Background: Williams-Beuren syndrome (WBS) is characterized dysmorphic facies, cardiovascular disease and typical cognitive profile. Endocrine abnormalities associated with the syndrome are growth retardation, precocious pubery, hypercalcemia and thyroid disorders. We aimed to characterize growth patterns and endocrine anomalies in these patients.
Methods: Retrospective study comprising 34 patients (16 males) followed at a national clinic between 2010-2016. Anthropometric and laboratory measurements were extracted from the charts.
Results: Age at diagnosis was 1.4±1.0 years and age at last evaluation 9.4±6.3 years. Mean height-SDS was negative at all ages. Height-SDS at last visit was correlated to the midparental height-SDS (r=0.46 p=0.0073). Yet, participants did not reach their target height, with a difference of 1.40±0.85 SD (p<0.0001). Mean IGF1-SDS was low (-0.61±1.64) and was correlated with the individual mean height-SDS (r=0.63 p=0.038). No correlation was found between anthropometric measurements and cardiovascular disease. Two participants were diagnosed with growth hormone (GH) deficiency. Initiation of GH treatment improved their height velocity. Five girls (28% of the girls) had precocious puberty, eight participants (23.5%) had mild hypercalcemia and four patients (12%) had thyroid abnormalities.
Conclusions: Individuals with WBS have a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low-normal range. GH axis should be evaluated in cases of severe growth restriction. Precocious puberty and thyroid abnormalities are common.
Keywords: Williams syndrome, growth, precocious puberty, thyroid
