Libro blanco de las ACES Pediátricas 2024

Endocrinología Pediátrica. Anexos ❚ 177 41 K. ADRENAL GLANDS 1 Adrenal anatomy and embryology • Functional zones of the cortex • Feto-placental unit • Fetal adrenal steroidogenesis B 2 Adrenal steroid hormone physiology and biochemistry • Mineralocorticoids, glucocorticoids, androgens and their precursors • Classical and alternative/ backdoor pathways of steroid biosynthesis • Regulation, hypothalamic-pituitary-adrenal axis, negative and positive feedback loops o Secretion, transport, metabolism, diurnal variations and actions • Renin-angiotensin-aldosterone system B 3 Laboratory evaluation of adrenal function: basal levels, stimulation and suppression tests B 4 Cortisol deficiency: primary, secondary and iatrogenic C 5 Primary adrenal insufficiency 35,36 • Acute vs chronic • Acquired: Addison's disease, autoimmune polyglandular syndromes • Inherited metabolic o Adrenoleukodystrophy/Zellweger spectrum disorder o Mitochondrial C D 6 Genetic and biochemical defects in steroidogenesis, phenotype, biochemical profile in blood and urine, evaluation and basic management • Steroidogenic acute regulatory protein (StAR) • Cholesterol P450 side-chain cleavage (scc) • 3β-hydroxysteroid dehydrogenase (3β-HSD) • 21α-hydroxylase (P450c21) • 11 beta-hydroxylase deficiency (P450c11β) • 17α-hydroxylase/ 17,21 lyase (P450c17) • P450 oxidoreductase (POR) C D 7 Congenital adrenal hyperplasia due to 21α-hydroxylase defect 37 • Classical, simple virilising, nonclassical forms • Spectrum of genetic and biochemical defects, genetic counselling • Transition to adult care C 8 Congenital adrenal hypoplasia: genetic defects, phenotype D