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

Abstract

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.

Variable Associations of Klinefelter Syndrome in Children

“…This coincides with the findings of Haeusler et al. 24 that described a variant of KF with growth hormone deficiency but whose karyotype was 49,XXXXY. Sarri et al 25 and Takeuchi et al 26 reported an association between Klinefelter patients and hypothyroidism.…”

Brain Magnetic Resonance Imaging Findings in 49,XXXXY Syndrome

“…Galasso et al reported on a 12-year-old boy with microcephaly, developmental delay, and seizure disorder, whose brain magnetic resonance imaging indicated left cortical atrophy and enlarged lateral ventricles [9]. Haeusler et al reported on a 3-year-old boy who had hypoplasia of the corpus callosum and ventriculomegaly secondary to cortical atrophy [10]. Giedd et al used magnetic resonance quantitative analysis and reported a global lobar volume loss in the brains of XXY individuals, with sparing of the parietal regions [8].…”

Effects of sex chromosome aneuploidies on brain development: Evidence from neuroimaging studies

“…MRI results from a 4-year-old boy also showed global volume loss and scattered areas of white matter hyperintensity. A 3-year-old male with a history of speech and motor delays was found to have enlarged ventricles, general decreased volume of the cerebral cortex, and hypoplasia of the corpus callosum [Haeusler et al, 1992]. A T2weighted and FLAIR image from a 1year-old 49,XXXXY male showed extensive white matter hyperintensities [Garcia-Cazorla et al, 2004].…”