Endocrine manifestations in children with Williams–Beuren syndrome. (8th January 2018)

• Record Type: Journal Article
• Authors: Levy‐Shraga, Yael; Gothelf, Doron; Pinchevski‐Kadir, Shiran; Katz, Uriel; Modan‐Moses, Dalit
• Is Part Of: Acta pædiatrica. Volume 107:Number 4(2018)
• Page Start: 678
• Page End: 684
• Publication Date: 2018-01-08
• Subjects: Growth -- Hypercalcaemia -- Precocious puberty -- Thyroid -- Williams–Beuren syndrome; Pediatrics -- Periodicals; Pediatrics; 618.92
• DOI: 10.1111/apa.14198
• Languages: English
• ISSNs: 0803-5253

Abstract

Abstract: 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.