Partial fra(X) phenotype with megalotestes in fra(X)‐negative patients with acquired lesions of the central nervous system

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Abstract
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) malesis responsible for some of their manifestations.

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