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Macroorchidism (Enlarged Testicles)
Macroorchidism (enlarged testicles) is a common feature in mentally retarded males who do not have fragile X syndrome. However, macroorchidism is particularly common in males with fragile X
syndrome.
Some of the males with fragile X will have macroorchidism before puberty. After puberty, nearly all will have testicles that are at least 2 times the volume of typical males.
For further reading: (These are research articles written to communicate with other professionals.)
- Butler, M. G., G. A. Allen, et al. (1991). "Anthropometric comparison of mentally retarded males with and without the fragile X syndrome." American Journal of Medical Genetics 38(2-3): 260-8.
- Butler, M. G., A. Brunschwig, et al. (1992). "Standards for selected anthropometric measurements in males with the fragile X syndrome." Pediatrics 89(6 Pt 1): 1059-62.
- Butler, M. G., R. Pratesi, et al. (1993). "Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome." Clinical Genetics 44(3): 129-38.
- Lachiewicz, A. M. and D. V. Dawson (1994). "Do young boys with fragile X syndrome have macroorchidism?" Pediatrics 93(6 Pt 1): 992-5.
- Slegtenhorst-Eegdeman, K. E., D. G. de Rooij, et al. (1998). "Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development." Endocrinology 139(1): 156-162.
- Vatta, S., I. Cigui, et al. (1998). "Fragile X syndrome, mental retardation and macroorchidism [letter]." Clinical Genetics 54(4): 366-367.
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