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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Achenbach TM, Edelbrock C (1983) Manual for the child behavior checklist and revised child behavior profile. University of Vermont, Department of Psychiatry, Burlington, VT
Baraitser M, Carter CO, Brett EM (1983) A new alopecia/mental retardation syndrome J Med Genet 20: 64–65
El-Shanti H, Ahmad M, Ajlouni K (2003) Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome. Eur J Pediatr 162: 36–40
Haeringen AV, Hurst JA, Savidge R, Baraitser M (1990) A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures. J Med Genet 27: 127–129
Hannig VL, Tiller GE (1995) Alopecia/mental retardation syndrome. Am J Med Genet 58: 123–124
Hennekam RCM, Renckens-Wennen EGCM (1990) Acquired alopecia, mental retardation, short stature, microcephaly and optic atrophy. J Med Genet 27: 635–636
Lungarotti MS, Martello C, Barboni G, Mezzetti D, Mariotti G, Calabro A (1994) X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family. Am J Med Genet 51: 598–601
Mosavy SH (1975) Universal alopecia and microcephaly in 4 siblings. S Afr Med J 49: 172
Pfeiffer RA, Völkein J (1982) Congenital universal alopecia, mental deficiency, and microcephaly in two sibs J Med Genet 19: 388–389
Pinsky L, Erickson RP, Schimke RN (1999) Genetic disorders of human sexual development. Oxford University Press, New York
Pridmove C, Baraitser M, Brett EM (1992) Alopecia, mental retardation, epilepsy and microcephaly in two cousins. Clin Dysmorphol 1: 79–84
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 1477–1500
Wessel HB, Barmada MA, Hashida Y (1987) Congenital alopecia, seizures and psychomotor retardation in three siblings. Pediatr Neurol 3: 101–107
Zucker KJ, Bradley SJ, Lowry Sullivan CV, Kuksis M, Birkenfeld-Adams A, Mitchell JN (1993) A gender identity interview for children. J Pers Assess 61: 443–456
Zucker KJ, Bradley SJ (1995) Gender identity disorder and psychosexual problems in children and adolescents. Guilford Press, New York
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.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Teebi, A.S., Dupuis, L., Wherrett, D. et al. Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome. Eur J Pediatr 163, 170–172 (2004). https://doi.org/10.1007/s00431-003-1380-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-003-1380-y