The document discusses adrenal disorders including Cushing's syndrome, Conn's syndrome, and adrenal incidentalomas. Cushing's syndrome can be ACTH-dependent or independent and is characterized by weight gain, central obesity, and other signs. Conn's syndrome is caused by excess mineralocorticoids and leads to hypertension, hypokalemia, and edema. Adrenal incidentalomas found on imaging require evaluation to determine if they are functional or malignant. Congenital adrenal hyperplasia is also discussed, with different forms causing deficiencies or excesses in glucocorticoids, mineralocorticoids, or androgens. Treatment involves replacing deficient hormones.

1. Trastornos adrenales
Sandra Milena Acevedo Rueda
MD Residente
Medicina Interna UNAB

2. Introduccion
• Peso: 6 a 11 gramos
• Irrigacion
• Drenaje
• Origen embriologico

4. Ejes
• Eje hipotalamo hipofisis adrenal
• Eje renina angiotensina aldosterona

11. 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

12. • 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)

13. 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

15. Tratamiento
Quirurgico
Metirapona
Ketoconazol

16. Exceso de mineralocorticoides
• Sindrome de Conn
– Prevalencia no reconocida, hasta 12%
• Hiperaldosteronismo primario
– Hiperplasia adrenal micronodular bilateral >>>
– Adenoma adrenal unilateral
– Carcinoma – Raro (grandes)

17. Abbreviations: DOC, deoxycorticosterone; ENaC, epithelial sodium channel; GR,
glucocorticoid receptor; MR, mineralocorticoid receptor.

18. Exceso de mineralocorticoides
• Hipertension
• Hipokalemia (deb.muscular, paralisis)
• Alcalosis metabolica (calambres,tetania)
• Remodelacion cardiaca
• Dano glomerular
• Edemas perifericos

20. Trends Endocrinol Metab 1994; 5:97

21. 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

22. 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

23. Exceso de mineralocorticoides
• Cirugia
• Espironolactona
• Eplerenona
• Amiloride

24. 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

25. 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

26. Incidentaloma
• DOS PREGUNTAS
– Actividad ?
– Malignidad ?
>1 cm

28. 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

31. Hiperplasia adrenal congenita

32. 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)

33. TRATAMIENTO
• Glucocorticoides
– Hidrocortisona
– Prednisolona
• Mineralocorticoide y sal
Hiperplasia adrenal congenita