
F. Binkert
S. Artan
A. F. Schärli
机构：
[1] Department of Pediatric Surgery,
[2] Children's Hospital,undefined
[3] Lucerne,undefined
[4] Switzerland,undefined
[5] Department of Pediatric Cardiology,undefined
[6] Children's Hospital,undefined
[7] Lucerne,undefined
[8] Switzerland,undefined
[9] Institute of Medical Genetics,undefined
[10] University of Zurich,undefined
[11] Zurich,undefined
[12] Switzerland,undefined
[13] Universitäts-Kinderlinik,undefined
[14] Steinwiesstrasse 75,undefined
[15] CH-8032 Zürich,undefined
[16] Switzerland,undefined
来源：
Pediatric Surgery International | 2000年 / 16卷
关键词：
Key Words Hypospadias; Coarctation of the aorta; Mixed gonadal dysgenesis; Turner syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：226 / 228
页数：2
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