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Eur J Pediatr (2004) 163: 170172 DOI 10.1007/s00431-003-1380-y
ORIGINAL PAPER
Ahmad S. Teebi Lucie Dupuis Diane Wherrett Anthony Khoury Kenneth J. Zucker
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome
Received: 17 July 2003 / Accepted: 6 November 2003 / Published online: 23 December 2003 Springer-Verlag 2003
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 rst cousin Arab parents who had alopecia, microcephaly, cutis marmorata, short stature and borderline cognitive development. Karyo-type 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 prole 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 eects including XY gonadal dysgenesis.
Keywords Alopecia Microcephaly Sex reversal XY gonadal dysgenesis
Introduction Alopecia-microcephaly is a rare but well recognised syndromic association that is clinically and genetically heterogeneous [2, 4, 5, 6, 7, 8, 9, 11, 13]. Mental retardation with or without seizures is a constant nding. Most instances are apparently of autosomal recessive inheritance pattern; however, autosomal dominant or X-linked transmission is a possibility in some families [4, 6, 7, 11].
Sex reversal syndromes, either complete or partial, also constitute a heterogeneous group and include syndromes with or without involvement of the SRY gene, which is implicated in male dierentiation [3, 10]. Recently [12], alopecia and sex reversal with laryngomalacia has been reported in two unrelated Arab families from Jordan. The clinical presentation of the XY gonadal dysgenesis was ambiguous genitalia appearing as female or occasionally male. We report a female child of consanguineous Arab parents with the constellation of alopecia and XY gonadal dysgenesis with incomplete sex reversal together with microcephaly and borderline intelligence.
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