Endocrine Abstracts

Introduction: Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder with distinctive facial appearance, cardiovascular anomalies, impaired somatic growth and infantile hypercalcemia. Growth retardation is a common clinical feature in patients with Williams-Beuren syndrome. We report a boy with Williams-Beuren syndrome, who was found to have growth hormone deficiency and is responding well to growth hormone therapy

Observation : The patient is a 20 years old boy with consanguineous parents, born at term but we had no idea about his birth weight. He was referred to our hospital for hyperglycemia revealing diabetes. Clinical examination revealed a growth retardation, his length was 88 cm (below the 4rd percentile; SDS) and weight was 18 kg (3rd percentile), he had typical facial features including low nasal bridge, long philtrum, prominent lips with open mouth, peri-orbital fullness. On cardiological evaluation, ECG and cardiac echography revealed a normal cardiac anatomy and function without evidence of supravalvular aortic stenosis or peripheral pulmonary artery stenosis. Calcium levels were normal. Endocrine screening yielded a low IGF-I level (19.26 ng/ml) and a high TSH level of 500 mUI/l. Prolactin levels were elevated 118 ng/ml. Cortisol levels were normal. CT of the brain revealed a pituitary hypertrophy without clearly detectable circumscribed adenoma. Bone age according to Greulich and Pyle was of 1 year 6 months Treatment with human growth hormone (hGH) was started to which our patient responded well. Now, at the age of 22 years, his height is 106 cm (he gained 18 cm) but his weight is still 19 kg. Bone age increased and TSH levels are normal under treatment (levothyroxine 75 mg).

Conclusion : It is recommended to evaluate growth hormone IGF-I axis or at least screening by IGF-I measurements in all patients with this syndrome and short stature. GH deficiency might contribute to growth failure in patients with WBS. hGH therapy shows good response in these cases