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Endocrine manifestations in children with Williams–Beuren syndrome
Author(s) -
LevyShraga Yael,
Gothelf Doron,
PinchevskiKadir Shiran,
Katz Uriel,
ModanMoses Dalit
Publication year - 2018
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.14198
Subject(s) - medicine , short stature , cohort , endocrine system , pediatrics , bone age , percentile , thyroid , precocious puberty , hypercalcaemia , tall stature , growth hormone deficiency , congenital hypothyroidism , endocrinology , hormone , growth hormone , statistics , mathematics , calcium
Aim Endocrine abnormalities in Williams–Beuren syndrome ( WBS ) include growth retardation, precocious puberty, hypercalcaemia and thyroid disorders. We aimed to characterise these abnormalities in a national cohort of children with WBS . Methods A retrospective study comprising a national cohort of individuals with WBS in Israel (16 males, 18 females) followed between 2010 and 2016. Results The age at diagnosis of WBS was 1.4 ± 1.0 years. Height standard deviation score ( SDS ) at last visit was correlated with the midparental height SDS (r = 0.46 p = 0.007). Yet, participants did not reach their midparental height, with a difference of 1.40 ± 0.85 SD (p < 0.001). Short stature below the 3rd percentile was found in 14 participants (41%). Mean insulin‐like growth factor 1 SDS was low (−0.61 ± 1.64) and was correlated with the mean height SDS (r = 0.63 p = 0.038). Two participants were diagnosed with growth hormone deficiency, and initiation of growth hormone treatment improved their height velocity. A total of eight participants (23.5%) had mild hypercalcaemia, five girls (14.7%) had precocious puberty and five participants (14.7%) had thyroid abnormalities. Conclusion Individuals with WBS had a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low‐normal range. Precocious puberty, hypercalcaemia and thyroid abnormalities should be screened for and treated as needed.