Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome
- 67 Downloads
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.
KeywordsAlopecia Microcephaly Sex reversal XY gonadal dysgenesis
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.
- 1.Achenbach TM, Edelbrock C (1983) Manual for the child behavior checklist and revised child behavior profile. University of Vermont, Department of Psychiatry, Burlington, VTGoogle Scholar
- 2.Baraitser M, Carter CO, Brett EM (1983) A new alopecia/mental retardation syndrome J Med Genet 20: 64–65Google Scholar
- 9.Pfeiffer RA, Völkein J (1982) Congenital universal alopecia, mental deficiency, and microcephaly in two sibs J Med Genet 19: 388–389Google Scholar
- 10.Pinsky L, Erickson RP, Schimke RN (1999) Genetic disorders of human sexual development. Oxford University Press, New YorkGoogle Scholar
- 12.Simpson JL (1996) Disorders of the gonads, genital tract and genitalia. In: Rimoin D, Connor JM, Pyeritz RE (eds) Emery and Rimoin’s principles and practice of medical genetics, 3rd edn. Churchill-Livingstone, New York, pp 1477–1500Google Scholar
- 15.Zucker KJ, Bradley SJ (1995) Gender identity disorder and psychosexual problems in children and adolescents. Guilford Press, New YorkGoogle Scholar