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Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

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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.

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Authors and Affiliations

  1. Department of Pediatric Surgery, Children's Hospital, Lucerne, Switzerland, , , , , , CH

    D. Konrad, R. Sossai & A. F. Schärli

  2. Department of Pediatric Cardiology, Children's Hospital, Lucerne, Switzerland, , , , , , CH

    H. L. Winklehner

  3. Institute of Medical Genetics, University of Zurich, Zurich, Switzerland, , , , , , CH

    F. Binkert & S. Artan

Authors
  1. D. Konrad
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  2. R. Sossai
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  3. H. L. Winklehner
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  4. F. Binkert
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  5. S. Artan
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  6. A. F. Schärli
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Accepted: 6 August 1999

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Konrad, D., Sossai, R., Winklehner, H. et al. Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis. Pediatr Surg Int 16, 226–228 (2000). https://doi.org/10.1007/s003830050731

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  • DOI: https://doi.org/10.1007/s003830050731

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