Among 243 institutionalized mentally retarded males in Japan, 13 patients (5.3%) with the fra(X)(q27) from nine families were detected. These 13 patients accounted for 8.6% of 152 male inmates with unknown causes of mental retardation in the population. One out of nine pedigrees had an apparently un
Macroorchidism and fragile X in mentally retarded males
✍ Scribed by Karen Brøndum Nielsen; Niels Tommerup; Holger V. Dyggve; Carsten Schou
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 474 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
One hundred and seventy eight males resident in an institution for the mentally retarded were screened clinically for the presence of macroorchidism, using the standard orchidometer. In this way 52 males with a testicular volume of 25 ml and over were found. Of these, 11 had pronounced macroorchidism (above 25 ml). All 52 males were examined cytogenetically for the fragile X. Two patients with pronounced macroorchidism showed this abnormality. Although the other nine patients with pronounced macroorchidism were reexamined with FUdR-addition to blood cultures, no further cases positive for the fragile X were found. Also, the thyroid function as well as the prolactin level in serum were investigated in all 52 males. No significant abnormalities were found. The high incidence of macroorchidism in mentally retarded males is underlined; however, it is suggested that the definition of macroorchidism should take into account several parameters.
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