High resolution ultrasound of macro‐orchidism in mental retardation

Abstract

Asymptomatic testicular enlargement is common in mentally retarded males. This enlargement includes males with non-specific forms of mental retardation as well as a subgroup of males who have a chromosomally recognizable feature involving the X-chromosome ("fragile X" chromosome). We examined the testes of a group of 25 mentally retarded males with macro-orchidism including both fragile X and non-fragile X patients. Apart from large size, the testes scanned were all normal in appearance. In particular, there was no evidence for neoplasia. There were no distinguishing features between the fragile X and the non-fragile X groups.