ESPE Abstracts

Background: Aggrecan (ACAN) deficiency is a cause of autosomal dominant short stature with bone age advancement and premature growth cessation. There is limited data on the use of growth hormone (GH) treatment and aromatase inhibitor (AI) in this condition and their effect on adult height.

Objective: To describe the improvement in predicted adult height (PAH), height SDS, and near adult height (NAH) in a 14-year-old boy with ACAN deficiency treated with GH for 8 years and AI for 3 years.

Case Report: Growth hormone treatment was started at 6 years and 1-month in a pre-pubertal boy at a dose of 0.3 mg/kg/week. His bone age (BA) was 8 years resulting in a PAH of 142 cm (Ht SDS -5.1). His height was 102.2 cm (Ht SDS -2.67), weight 17.1 kg (Wt SDS -1.6), BMI 16.3 kg/m2 (BMI SDS 0.66), and growth velocity 4.8 cm/year (9%) at initiation. His untreated mother with ACAN deficiency has height of 147 cm (Ht SDS -2.4) and his unaffected father’s height is 170 cm (Ht SDS -0.88). His midparental target height is 165 cm. His untreated maternal grandfather with ACAN deficiency stands 147 cm (Ht SDS -4.4). After 1 year of GH treatment, height was 111 cm (Ht SDS -2.15), weight 21.6 kg (Wt SDS -0.5), BMI 17.6 kg/m2 (BMI SDS -1.1), and growth velocity 8.4 cm/year (>97%). After 5 ½ years of growth hormone treatment, his height SDS improved from -2.67 to -1.19, weight SDS -0.18, and BMI SDS 0.73. BA was 13 ½ years at a chronologic age of 11 years 7 months. AI (Anastrozole) 1 mg daily was added to GH when he entered central puberty at 11 ½ years. After 3 years of the combined GH and AI therapies, at 14 yrs and 8 months, his height is 154.5 cm (Ht SDS -1.66), weight 60.8 kg (Wt SDS 0.55), BA14-15 years, with growth velocity of 2.1 cm/year.

Conclusion: After 8 years of GH treatment and AI for 3 years, there is a height gain of 1 SD and 12 cm improvement above the pre-treatment PAH. The use of GH and AI in this patient led to improvement in near adult height (154.5 cm) compared to the pre-treatment PAH (142 cm). No significant side effects were observed in this patient. More data are needed on the effect of growth hormone and AI in boys with ACAN deficiency.