SCU di Clinica Pediatrica, SS di Endocrinologia, Diabetologia e Altre Malattie del Metabolismo, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
Familial short stature is the second cause of short stature immediately after constitutional delay of growth and puberty. So far, in case of familiarity for short stature, regular growth velocity, bone age compatible with chronological age, the indication has been not to carry out further investigations. The advent of next generation sequencing has revolutionized, among others, the field of short stature, and many children with familial short stature could have a mutated gene that could benefit from growth hormone therapy (i.e. SHOX, IHH, PTPN11...).
key words: Familial short stature, Next generation sequencing, Genetics, SHOX