We report here two cases of men, aged 46 and 23 years, with refractory chronic venous leg ulcers in association with sex chromosome aberrations: one with a 47,XXY/48,XXXY karyotype (Klinefelter syndrome) and the other with a 47,XYY karyotype (Jacob syndrome). In both patients, the occurrence of leg ulcers was the reason for seeking medical care; their medical history was other-wise unremarkable...

BACKGROUND The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. CASE PRESEN...

Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, increased secretion of follicle-stimulating hormone, ...

Risperidone, as a potent antagonist of the serotonin 5-HT2 receptors, as well as of the dopamine D2 receptors, is presumed to have a major antipsychotic effect. Treatment of patients with acute psychosis most often includes the use of long-acting injectable risperidone. A number of placebo-controlled studies have shown that risperidone solution is well tolerated and that it has many advantages,...

Klinefelter (van Rijn et al., 2006a). Difficulties in social adaptation and abnormal brain asymmetries suggest that a genetic mechanism (involving genes on theX chromosome)might affect the development of social cognition in XXY men. Language and emotion are important aspects of social cognition. Reduced or abnormal lateralization of language has been found in Klinefelter's syndrome (Geschwind,1...

INTRODUCTION Several studies have shown an association between homicide and sexual chromosomal abnormalities, but data are still lacking regarding Klinefelter syndrome. METHODS We retrospectively reviewed two cases of homicide perpetrators who were both diagnosed with Klinefelter syndrome on the basis of a karyotype analysis. A neurocognitive assessment was also performed (MMSE, Frontal Asses...

CASE REPORT A 34- year- old man affected by Klinefelter syndrome, with loss of vision in his left eye, ocular hypertension with increased cupping in both eyes, and optic disc pit with serous macular detachment in the left eye. Optical coherence tomography showed a macular detachment with a double-layer detachment, consisting of both an inner layer separation and an outer layer detachment. The o...