Partial fra(X) phenotype with megalotestes in fra (X)-negative patients with acquired lesions of the central nervous system.
We describe 3 men with acquired lesions of the central nervous system (one male with tumor of the third ventricle, two males with peri- or postnatal accidents). In all three patients macroorchidism was associated with facial characteristics similar to those found in fra(X) males, but they were fra(X)-negative. The finding of megalotestes associated with a partial fra(X) phenotype in the present patients and, more particularly, the documentation of a hypothalamic tumor in the first patient, suggests that a specific hypothalamic lesion in fra(X) males is responsible for some of their manifestations.
D000293:Adolescent; D000328:Adult; D002493:Central Nervous System Diseases / Q000209:etiology*; D005145:Face / Q000473:pathology; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000209:etiology; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D013737:Testis / Q000473:pathology*