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Endocrine manifestations in children with Williams-Beuren syndrome
Yael Levy-Shraga1,2, Doron Gothelf2,3,4, Shiran Pinchevski-Kadir2
1Paediatric Endocrinology and Diabetes Unit, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Insights
Children with Williams-Beuren syndrome (WBS) experience growth restriction and often do not reach their genetic potential. Screening for precocious puberty, hypercalcaemia, and thyroid issues is crucial in WBS patients.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Growth Disorders
Background:
- Williams-Beuren syndrome (WBS) is a genetic disorder associated with various endocrine abnormalities.
- Commonly observed issues include growth retardation, precocious puberty, hypercalcaemia, and thyroid dysfunction.
Purpose of the Study:
- To characterize endocrine abnormalities in a national cohort of children diagnosed with Williams-Beuren syndrome.
- To investigate growth patterns and associated factors in WBS patients.
Main Methods:
- Retrospective study of a national cohort of WBS individuals in Israel (n=34) from 2010 to 2016.
- Analysis of height, midparental height, insulin-like growth factor 1 (IGF-1) levels, and endocrine assessments.
Main Results:
- WBS patients exhibited significant growth restriction, with 41% below the 3rd percentile for height.
- Low IGF-1 SDS correlated with reduced height SDS; growth hormone treatment improved height velocity in two cases.
- Prevalent endocrine issues included mild hypercalcaemia (23.5%), precocious puberty (14.7%), and thyroid abnormalities (14.7%).
Conclusions:
- WBS is characterized by a distinct growth pattern of early-onset growth restriction, leading to low-normal adult height.
- Routine screening and timely management of precocious puberty, hypercalcaemia, and thyroid disorders are essential for WBS patients.
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 ± 0.85SD (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.
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