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🏥 ADRENAL GLANDS - Exam Notes
1. CUSHING'S SYNDROME (Cortisol Excess)
Causes:
- Iatrogenic - long-term glucocorticoid therapy (most common)
- Adrenal tumor - excess cortisol production
- Pituitary tumor (Cushing's Disease) - excess ACTH → stimulates adrenal cortex
- Ectopic ACTH - tumor elsewhere producing ACTH
Clinical Features:
- Moon face, buffalo hump, supraclavicular fat pad
- Central obesity + thin limbs
- Purple striae (abdomen/axilla), easy bruising
- Plethora (red round face)
- Hirsutism, female balding
- Muscle weakness, fatigue
- HTN, DM, poor wound healing
- Amenorrhea, decreased libido
- Severe depression, mood swings
- Blurry vision
Diagnosis:
- 24-hour urinary cortisol
- Low-dose dexamethasone suppression test
- MRI
Treatment:
- Depends on cause: surgery / radiation / chemo / cortisol-inhibiting drugs
- Iatrogenic → gradually reduce steroid dose; switch to alternate-day dosing
2. HYPERALDOSTERONISM
Primary (Conn's Syndrome)
Causes: Aldosteroma (adenoma), adrenocarcinoma - usually unilateral, <4cm
Key Labs: Aldosterone ↑, K ↓, Na ↑, Renin ↓, Hypokalemic alkalosis
Clinical Features:
- Resistant hypertension
- Eye changes, cardiac hypertrophy
- Neuromuscular: weakness, paresthesia, fatigue, cramps
- Renal: polyuria (up to 4L), polydipsia, nocturia, mild proteinuria
Treatment:
- Surgical resection (aldosteroma)
- Subtotal/total adrenalectomy for hyperplasia if spironolactone fails
Secondary Hyperaldosteronism
Cause: Prolonged angiotensin II stimulation
Key differences from Primary:
- Edema/swelling
- No hypertension
- Hypokalemia, hyponatruria
- Causes: cardiac insufficiency, decompensated DM
3. ADRENAL INSUFFICIENCY
Chronic (Addison's Disease-type)
Causes: Autoimmune or tuberculous damage
- Primary - adrenal pathology → ↓ cortisol, ↓ aldosterone, ↓ androgens
- Secondary - ↓ ACTH
- Tertiary - ↓ CRH
Clinical Features:
- Weakness, fatigue, weight loss (adults don't lose weight initially)
- Nausea, vomiting, abdominal pain, low appetite
- Hyperpigmentation (primary only - due to ↑ ACTH/MSH)
- Hypoglycemia, anemia, hypothermia
- Newborns: fail to gain weight
- Hypogonadism, steroidogenesis disorder
Associated Syndromes:
- APS1 (10-12 yrs): Adrenal insufficiency + Hypoparathyroidism + Candidiasis
- APS2:
- Adrenal insufficiency + AIT = Carpenter's syndrome
- Adrenal insufficiency + DM1 = Schmidt's syndrome
Labs:
- Cortisol ↓, K ↑, Na ↓
- ACTH ↑ (primary) / ACTH ↓ (secondary)
- CT: Primary = adrenal hypertrophy; Secondary = adrenal atrophy
Treatment:
- Glucocorticoid replacement (lifelong) ± mineralocorticoid
- Rehydration
- Treat hypoglycemia/collapse
Adrenal Crisis (Acute)
Triggers: Infection, trauma, surgery, stopping therapy, inadequate therapy
Clinical Features:
- Cardiovascular: collapse, acute cardiac insufficiency
- GI: nausea, vomiting, acetone smell, diarrhea, anorexia, abdominal pain
- Neuro: asthenia, adynamia, depression
Emergency Treatment:
- IV glucocorticoids immediately
- Rehydration
Waterhouse-Friderichsen Syndrome (Acute Primary Adrenal Insufficiency)
- Occurs after: difficult deliveries, septic infections, acute DIC, adrenal vascular thrombosis
- Acute glucocorticoid deficiency WITHOUT prior chronic insufficiency
- Features: deep resistant hypotension/collapse, pulmonary edema, dehydration → can be fatal
- Also: nausea, vomiting, diarrhea, visual hallucinations
- Treatment: Rehydration + glucocorticoid replacement
4. PHEOCHROMOCYTOMA
Definition: Tumor of adrenal medulla → excess catecholamine production
Key feature: Symptoms triggered by physical activity, position change, medical manipulation
Clinical Types:
| Type | Features |
|---|
| Adrenalosympathetic (Paroxysmal) | Hypertensive crises; sudden onset; pallor, irritability, fear, fever; BP rapidly swings from high to low; fatal without treatment |
| Continuous | Rare crises (mainly children); resembles malignant HTN; nephrosclerosis, MI; sometimes + DM |
| Nonsymptomatic | Rare; triggered by stress (surgery, trauma, delivery) |
Complications: MI, heart failure, pulmonary edema, hypertensive encephalopathy, stroke, carbohydrate intolerance
Diagnosis:
- Metanephrines in urine
- Ultrasound / CT / MRI / Screening
Treatment:
- Alpha-adrenoblockers: IV → IM (every 2-4h) → oral (after 3-6h)
- Adrenalectomy if hemodynamics uncontrollable
🧬 ADRENAL 2 - Congenital & Developmental Disorders
5. CONGENITAL ADRENAL HYPERPLASIA (CAH) - 21-Hydroxylase Deficiency
Most common form. Caused by CYP-21 mutation.
Result: ↓ cortisol, ↓ aldosterone, ↑ androgens (ACTH goes up → adrenal hyperplasia)
A) Salt-Losing Syndrome (Complete 21-OH deficiency)
- Complete loss of 21-hydroxylase → Aldosterone ↓ → Na lost through kidneys, Hyperkalemia
- Onset: 3-4 days after birth
- Symptoms: Weight loss, projectile vomiting, dry skin, low BP, bradycardia, cyanosis, hyperpigmentation, adynamia
- Girls: ambiguous genitalia; Boys: normal genitalia
- Labs: K ↑, Na ↓, Hypoglycemia, 17-OH Progesterone ↑, Karyotype
- Treatment: Glucocorticoids + Mineralocorticoids
B) Viril (Simple Virilizing) Type
- Girls: from birth; Boys: 2-5 years old
- Girls: ambiguous genitalia; Boys: normal
- Accelerated growth, premature puberty, hyperpigmentation
- Acute adrenal insufficiency may occur under stress
- Labs: K normal, Na normal, 17-OH Progesterone ↑
- Treatment: Glucocorticoids only
C) Nonsymptomatic (Late-Onset) Type
- Presents at prepuberty
- Normal genitalia
- Girls: virilism, hirsutism, early adrenarche, late menarche
- Boys: no symptoms / sometimes gynecomastia
- Labs: 17-OH Progesterone normal or mildly ↑, moderate bone age delay
- No treatment noted (monitoring)
6. HYPOGONADISM
Types:
| Type | Subcategory | Examples |
|---|
| Hypogonadotropic (↓ LH/FSH) | Constitutional delay | Normal variant |
| Congenital | Kallmann syndrome, Prader-Willi, LH receptor defect |
| Acquired | Craniopharyngioma, adenoma, glioma, CNS infection/radiation |
| Hypergonadotropic (↑ LH/FSH) | Congenital | Klinefelter, Turner, anorchism, steroidogenesis damage |
| Acquired | Gonadal infection, radiation, autoimmune, iatrogenic castration |
7. KLINEFELTER SYNDROME (47, XXY)
- Males with extra X chromosome
- Primary features: infertility + small testicles
- Taller stature, poor coordination, weaker muscles
- Gynecomastia, reduced body hair, low libido
- Usually normal intelligence; speech/reading problems common
- Hormones: Hypergonadotropic hypogonadism (↑ FSH, LH; ↓ testosterone)
Complications: Infertility, autoimmune disorders, breast cancer, VTE, osteoporosis
Treatment: Testosterone replacement therapy
8. TURNER SYNDROME (45, XO)
- Females partly/completely missing one X chromosome
- Features: Short stature, webbed neck, low-set ears, low posterior hairline, swollen hands/feet at birth
- Lymphostasis
- Hormones: Hypergonadotropic hypogonadism (no functional ovaries)
- No spontaneous puberty/menstruation without hormones; infertile (need ART)
- Associations: Heart defects, DM, hypothyroidism, vision/hearing problems
- Normal intelligence; difficulties with spatial visualization/math
Diagnosis: Ultrasound + clinical + hormonal + Karyotype
Treatment: Estrogen replacement + Growth hormone
⚡ QUICK RECALL TABLE
| Condition | Key Hormone | Key Lab Change | Key Drug |
|---|
| Cushing's | ↑ Cortisol | - | Glucocorticoid inhibitors |
| Conn's | ↑ Aldosterone | K↓, Renin↓ | Spironolactone / Surgery |
| Addison's | ↓ Cortisol | K↑, Na↓ | Hydrocortisone |
| Pheo | ↑ Catecholamines | Metanephrines in urine | Alpha-blockers |
| CAH | ↑ Androgens | 17-OH Prog ↑ | Glucocorticoids |
| Klinefelter | ↓ Testosterone | ↑ FSH/LH | Testosterone |
| Turner | ↓ Estrogen | ↑ FSH/LH | Estrogen + GH |
Good luck on your exam tomorrow! These notes cover everything in both slides - the key patterns to remember are cortisol excess (Cushing's) vs. deficiency (Addison's), the aldosterone axis (Conn's), pheo triggers/crises, and the chromosome numbers for Klinefelter (47,XXY) and Turner (45,XO).