Libro blanco de las ACES Pediátricas 2024

Endocrinología Pediátrica. Anexos ❚ 171 35 7 Other syndromes with tall stature • Ehlers Danlos type IV • 47,XYY • Aromatase deficiency, oestrogen receptor mutation D F. PUBERTY 1 Tests for diagnosis and management of puberty disorders • Biochemical, radiological and genetic • Utility, interpretation C 2 Minipuberty C 3 Pathological vs non-pathological developmental variations • Premature adrenarche • Premature thelarche and thelarche variant • Isolated premature or delayed menarche • Gynaecomastia • Hirsutism C 4 Psychosexual aspects of pubertal maturation C 5 Precocious puberty 9 • Definition • Classification • Central: idiopathic vs pathological and isolated vs familial causes • Peripheral including McCune Albright syndrome • Clinical implications and management C 6 Delayed puberty 10 • Definition • Constitutional vs functional vs pathological • Hypogonadism: hypogonadotrophic vs hypergonadotrophic • Clinical implications and management C 7 Isolated hypogonadotrophic hypogonadism including Kallmann syndrome • Genetics, growth, puberty, body composition and comorbidities • Transition to adult care C 8 Pubertal issues in patients with • post-oncological problems 11,12,13 • syndromes C D 9 Medically assisted reproduction: current status and counselling D 10 Hormonal treatment for gender dysphoria 14 D