ESPE Abstracts

Background: Pre- and postnatal growth retardation of unknown pathogenesis is a common clinical feature in patients with Williams-Beuren syndrome (WBS). However, growth hormone deficiency (GHD) has not been considered a major cause of growth retardation.

Case reports: We report two female patients with confirmed WBS who had defective GH secretion in response to two provocative tests and low IGF-I level and their growth response to GH therapy for 9 years. The first patient was investigated at the age of 7 years with HtSDS =−3, BMISDS =0.8 and bone age =7 years, Peak GH response to 2 provocative tests (Clonidine and glucagon) was 6.5 and 5.9 ng/dl respectively, IGFSDS =−2.2. She was started on HGH 0.05 mg/kg daily for 9 years with a significant increase in IGF-I. She attained normal pubertal development and pubertal growth spurt. Her final adult height =155 cm (HtSDS=−2) and weight =52 kg. The second female patient had undergone surgical repair for supra-valvular aortic stenosis at 6 months of age. She was investigated at the age of 5 years because of her HtSDS =−2.8, BMI =10 kg/m² and IGF-ISDS =−2.7 and bone age =5 years. She underwent two provocative tests which showed subnormal peak GH response (5.6 and 7 ng/dl). She was started on GH 0.05 mg/kg daily with good increment in IGF-I. At the age of 11 years she started her pubertal development and at the age of 12 years her height =135.5 cm (HtSDS =−2) and BMI =12 kg/m² and her bone age =12 years.

Discussion: The growth pattern of children with WBS is characterized by prenatal growth deficiency, failure to thrive in infancy (70%), poor weight gain and linear growth in the first four years; a rate of linear growth that is 75% of normal in childhood; and a brief pubertal growth spurt. The mean adult height is below the third centile. These two patients with defective GH-IGF-I axis showed a good response to long-term GH therapy with a stature gain =1 S.D. and normal pubertal growth spurt. The pathogenesis of GHD in our patient is unclear.

Conclusion: GH deficiency might contribute to the growth failure in some patients with WBS and in such cases, HGH therapy will most likely improve final height.