Hormonal regulation in children and adults with Williams-Beuren syndrome.

Short stature is found in about 50% of children with Williams-Beuren syndrome (WBS). Disease-specific growth curves for the syndrome showed the presence of a pubertal growth spurt in both sexes. Detailed investigations on the hormonal regulation in patients with WBS have not been performed. We studied plasma gonadotropins, sex steroids, adrenal androgens, and insulin-like growth factors (IGF-I and IGF-II) and their binding protein 3 (IGFBP-3) in a large number of WBS patients from infancy to adulthood (n = 23 females, n = 33 males). In most WBS patients, basal LH and FSH levels were within normal limits for age and pubertal stage. Nevertheless, elevated levels for basal LH and FSH were found in 35 and 44% of girls and 3 and 33% of boys, respectively. Estradiol and testosterone levels were elevated in 9.5 and 15.4% of patients, respectively. Dehydroepiandrosterone sulfate levels were elevated for age and pubertal stage in 30% of the girls and in 39% of the boys. IGF-I was within the reference range in both sexes except for 3 patients who showed slightly decreased levels of IGF-I. In 9 of 43 patients, IGF-II levels were decreased below normal. In contrast, 46% of the IGFBP-3 levels were increased above the reference range. From the 18 patients who underwent GnRH testing, five of six adults showed markedly increased basal and stimulated FSH levels and in most cases also elevated LH levels.(ABSTRACT TRUNCATED AT 250 WORDS)