Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant.
The fragile-X syndrome, an X-linked form of mental retardation, is estimated to affect one in every 1,000 to 2,000 live-born male infants. Most commonly, fragile-X syndrome has been detected only after patients clearly demonstrate developmental delay, and frequently detection occurs only if the family history is consistent with X-linked mental retardation. Macro-orchidism is a finding commonly associated with the fragile-X syndrome. It has been suggested that the sparsity of reports of macro-orchidism among prepubertal boys with the fragile-X syndrome might be due to lack of careful measurement of the tests rather than to initiation of the enlargement at puberty. A 5-month-old infant with fragile-X syndrome, ascertained through testicular enlargement noted by actual measurement of testicular size as part of his physical examination, is reported.
D000328:Adult; D002657:Child Development; D003581:Cytodiagnosis; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D013737:Testis / Q000473:pathology*