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.

引用

页码：226 / 228

页数：2

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