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European Journal of Pediatrics

, Volume 163, Issue 3, pp 170–172 | Cite as

Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome

  • Ahmad S. Teebi
  • Lucie Dupuis
  • Diane Wherrett
  • Anthony Khoury
  • Kenneth J. Zucker
Original Paper

Abstract

Alopecia congenita, laryngomalacia, and XY gonadal dysgenesis has been reported recently as a new syndrome in two unrelated Arab families from Jordan. We report a 4-year-old girl of first cousin Arab parents who had alopecia, microcephaly, cutis marmorata, short stature and borderline cognitive development. Karyotype analysis revealed a male constitution (46,XY) with no deletion of STS or SRY. She showed entirely normal female external genitalia and absence of female internal genitalia. Histological examination of the very small testicles found on laparascopy showed developed spermatic cords and paratesticular tissue with no testicular parenchyma, no Sertoli or Leydig cell development, and no seminiferous tubular development. Hormonal profile was that of a normal female child. Southern blotting and PCR assays showed an intact Y chromosome. Limited sequencing of the SRY gene revealed no mutations. Conclusion: this patient, together with the recently reported consanguineous families, represent a previously unrecognised autosomal recessive trait with pleiotropic effects including XY gonadal dysgenesis.

Keywords

Alopecia Microcephaly Sex reversal XY gonadal dysgenesis 

Notes

Acknowledgements

We are grateful to Dr David Page from Howard Hughes Medical Institute Research Laboratories, Cambridge, Massachusetts for performing SRY studies. Also we thank Rozmin Visram for secretarial assistance.

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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Ahmad S. Teebi
    • 1
  • Lucie Dupuis
    • 1
  • Diane Wherrett
    • 2
  • Anthony Khoury
    • 3
  • Kenneth J. Zucker
    • 4
  1. 1.Division of Clinical and Metabolic GeneticsThe Hospital for Sick ChildrenTorontoCanada
  2. 2.Division of EndocrinologyThe Hospital for Sick ChildrenToronto Canada
  3. 3.Division of UrologyThe Hospital for Sick ChildrenToronto Canada
  4. 4.Child and Adolescent Gender Identity Clinic, Centre for Addiction and Mental HealthUniversity of TorontoToronto Canada

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