Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome.

Case report


Haeusler G, Frisch H, Guchev Z, Hadziselimovic F, Neuhold A, Vormittag W.

Pediatric Department, University Hospital, Vienna, Austria.

Am J Med Genet. 1992 Sep 15;44(2):230-2.


A 3-year-old Libyan boy with the XXXXY syndrome is described. MRI examination of the brain showed hypoplasia of the corpus callosum. He had growth retardation and endocrine studies demonstrated growth hormone (GH) deficiency. Dermatoglyphic pattern was different from previous reports. At histological examination of the undescended testes, Leydig cells were seen although they are usually not found in this variant of the Klinefelter syndrome.

Keywords: dermatoglyphics • testicular biopsy • chromosomal aberration

Link/DOI: http://www3.interscience.wiley.com/cgi-bin/abstract/110524441/ABSTRACT