ESPE Abstracts

Objectives: Hypercalcaemia, hypothyroidism, and early puberty are the most common endocrine disorders defined in Williams-Beuren syndrome (WBS). Here, endocrine evaluation and long-term follow-up of seven patients with WBS are given.

Methods: Data were obtained from patient’s medical records. WBS was diagnosed by demonstration of the deletion on chromosome 7 by using FISH method (7q11.23). OGTT were performed in four patients. Thyroid ultrasonography was performed. LT₄ was started in patients with hypothyroidism and WBS.

Results: Six patients were male. Age at diagnosis WBS was 1.04 (3.47) a decimal-year. They all had mild hypercalcemia (9.9–11.1 mg/dl). Three of them had overt hypothyroidism while subclinical hypothyroidism were detected in three patients ((0.66 (5.77) decimal-year). At the diagnosis, serum TSH was 10.5±6.3 μIU/ml and fT₄ was 0.9±0.1 ng/dl. LT₄ was started at 5±3.9 μg/kg. Four patients had thyroid hypoplasia and thyroid agenesis had one. GH deficiency was determined in one patient. Height S.D.s was −3.26 at the age of 34/12 decimal-years when hGH was initiated and increased to −1.45 at the age of 6.08 decimal-years. Age of onset of puberty in three patients was early according to healthy peer. IGT was detected in three pubertal patients and metformin was started. Follow-up duration was 5.7±2.1 years. Mean GV was 12.9±7.2 cm and 7.6±2 cm at the end of 1st and 2nd years of the therapy respectively. At the last visit, LT₄ dose was 2.9±1 μg/kg. All patients had neurodevelopment retardation and were continuing to special education.

Conclusion: Untreated hypothyroidism also causes mental and motor retardation particularly in infancy period in WBS. IGT could be detected in patients with WBS even if adolescence.