Ann Pediatr Endocrinol Metab.  2016 Mar;21(1):15-20. 10.6065/apem.2016.21.1.15.

Endocrine dysfunctions in children with Williams-Beuren syndrome

• Kim YM
• Cho JH
• Kang E
• Kim GH
• Seo EJ
• Lee BH
• Choi JH
• Yoo HW

• KMID: 2161301
• DOI: http://doi.org/10.6065/apem.2016.21.1.15

Abstract

PURPOSE
Williams-Beuren syndrome (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global cognitive impairment, dysmorphic facial features, and supravalvular aortic stenosis. Endocrine dysfunctions have been reported in patients with WBS. This study was performed to investigate the frequency, clinical features, and outcomes of endocrine dysfunctions in children with WBS.
METHODS
One hundred two patients were included. The diagnosis was confirmed by chromosome analysis and fluorescent in situ hybridization. Medical charts were reviewed retrospectively to analyze endocrine dysfunctions such as short stature, precocious puberty, thyroid dysfunctions, and hypocalcemia.
RESULTS
The age at diagnosis was 3.7±4.4 years (one month to 19 years). Height- and weight-standard deviation score (SDS) were -1.1±1.1 and -1.4±1.4 at presentation, respectively. Short stature was found in 26 patients (28.3%) among those older than 2 years. Body mass index-SDS increased as the patients grew older (P<0.001). Two males and one female (2.9%) were diagnosed with central precocious puberty. Nine patients (8.8%) were diagnosed with primary hypothyroidism at age 4.0±4.3 years (one month to 12.1 years); their serum thyroid stimulating hormone and free T4 levels were 15.2±5.4 µU/mL and 1.2±0.2 ng/dL, respectively. Hypercalcemia was observed in 12 out of 55 patients under age 3 (22%) at the age of 14.3±6.6 months (7 to 28 months) with a mean serum calcium level of 13.1±2.1 mg/dL.
CONCLUSION
Endocrine dysfunctions are not uncommon causes of morbidity in patients with WBS. The severity and outcomes of their endocrine manifestations were heterogeneous. Long-term follow-up is needed to predict the prognosis of endocrine features.

Keyword

Hypercalcemia; Precocious puberty; Short stature; Hypothyroidism; Williams-Beuren syndrome

MeSH Terms

Aortic Stenosis, Supravalvular
Calcium
Child*
Diagnosis
Female
Follow-Up Studies
Humans
Hypercalcemia
Hypocalcemia
Hypothyroidism
In Situ Hybridization, Fluorescence
Male
Prognosis
Puberty, Precocious
Retrospective Studies
Thyroid Gland
Thyrotropin
Williams Syndrome*
Calcium
Thyrotropin

Figure

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  Fig. 1 Fluorescent in situ hybridization showing deletion of the ELN gene at chromosome 7q11.23.

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