ESPE Abstracts

Introduction: Pubertal onset is signaled by thelarche (in girls) and gonadarche (in boys) and indicates the beginning of the hypothalamic-pituitary-gonadal axis activity. Thus, the onset of pubic hair development usually coincides with adrenarche. Girls worldwide are experiencing earlier puberty, but it is uncertain if this trend affects boys, or if it applies to children with type 1 diabetes (T1D).Aim: The aim of this s...

Background: GNAS (Guanine Nucleotide-Binding Protein, Alpha Stimulating) is an imprinted gene that encodes the alpha subunit of the stimulatory G protein (Gsa), which mediates the signaling of various G protein-coupled receptors. Inactivating genetic and epigenetic changes in GNAS, leading to Gsa deficiency, are associated with different subtypes of pseudohypoparathyroidism, which may include severe, early-onset obesity ...