SEMINARIOS Trastornos adrenales


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SEMINARIOS Trastornos adrenales

  1. 1. Trastornos adrenales Sandra Milena Acevedo Rueda MD Residente Medicina Interna UNAB
  2. 2. Introduccion • Peso: 6 a 11 gramos • Irrigacion • Drenaje • Origen embriologico
  3. 3. Ejes • Eje hipotalamo hipofisis adrenal • Eje renina angiotensina aldosterona
  4. 4. Sindrome de Cushing • ACTH Dependiente – Enfermedad de Cushing (m) – Secrecion ectopica de ACTH tumor no pituitario(h) • ACTH Independiente – Adenoma adrenocortical – Carcinoma adrenocortical – Hiperplasia adrenal nodular – Causas raras – Iatrogenico
  5. 5. • Enfermedad de Cushing - 90% micro • MEN – 1 • ACTH-independent macronodular hyperplasia (AIMAH) - Multiples Rp • Mutacion PKA - Primary pigmented nodular adrenal disease (PPNAD) / Carney's complex • Sindrome de McCune-Albright / GNAS-1 (guanine nucleotide binding protein alpha stimulating activity polypeptide 1)
  6. 6. Sindrome de Cushing Body Compartment/System Signs and Symptoms Body fat Weight gain, central obesity, rounded face, fat pad on back of neck ("buffalo hump") Skin Facial plethora, thin and brittle skin, easy bruising, broad and purple stretch marks, acne, hirsutism Bone Osteopenia, osteoporosis (vertebral fractures), decreased linear growth in children Muscle Weakness, proximal myopathy (prominent atrophy of gluteal and upper leg muscles) Cardiovascular system Hypertension, hypokalemia, edema, atherosclerosis Metabolism Glucose intolerance/diabetes, dyslipidemia Reproductive system Decreased libido, in women amenorrhea (due to cortisol-mediated inhibition of gonadotropin release) Central nervous system Irritability, emotional lability, depression, sometimes cognitive defects, in severe cases, paranoid psychosis Blood and immune system Increased susceptibility to infections, increased white blood cell count, eosinopenia, hypercoagulation with increased risk of deep vein thrombosis and pulmonary embolism
  7. 7. Tratamiento Quirurgico Metirapona Ketoconazol
  8. 8. Exceso de mineralocorticoides • Sindrome de Conn – Prevalencia no reconocida, hasta 12% • Hiperaldosteronismo primario – Hiperplasia adrenal micronodular bilateral >>> – Adenoma adrenal unilateral – Carcinoma – Raro (grandes)
  9. 9. Abbreviations: DOC, deoxycorticosterone; ENaC, epithelial sodium channel; GR, glucocorticoid receptor; MR, mineralocorticoid receptor.
  10. 10. Exceso de mineralocorticoides • Hipertension • Hipokalemia (deb.muscular, paralisis) • Alcalosis metabolica (calambres,tetania) • Remodelacion cardiaca • Dano glomerular • Edemas perifericos
  11. 11. Trends Endocrinol Metab 1994; 5:97
  12. 12. Factors that may affect the ARR and thus lead to false-positive or false-negative results J Clin Endocrinol Metab. September 2008, 93(9):3266–3281
  13. 13. Factors that may affect the ARR and thus lead to false-positive or false-negative results J Clin Endocrinol Metab. September 2008, 93(9):3266–3281
  14. 14. Exceso de mineralocorticoides • Cirugia • Espironolactona • Eplerenona • Amiloride
  15. 15. Incidentaloma • MEN-1 (MEN1), MEN-2 (RET), Complejo de Carney (PRKAR1A), McCune-Albright (GNAS1) • Poblacion general 10% • Hasta un 25% tienen actividad • Mas frecuente > metastasis tumor solido
  16. 16. Benign Approximate Prevalence (%) Adrenocortical adenoma Endocrine inactive 60–85 Cortisol-producing 5–10 Aldosterone-producing 2–5 Pheochromocytoma 5–10 Adrenal myelolipoma <1 Adrenal ganglioneuroma <0.1 Adrenal hemangioma <0.1 Adrenal cyst <1 Adrenal hematoma/hemorrhagic infarction <1 Indeterminate Adrenocortical oncocytoma <1 Malignant Adrenocortical carcinoma 2–5 Malignant pheochromocytoma <1 Adrenal neuroblastoma <0.1 Lymphomas (incl. primary adrenal lymphoma) <1 Metastases (most frequent: breast, lung) 15
  17. 17. Incidentaloma • DOS PREGUNTAS – Actividad ? – Malignidad ? >1 cm
  18. 18. Diagnosis Associated Features Autoimmune polyglandular syndrome 1 (APS1) Hypoparathyroidism, chronic mucocutaneous candidiasis, other autoimmune disorders, rarely lymphomas Autoimmune polyglandular syndrome 2 (APS2) Hypothyroidism, hyperthyroidism, premature ovarian failure, vitiligo, type 1 diabetes mellitus, pernicious anemia Isolated autoimmune adrenalitis Congenital adrenal hyperplasia (CAH) See Table 342-10 (see also Chap. 349) Congenital lipoid adrenal hyperplasia (CLAH) 46,XY DSD, gonadal failure (see also Chap. 349) Adrenal hypoplasia congenita (AHC) 46,XY DSD, gonadal failure (see also Chap. 349) Adrenoleukodystrophy (ALD), adrenomyeloneuropathy (AMN) Demyelination of central nervous system (ALD) or spinal cord and peripheral nerves (AMN) Familial glucocorticoid deficiency - FGD1 - FGD2 - FGD3 Triple A syndrome ACTH insensitivity syndromes due to mutations in the ACTH receptor MC2R and its accessory protein MRAP tall stature Alacrima, achalasia, neurologic impairment Smith-Lemli-Opitz-Syndrome Cholesterol synthesis disorder associated with mental retardation, craniofacial malformations, growth failure Kearns-Sayre syndrome Progressive external ophthalmoplegia, pigmentary retinal degeneration, cardiac conduction defects, gonadal failure, hypoparathyroidism, type 1 diabetes IMAGe syndrome Intrauterine growth retardation, metaphyseal dysplasia, genital anomalies Adrenal infections Tuberculosis, HIV, CMV, cryptococcosis, histoplasmosis, coccidioidomycosis Adrenal infiltration Metastases, lymphomas, sarcoidosis, amyloidosis, hemochromatosis Adrenal hemorrhage Meningococcal sepsis (Waterhouse-Friderichsen syndrome), primary antiphospholipid syndrome Drug-induced Mitotane, aminoglutethimide, arbiraterone, trilostane, etomidate, ketoconazole, suramin, RU486 Bilateral adrenalectomy E.g., in the management of Cushing's or after bilateral nephrectomy
  19. 19. Hiperplasia adrenal congenita
  20. 20. Variant Gene Impact on Steroid Synthesis Diagnostic Marker Steroids in Serum (and Urine) 21-Hydroxylase deficiency (21OHD) CYP21A2 Glucocorticoid deficiency, mineralocorticoid deficiency, adrenal androgen excess 17-Hydroxyprogesterone, 21- deoxycortisol (pregnanetriol, 17-hydroxypregnanolone, pregnanetriolone) 11-Hydroxylase deficiency (11OHD) CYP11B1 Glucocorticoid deficiency, mineralocorticoid excess, adrenal androgen excess 11-Deoxycortisol, 11- deoxycorticosterone (tetrahydro-11-deoxycortisol, tetrahydro-11- deoxycorticosterone) 17-Hydroxylase deficiency (17OHD) CYP17A1 (Glucocorticoid deficiency), mineralocorticoid excess, androgen deficiency 11-Deoxycorticosterone, corticosterone, pregnenolone, progesterone (tetrahydro-11- deoxycorticosterone, tetrahydrocorticosterone, pregnenediol, pregnanediol) 3-Hydroxysteroid dehydrogenase deficiency (3bHSDD) HSD3B2 Glucocorticoid deficiency, (mineralocorticoid deficiency), adrenal androgen excess 17-Hydroxypregnanolone (pregnanetriol) P450 oxidoreductase deficiency (ORD) POR Glucocorticoid deficiency, (mineralocorticoid excess), androgen deficiency, skeletal malformations Pregnenolone, progesterone, 17-hydroxyprogesterone (pregnanediol, pregnanetriol)
  21. 21. TRATAMIENTO • Glucocorticoides – Hidrocortisona – Prednisolona • Mineralocorticoide y sal Hiperplasia adrenal congenita