Alopecia congenita universalis,microcephaly, cutis marmorata,short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome |
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Authors: | Email author" target="_blank">Ahmad?S?TeebiEmail author Lucie?Dupuis Diane?Wherrett Anthony?Khoury Kenneth?J?Zucker |
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Institution: | (1) Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada;(2) Division of Endocrinology, The Hospital for Sick Children, Toronto, Ontario, Canada;(3) Division of Urology, The Hospital for Sick Children, Toronto, Ontario, Canada;(4) Child and Adolescent Gender Identity Clinic, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada |
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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. |
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Keywords: | Alopecia Microcephaly Sex reversal XY gonadal dysgenesis |
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