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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:

TypeFeatures
Adrenalosympathetic (Paroxysmal)Hypertensive crises; sudden onset; pallor, irritability, fear, fever; BP rapidly swings from high to low; fatal without treatment
ContinuousRare crises (mainly children); resembles malignant HTN; nephrosclerosis, MI; sometimes + DM
NonsymptomaticRare; 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:

TypeSubcategoryExamples
Hypogonadotropic (↓ LH/FSH)Constitutional delayNormal variant
CongenitalKallmann syndrome, Prader-Willi, LH receptor defect
AcquiredCraniopharyngioma, adenoma, glioma, CNS infection/radiation
Hypergonadotropic (↑ LH/FSH)CongenitalKlinefelter, Turner, anorchism, steroidogenesis damage
AcquiredGonadal 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

ConditionKey HormoneKey Lab ChangeKey Drug
Cushing's↑ Cortisol-Glucocorticoid inhibitors
Conn's↑ AldosteroneK↓, Renin↓Spironolactone / Surgery
Addison's↓ CortisolK↑, Na↓Hydrocortisone
Pheo↑ CatecholaminesMetanephrines in urineAlpha-blockers
CAH↑ Androgens17-OH Prog ↑Glucocorticoids
Klinefelter↓ Testosterone↑ FSH/LHTestosterone
Turner↓ Estrogen↑ FSH/LHEstrogen + 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).
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