Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant

R. Carmi, D. L. Meryash, J. Wood, P. S. Gerald

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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 testes 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.

Original languageEnglish
Pages (from-to)883-886
Number of pages4
Issue number5
StatePublished - 1 Dec 1984
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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