Libro blanco de las ACES Pediátricas 2024

Endocrinología Pediátrica. Anexos ❚ 173 37 3 Congenital central nervous system malformations: pathophysiology, clinical implications • Septo-optic dysplasia spectrum • Holoprosencephaly • Hypoplastic anterior pituitary, missing stalk and ectopic posterior pituitary • Empty sella syndrome • Rathke cleft cyst • Hamartoma C 4 Anterior and posterior pituitary hormones: physiology B 5 Pituitary hormone deficiencies • Isolated or multiple hormone deficiencies • Genetic, congenital, acquired (trauma, infiltration, inflammation, tumours, surgery, radiotherapy, vascular) C 6 Pituitary masses 16 • Craniopharyngioma, other benign and malignant lesions • Red flags for investigating C 7 Growth hormone deficiency: congenital, secondary/acquired C 8 GH excess/ pituitary gigantism D 9 Prolactin deficiency: acquired, genetic defects ( POU1F1, PROP1, other ) D 10 Prolactin adenomas including: 17 • Prolactin excess o Isolated prolactinoma, MEN1 o Other causes: pituitary stalk compression, medications • Non-functioning adenomas/ incidentalomas C 11 Gonadotrophin deficiency/ hypogonadotrophic hypogonadism: 10 • Genetic (isolated or with other pituitary hormone deficiency), acquired • Gonadotrophin releasing hormone (GnRH) deficiency C 12 Adrenocorticotrophin deficiency/ secondary glucocorticoid deficiency: • Genetic (isolated or with other pituitary hormone deficiency), acquired C 13 Adrenocorticotrophin excess/ Cushing disease 18, 19 D 14 Thyrotropin deficiency: • Genetic (isolated or with other pituitary hormone deficiency), acquired • Thyrotrophin releasing hormone (TRH) deficiency C 15 Vasopressin/antidiuretic hormone (ADH) deficiency/ central diabetes insipidus: genetic, congenital intracranial anatomic defects, acquired C 16 Syndrome of inappropriate ADH secretion (SIADH) vs cerebral salt wasting 20 C