Abstract
Light and electron microscopy of fetal testes at 16 and 22 weeks of gestation, following prenatal diagnosis of the Fragile X Syndrome, revealed that the morphogenesis of the macroorchidism begins prior to 16 weeks and is progressive throughout gestation.
Light and electron microscopy of the testis at 16 weeks revealed interstitial edema with increase in interstitial ground substance associated with an increase in hydrophilic glycoprotein granules, scattered collagen fibers and bundles of microfibrils. At 22 weeks, there was progression of these changes with further increase in ground substance, collagen fibers grouped in bundles and a moderate increase in fibroblasts.
The primary mechanism of the macroorchidism appears to be fetal interstitial cell production of an abnormal ground substance comprised of glycoprotein granules which are hydrophilic and result in interstitial edema by at least 16 weeks. Thus, a primary connective tissue defect may be responsible for the macroorchidism as well as some of the other features of the Fragile X Syndrome.
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Shapiro, L., Wilmot, P., Omar, R. et al. PRENATAL PATHOGENESIS OF MACROORCHIDISM IN THE FRAGILE X SYNDROME. Pediatr Res 21 (Suppl 4), 230 (1987). https://doi.org/10.1203/00006450-198704010-00383
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DOI: https://doi.org/10.1203/00006450-198704010-00383