Macro-orchidism is a useful diagnostic finding in Fragile-X syndrome. Hammond et al. [1997] recently reported on a mentally retarded, 17-year-old African-American male with deletion of the FMR 1 gene arising from a full mutation. His mother has a full mutation with 700-900 CGG repeats. The patient is reported as having the ''typical fragile X phenotype.'' I agree that the patient has some fra(X) findings, but he does not have macro-orchidism.
The authors report that ''his testes measured 4.0 cm ร 2.5 cm with an estimated volume of 28.4 ml (>95th centile for age).'' Although the authors did not report the method used to establish the volume, with the values of 4 ร 2.5 cm, the estimated testicular volume would be approximately 15 ml using the orchidometer of Prader [1966], 13 ml using Hansen's mathematical formula (testicular volume โซืกโฌ length ร width 2 ร 0.52) [Cantu ยดet al., 1976;Zavala and Lacassie, 1985], and below average using the values obtained either by Prader, or Laron and Zilka in normal populations, available in Smith's Recognizable Patterns of Human Malformation [Jones, 1997]. Hence, based on the values provided, this patient does not have macroorchidism.
In this time of growth in the field of molecular genetics [McKusick, 1992], the importance of accurate clinical evaluation has been devaluated. However, it is still of primary importance in developing countries. With today's climate of financial constraints imposed by managed care systems, a good clinical evaluation is of primary importance in cost-effective diagnosis.