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To correlate the origin of the retained X in Turner syndrome with phenotype, pre-treatment height and response to recombinant human growth hormone (rhGH) therapy, systematic clinical assessment and molecular studies were carried out in 33 Greek children with Turner syndrome and their parents including 18 children with 45,X and 15 with X-mosaicism. Microsatellite markers on X chromosomes (DXS101 and DXS337) revealed that the intact X was paternal (Xp) in 15/30 and maternal (Xm) in 15/30 children, while 3/33 families were non-informative. No significant relationship was found between parental origin of the retained X and birth weight/length/gestational age, blepharoptosis, pterygium colli, webbed neck, low hairline, abnormal ears, lymphoedema, short 4th metacarpal, shield chest, widely spaced nipples, cubitus valgus, pigmented naevi, streak gonads, and cardiovascular/renal anomalies. With regard to the children's pre-treatment height, there was a significant correlation with maternal height and target height in both Xm and Xp groups. No differences were found between Xm and Xp groups and the improvement of growth velocity (GV) during the first and second year of rhGH administration, while for both groups GV significantly improved with rhGH by the end of the first and the second year. To our knowledge, this is the first attempt to correlate the parental origin of Turner syndrome with the response to rhGH therapy.

The potential genotoxicity of nitrates and nitrites-contaminants of drinking water that have been implicated in carcinogenesis-was investigated in this study. Sister chromatid exchanges and frequency of chromatid/chromosome aberrations were studied in peripheral blood lymphocytes of 70 children who were 12-15 y of age. These children were permanent residents in geographical areas of Greece, where elevated concentrations of nitrates (i.e., 55.70-87.98 mg/l) existed in drinking water. The control group comprised 20 healthy children who resided in areas with very low nitrate concentrations (i.e., 0.7 mg/l). A significant increase in the mean number of chromatid/chromosome breaks was observed in children exposed to nitrate concentrations that exceeded 70.5 mg/l (p < .01), but there was no significant increase in the mean number of sister chromatid exchanges per cell. The results indicate that chronic administration of elevated concentrations of nitrate in drinking water has the capability of inducing cytogenetic effects.