Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome.
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 STSor 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 SRYgene revealed no mutations.


CONCLUSIONS
this patient, together with the recently reported consanguineous families, represent a previously unrecognised autosomal recessive trait with pleiotropic effects including XY gonadal dysgenesis.
Teebi
Ahmad S
AS
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. ateebi@sickkids.ca
Dupuis
Lucie
L
Wherrett
Diane
D
Khoury
Anthony
A
Zucker
Kenneth J
KJ
D000015:Abnormalities, Multiple; D000505:Alopecia / Q000151:congenital*; D018912:Arabs / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D004392:Dwarfism; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY; D006801:Humans; D007597:Jordan / Q000208:ethnology; D008831:Microcephaly; D012871:Skin Diseases / Q000151:congenital*; D013577:Syndrome