Libro blanco de las ACES Pediátricas 2024

Endocrinología Pediátrica. Anexos ❚ 169 33 9 Turner Syndrome: 4 • Range of chromosomal abnormalities, growth and puberty • Other problems: fertility, metabolic syndrome, bone health, auto- immunity, cardiac, psychosocial health • Growth hormone and sex steroid replacement treatments • Transition to adult care C 10 Disproportionate short stature • Skeletal dysplasias • SHOX haploinsufficiency • Post spinal irradiation • Spinal abnormalities, kypho-scoliosis • Mucopolysaccharidosis C 11 Noonan syndrome • Genetics, growth and puberty • Other problems: metabolic syndrome, bone health, malignancy, potential adverse effects of growth hormone • Other RASopathies C D 12 Prader Willi syndrome • Genetics, growth, body composition, puberty, type 2 diabetes, developmental delay, respiratory surveillance • Potential adverse effects of growth hormone • Transition to adult care C 13 Other short stature syndromes • Aarskog syndrome • CHARGE association • Down's syndrome • Kabuki syndrome • Robinow syndrome • Rubinstein-Taybi syndrome • Seckel syndrome D 14 Small for gestational age (SGA) with failure of catch-up growth 5 C 15 Silver Russell syndrome: 6 • Genetics, growth and puberty • Other problems: hypoglycemia, nutrition C