COMPARATIVE STUDY
ENGLISH ABSTRACT
JOURNAL ARTICLE
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[Spontaneous growth of girls with Turner's syndrome until 6 years of age].

BACKGROUND: Turner's syndrome (TS) is one of the most common genetically conditioned diseases, its incidence amounting to one per 1900-2500 live female births. A marked short stature is a prime symptom of the disease, the average adult body height of untreated women being by 23 cm lower than that of healthy ones. According to Ranke, developmental disorders appear as early as in foetal life and are responsible for body length and mass deficits at birth in relation to gestational age.

OBJECTIVES: To revise present views regarding the course of physical development of girls with TS, especially at infancy and early childhood.

MATERIAL AND METHODS: A total of 474 female newborns with Turner's syndrome were studied, the pregnancies, mostly second ones, not less than 38 weeks. Turner's syndrome was confirmed by chromosome analysis. Body mass at birth (BM) was related to the norms for gestational age (GA) designed by Usher and McLean.

RESULTS: Growth disorders take place in TS since infancy, the growth rates in the age period of 2-3 years being similar to those observed in healthy population. After that period, however, growth rate in Turner girls steadily decreases as shown in percentile norms for TS. At the age of 6 years, the average difference in body height between Turner and healthy girls exceeds 1/3 of the final growth deficit noted in untreated adult women with TS.

CONCLUSION: We have demonstrated that body mass and length of Turner newborns were normal in relation to gestational age. Only in about 5% of newborns a simultaneous length and weight deficit exceeded -2 SD, and that deficit was attributed to intrauterine growth retardation (IUGR). In clinical practice, newborns without documented decrease in foetal growth rate, but having a pronounced body length deficit, are diagnosed as IUGR-afflicted. Since simultaneous body length and mass deficits were rare in our newborns, IUGR was regarded as unlikely in bringing about growth deficit in Turner girls. In about 1/5 of Turner newborns a weight or length deficit was found (19 and 1%, respectively). Since either of those deficits evidences intrauterine dystrophy (small for gestational age, SGA), the latter one should be considered much more frequent in TS than in the general population. Therefore, SGA appears to be one of the symptoms of TS and should thus be taken into account when explaining body mass and/or length deficit in female newborns. Growth disorders in foetuses with chromosomal aberrations typical of TS are, in all probability, as frequent as in those with normal both X-chromosomes.

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