ESPE Abstracts

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (disproportional short stature with shorter extremities, facial dysostosis, brachydactyly with cone shaped epiphyses, scoliosisor kyphosis) and variable degree of hormone resistance. Patients with ACRDYS 1 present more often with normal intelligence, less facial dysostosis and hormonal resistance to multiple hormones, whereas patients with ACRDYS2 present more often facial dysostosis, neurological abnormalities and intellectual diabilities and no hormonal resistance (3) We report a patient, who has clinical features of acrodysostosis type 2 and a molecularly confirmed novel pathogenic variant in the PDE4D gene who received GH therapy because of falling growth rate and mildly low GH levels. GH therapy was initiated at 0.2 mg/kg/week – a mid-range dose for children with GHD. Three months later, her serum IGF-1 levels rose from 164 to 312ng/ml. After 1.5 years of treatment her growth velocity increased from 2.3 cm /year to 6 cm /year. Not any adverse reactions have been observed so far.