ESPE2021 ESPE Yearbook Sessions Year of Paediatric Endocrinology 1 (5 abstracts)
Growth and Growth Factors
Stefano Cianfarani 1,2,3 , Elena Inzaghi 2 , Valentina Pampanini 2 & Danilo Fintini 2
1Tor Vergata University, Rome, Italy.;2’Bambino Gesù’ Children’s Hospital, Rome, Italy.;3Karolinska Institutet, Stockholm, Sweden
Long-term safety of rhGH therapy in childhood has been object of intense investigation in the last decade. Two recent observational studies have focused on the risk of cardiovascular diseases in young adults treated with rhGH during childhood. After subdividing the large cohorts of patients in different risk groups they found that both mortality and morbidity from cardiovascular diseases were higher than the general population in the low risk group including patients with isolated GH deficiency, idiopathic short stature and small for gestational age.
Genetic control of height has been widely explored using genome-wide association studies (GWAS). Although familial short stature (FSS) is the most common type of short stature, its genetic profile remains largely unknown. Two recent studies have highlighted the genetics underlying FSS. Ten novel genetic single nucleotide polymorphisms (SNPs) and ten pathogenic variants in collagen genes (COL2A1, COL11A1, and COL11A2) were identified in children diagnosed as having FSS.
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