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🏥 20 Hormonal (Endocrine) Diseases — Comprehensive Clinical Reference

All Age Groups | Treatment | Investigations | Findings | DDx | ICU/OPD | CBC | Nutrition

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📋 MASTER OVERVIEW TABLE

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1️⃣ TYPE 1 DIABETES MELLITUS (T1DM)

Pathophysiology

Age Group

Clinical Findings

• Classic triad: Polyuria, Polydipsia, Polyphagia + weight loss
• Diabetic Ketoacidosis (DKA): Kussmaul breathing, fruity breath, vomiting, altered consciousness
• Blurred vision, fatigue, recurrent infections

Investigations

Blood Count (CBC)

• RBC: Normal or ↓ (chronic disease anemia)
• WBC: ↑ Leukocytosis in DKA (stress response/infection)
• Platelets: Usually normal; ↑ (reactive thrombocytosis) in poor control

Treatment

Nutrition

• Carbohydrate counting (45–60g/meal adults)
• Low glycemic index foods; avoid concentrated sweets
• Regular meal timing; protein-adequate diet

Differential Diagnosis

• Type 2 DM (MODY), Maturity-Onset Diabetes of the Young (MODY)
• Pancreatogenic diabetes (Type 3c)
• DKA vs Hyperosmolar Hyperglycemic State (HHS)
• Drug-induced hyperglycemia (steroids)

Contraindications

• Metformin: contraindicated in T1DM as monotherapy
• Thiazolidinediones: not indicated in T1DM
• Sulfonylureas: avoid in T1DM

ICU Indications

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2️⃣ TYPE 2 DIABETES MELLITUS (T2DM)

Pathophysiology

Age Group

Clinical Findings

• Often asymptomatic early; detected on screening
• Polyuria, polydipsia, fatigue, blurred vision, slow-healing wounds
• Acanthosis nigricans (insulin resistance skin sign)
• Hyperosmolar Hyperglycemic State (HHS): extreme hyperglycemia, dehydration, altered consciousness — no ketones

Investigations

Blood Count (CBC)

• RBC: ↓ Normocytic anemia (CKD-related in advanced disease)
• WBC: Normal or mildly elevated
• Platelets: Often normal; ↑ in obesity/inflammation

Treatment

Nutrition

• Caloric deficit for weight loss (500–750 kcal/day deficit)
• Mediterranean or DASH diet preferred
• Fiber ≥25g/day; limit refined carbs, saturated fat, sugar-sweetened beverages

Differential Diagnosis

• T1DM (LADA — Latent Autoimmune Diabetes of Adults)
• MODY (monogenic; family history, young age)
• Cushing's syndrome (secondary DM)
• Acromegaly, glucagonoma

Contraindications

• Metformin: contraindicated if eGFR <30, severe liver disease, IV contrast (hold 48h), active alcoholism
• SGLT-2i: contraindicated if eGFR <20 (for glycemic purpose), T1DM (risk euDKA), recurrent UTI/genital infections
• GLP-1 agonists: contraindicated with personal/family history of medullary thyroid cancer/MEN2

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3️⃣ HYPOTHYROIDISM

Pathophysiology

Age Group

• Congenital: Neonates (cretinism if untreated)
• Hashimoto's thyroiditis: Adolescents, adults (F>>M)
• Primary atrophic: Elderly
• Iatrogenic: Post-thyroidectomy, post-radioiodine

Clinical Findings

• Cold intolerance, weight gain, constipation, fatigue, depression
• Bradycardia, delayed tendon reflexes ("hung-up reflex")
• Dry skin, hair loss, periorbital puffiness (myxedema)
• Goiter (Hashimoto's), hoarse voice, macroglossia
• Myxedema coma (severe): hypothermia, hypotension, hypoventilation, coma

Investigations

Blood Count (CBC)

• RBC: ↓ Macrocytic anemia (↓ EPO, B12/folate deficiency association), or normocytic
• WBC: Usually normal
• Platelets: May be ↓ (thrombocytopenia, rare); ↑ bleeding time

Treatment

Nutrition

• Adequate iodine (iodized salt, seafood) unless Hashimoto's
• Selenium supplementation may help Hashimoto's
• Take levothyroxine 30–60 min before food; avoid calcium/iron within 4h

Differential Diagnosis

• Depression, CFS, anemia
• Nephrotic syndrome (edema)
• Lipid disorder (hypercholesterolemia)
• Hypopituitarism (secondary hypothyroidism)

Contraindications

• Untreated adrenal insufficiency: do NOT start levothyroxine before cortisol replacement (precipitates adrenal crisis)
• Calcium, iron, cholestyramine: reduce LT4 absorption (separate by 4h)

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4️⃣ HYPERTHYROIDISM / GRAVES' DISEASE

Pathophysiology

Age Group

Clinical Findings

• Heat intolerance, weight loss despite good appetite, palpitations, tremor
• Tachycardia, atrial fibrillation, hypertension (widened pulse pressure)
• Exophthalmos (proptosis), lid lag, lid retraction — Graves' specific
• Pretibial myxedema, thyroid acropachy — Graves' specific
• Thyroid bruit, diffuse goiter
• Thyroid storm: HR >140, hyperpyrexia >40°C, confusion/coma — ICU emergency

Investigations

Blood Count (CBC)

• RBC: Normocytic anemia (increased plasma volume effect)
• WBC: ↓ Neutropenia (risk with propylthiouracil/methimazole — check BEFORE antithyroid therapy)
• Platelets: May be ↓ (immune thrombocytopenia in Graves')

Treatment

Nutrition

• High-calorie, high-protein diet (hypermetabolic state)
• Avoid iodine-rich foods/supplements (seaweed, kelp) if on antithyroid therapy
• Calcium/vitamin D supplementation post-thyroidectomy

Contraindications

• Methimazole: teratogenic in 1st trimester (use PTU instead)
• RAI: absolute contraindication in pregnancy and breastfeeding
• Iodine (Lugol's): never give BEFORE antithyroid drugs (Jod-Basedow worsening)

ICU Indications

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5️⃣ CUSHING'S SYNDROME

Pathophysiology

Age Group

Clinical Findings

• Central obesity (buffalo hump, moon face, supraclavicular fat pads)
• Purple striae >1 cm width, thin skin, easy bruising
• Proximal muscle weakness, osteoporosis (fractures)
• Hypertension, hyperglycemia/T2DM, hypokalemia
• Hirsutism (women), menstrual irregularity, erectile dysfunction
• Depression, psychosis, insomnia

Investigations

Blood Count (CBC)

• RBC: ↑ Polycythemia (cortisol stimulates erythropoiesis)
• WBC: ↑ Leukocytosis; neutrophilia + lymphopenia + eosinopenia (classic cortisol effect)
• Platelets: Normal or elevated

Treatment

Nutrition

• Low-sodium, low-calorie diet
• High calcium + vitamin D (counter osteoporosis)
• High protein (counter muscle wasting)

Differential Diagnosis

• Pseudo-Cushing's (depression, alcoholism, obesity)
• Metabolic syndrome
• PCOS (hirsutism, weight gain)
• Adrenal carcinoma

Contraindications

• Ketoconazole: hepatotoxicity risk; avoid with hepatic impairment
• Mitotane: teratogenic; contraception required

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6️⃣ ADDISON'S DISEASE (PRIMARY ADRENAL INSUFFICIENCY)

Pathophysiology

Age Group

Clinical Findings

• Fatigue, weight loss, anorexia, nausea, vomiting
• Hyperpigmentation (sun-exposed areas, buccal mucosa, skin creases, scars)
• Hypotension (especially orthostatic), salt craving
• Adrenal crisis (Addisonian crisis): Severe hypotension/shock, vomiting, abdominal pain, fever, altered consciousness — ICU EMERGENCY

Investigations

Blood Count (CBC)

• RBC: ↓ Normocytic anemia
• WBC: ↓ Lymphocytosis + eosinophilia (classic — opposite of cortisol excess)
• Platelets: Normal

Treatment

Nutrition

• Liberal salt diet (especially in hot weather/exercise)
• High-carbohydrate snacks to prevent hypoglycemia

Differential Diagnosis

• Septic shock (no hyperpigmentation, normal ACTH)
• Secondary adrenal insufficiency (pituitary; no hyperpigmentation; ↓ACTH)
• Hyponatremia from other causes (SIADH, hypothyroidism)

Contraindications

• Abrupt steroid discontinuation: never — precipitates adrenal crisis
• Rifampicin/anticonvulsants: accelerate cortisol metabolism (increase dose)

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7️⃣ CONGENITAL HYPOTHYROIDISM

Pathophysiology

Age Group

Clinical Findings

• At birth: often normal (maternal T4 protective)
• Week 2–4: prolonged neonatal jaundice, poor feeding, hypotonia ("floppy baby"), hoarse cry, large fontanelle, macroglossia, umbilical hernia, mottled/dry skin, hypothermia
• Untreated → Cretinism: Intellectual disability, short stature, deaf-mutism

Investigations

Blood Count (CBC)

• RBC: Macrocytic anemia common
• WBC: Usually normal
• Platelets: Normal

Treatment

• Levothyroxine 10–15 mcg/kg/day — start within 2 weeks of birth
• Monitoring: TSH/FT4 every 1–3 months in year 1; normalize TSH within 2 weeks
• Developmental follow-up essential

Nutrition

• Breastfeeding encouraged; avoid soy formula (blocks LT4 absorption)
• Adequate iodine in maternal diet during pregnancy

Contraindications

• Soy formula concurrent with LT4 — reduces absorption significantly

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8️⃣ CONGENITAL ADRENAL HYPERPLASIA (CAH)

Pathophysiology

Age Group

Clinical Findings

• Salt-wasting (neonatal): Vomiting, poor feeding, dehydration, hyponatremia, hyperkalemia, shock (life-threatening Week 1–3)
• Female virilization: Ambiguous genitalia at birth (clitoromegaly, labial fusion)
• Males: Normal genitalia but early pubic hair, rapid growth → short stature
• Non-classic (adolescent/adult): Hirsutism, irregular menses, acne, early pubic hair

Investigations

Blood Count (CBC)

• RBC: Normal or ↓ (Addisonian anemia component)
• WBC: ↑ In acute salt-wasting crisis (stress response)
• Platelets: Normal

Treatment

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9️⃣ DIABETES INSIPIDUS (DI)

Pathophysiology

• Central DI: ↓ADH production (pituitary/hypothalamus damage)
• Nephrogenic DI: Renal resistance to ADH
• Result: Massive dilute urine output → hypernatremia

Age Group

Clinical Findings

• Polyuria: 3–20 L/day of dilute urine
• Polydipsia (if thirst intact) → prevents hypernatremia
• Hypernatremia/dehydration if unable to access water (unconscious, infants)
• Nocturia, fatigue

Investigations

Blood Count (CBC)

• RBC: ↑ Hemoconcentration in dehydration
• WBC: Normal
• Platelets: Normal

Treatment

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🔟 SYNDROME OF INAPPROPRIATE ADH (SIADH)

Pathophysiology

Age Group

Clinical Findings

• Mild: headache, nausea, fatigue, confusion
• Severe (Na⁺ <120): seizures, coma, respiratory arrest
• No edema (euvolemic, not hypovolemic)

Investigations

Blood Count (CBC)

• RBC: ↓ Dilutional (pseudoanemia)
• WBC: Depends on underlying cause
• Platelets: Normal or ↓ (dilutional)

Treatment

Contraindications

• Rapid Na⁺ correction >12 mEq/L/day → osmotic demyelination syndrome (ODS)

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1️⃣1️⃣ ACROMEGALY

Pathophysiology

Age Group

Clinical Findings

• Enlargement of hands, feet, jaw (prognathism), nose, tongue
• Frontal bossing, widened teeth spacing
• Coarsening facial features, skin thickening
• Hyperhidrosis, oily skin
• Carpal tunnel syndrome, arthropathy
• Hypertension, T2DM, sleep apnea
• Visual field defects (bitemporal hemianopia — chiasm compression)
• Headache, fatigue

Investigations

Blood Count (CBC)

• RBC: ↑ Polycythemia (GH stimulates erythropoiesis)
• WBC: Normal
• Platelets: Normal

Treatment

Nutrition

• Low glycemic index diet (insulin resistance management)
• Calcium + Vitamin D (osteoporosis risk)

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1️⃣2️⃣ GIGANTISM

Pathophysiology

Age Group

Clinical Findings

• Height >3 SD above mean for age
• Large hands/feet, headache, visual changes
• Delayed puberty (if gonadotropin co-affected)
• Same metabolic features as acromegaly (hyperglycemia, hypertension)
• Gigantism + acral features if diagnosed late

Investigations

Blood Count (CBC)

• RBC: ↑ (as acromegaly)
• WBC/Platelets: Normal

Treatment

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1️⃣3️⃣ PHEOCHROMOCYTOMA

Pathophysiology

Age Group

Clinical Findings

• Classic triad: Episodic hypertension + headache + diaphoresis ("spells")
• Palpitations, pallor, anxiety, tremor
• Hypertensive crisis provoked by surgery, contrast, stress, drugs (TCA, metoclopramide)
• Sustained hypertension (50%) or paroxysmal (50%)
• Weight loss, hyperglycemia

Investigations

Blood Count (CBC)

• RBC: ↑ Polycythemia (EPO stimulation)
• WBC: ↑ Stress leukocytosis during crisis
• Platelets: Normal

Treatment

Contraindications

• NEVER give β-blockers before α-blockade (paradoxical hypertension — unopposed α-vasoconstriction)
• Metoclopramide, TCA, dopamine antagonists: can precipitate crisis

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1️⃣4️⃣ PRIMARY HYPERALDOSTERONISM (CONN'S SYNDROME)

Pathophysiology

Age Group

Clinical Findings

• Resistant hypertension (refractory to 3+ drugs)
• Hypokalemia: muscle weakness, cramps, palpitations, polyuria/polydipsia (nephrogenic DI-like)
• Often asymptomatic (K⁺ may be normal in 50%)
• Headache, fatigue

Investigations

Blood Count (CBC)

• RBC: Normal
• WBC: Normal
• Platelets: Normal

Treatment

Contraindications

• Spironolactone: contraindicated in CKD/hyperkalemia (eGFR <30), pregnancy
• ACE inhibitors/ARBs combined with spironolactone: hyperkalemia risk

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1️⃣5️⃣ HYPOPARATHYROIDISM

Pathophysiology

Age Group

Clinical Findings

• Tetany: Carpopedal spasm, perioral tingling, laryngospasm, bronchospasm
• Chvostek sign: Facial twitch on tapping CN VII
• Trousseau sign: Carpal spasm after BP cuff inflation
• Seizures (hypocalcemic), QTc prolongation → arrhythmia
• Cataracts, calcification of basal ganglia, dry skin, brittle nails

Investigations

Blood Count (CBC)

• RBC: Normal
• WBC: Lymphopenia (DiGeorge syndrome — thymic aplasia)
• Platelets: Normal

Treatment

Contraindications

• Thiazide diuretics promote Ca²⁺ reabsorption — potentially useful
• Loop diuretics: worsen hypocalcemia — avoid
• IV calcium too rapidly: cardiac arrest risk (bradycardia/asystole)

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1️⃣6️⃣ PRIMARY HYPERPARATHYROIDISM

Pathophysiology

Age Group

Clinical Findings

• Often asymptomatic (incidental hypercalcemia)
• Stones (nephrolithiasis), Bones (osteitis fibrosa cystica, fractures), Groans (GI: constipation, PUD, pancreatitis), Psychic moans (depression, cognitive impairment)
• Hypercalcemic crisis (Ca²⁺ >14 mg/dL): profound weakness, confusion, cardiac arrhythmia, coma — ICU

Investigations

Blood Count (CBC)

• RBC: ↑ (mild polycythemia) or normal
• WBC: Normal
• Platelets: Normal

Treatment

Contraindications

• Thiazides: worsen hypercalcemia — avoid
• Lithium: induces/worsens hyperparathyroidism

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1️⃣7️⃣ POLYCYSTIC OVARY SYNDROME (PCOS)

Pathophysiology

Age Group

Clinical Findings (Rotterdam criteria: 2 of 3)

1. Oligo/anovulation (irregular periods, infertility)
2. Clinical/biochemical hyperandrogenism (hirsutism, acne, alopecia, ↑testosterone)
3. Polycystic ovaries on USS (≥12 follicles per ovary or ovarian volume >10 mL)

• Metabolic: obesity, insulin resistance, T2DM risk, dyslipidemia
• Long-term: ↑endometrial cancer risk (anovulatory cycles → unopposed estrogen)
• Mood disorders, sleep apnea

Investigations

Blood Count (CBC)

• RBC: Normal or mild ↓ (oligomenorrheic; less blood loss)
• WBC: Normal or mild ↑ (low-grade inflammation)
• Platelets: Often ↑ (chronic inflammation/metabolic syndrome association)

Treatment

Nutrition

• Low glycemic index diet
• Weight loss reduces androgen levels and restores menstrual regularity
• Mediterranean diet (anti-inflammatory)

Contraindications

• Spironolactone: teratogenic (contraception mandatory); hyperkalemia if K⁺ abnormal
• OCP: avoid in migraine with aura, thrombophilia, smokers >35

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1️⃣8️⃣ PRECOCIOUS PUBERTY

Pathophysiology

• Central (GnRH-dependent): Premature hypothalamic GnRH → LH/FSH → sex hormone activation; often idiopathic in girls
• Peripheral (GnRH-independent): Gonadotropin-independent sex hormone secretion (CAH, McCune-Albright, exogenous hormones, gonadal/adrenal tumor)

Age Group

Clinical Findings

Investigations

Blood Count (CBC)

• RBC: ↑ (androgens stimulate erythropoiesis in boys)
• WBC: Normal
• Platelets: Normal

Treatment

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1️⃣9️⃣ GROWTH HORMONE DEFICIENCY (GHD)

Pathophysiology

Age Group

• Children: Short stature, delayed bone age
• Adults: Post-pituitary adenoma surgery/irradiation; metabolic syndrome phenotype

Clinical Findings

Investigations

Blood Count (CBC)

• RBC: ↓ Normocytic anemia (GH promotes erythropoiesis)
• WBC: Normal
• Platelets: Normal

Treatment

Contraindications

• GH therapy: contraindicated in active malignancy, proliferative diabetic retinopathy, closed epiphyses (children), Prader-Willi with severe obesity/sleep apnea (risk of sudden death)
• Titrate cautiously in diabetes (can worsen insulin resistance)

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2️⃣0️⃣ PROLACTINOMA

Pathophysiology

Age Group

Clinical Findings

Investigations

Blood Count (CBC)

• RBC: ↓ Normocytic anemia (estrogen deficiency in women; testosterone ↓ in men)
• WBC: Normal
• Platelets: Normal

Treatment

Contraindications

• Cabergoline: avoid in valvular heart disease (high dose fibrotic risk); use caution in psychiatric disorders
• Estrogen-only OCP in untreated prolactinoma: controversial (may stimulate growth)

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🔬 CONSOLIDATED CBC / HEMATOLOGY SUMMARY

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🏥 ICU vs OPD MANAGEMENT GUIDE

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🥗 CONSOLIDATED NUTRITION GUIDE

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⚠️ KEY CONTRAINDICATIONS SUMMARY

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🔍 DIFFERENTIAL DIAGNOSIS FLOWCHART

HYPERTENSION (resistant)
├── + Hypokalemia → PRIMARY HYPERALDOSTERONISM (Conn's)
├── + Spells, sweating, headache → PHEOCHROMOCYTOMA
├── + Moon face, striae, obesity → CUSHING'S SYNDROME
└── + Sleep apnea → ACROMEGALY

AMENORRHEA + GALACTORRHEA
├── + ↑ Prolactin + MRI adenoma → PROLACTINOMA
├── + TSH ↑ → HYPOTHYROIDISM
└── + LH:FSH ↑ + USS polycystic → PCOS

HYPOGLYCEMIA
├── Neonatal + salt-wasting → CAH or ADDISON'S
├── + Insulinoma features → Insulinoma (separate entity)
└── + Poor feeding, hypotonia, neonate → CONGENITAL HYPOTHYROIDISM / GHD

POLYURIA + POLYDIPSIA
├── Glucose ↑ → DM (T1 or T2)
├── Glucose normal + dilute urine + Na⁺ ↑ → DIABETES INSIPIDUS
├── Glucose normal + hypokalemia + HTN → CONN'S SYNDROME
└── Ca²⁺ ↑ → HYPERPARATHYROIDISM

TALL STATURE (child) + LARGE HANDS/FEET
└── ↑ IGF-1 + ↑ GH → GIGANTISM

SHORT STATURE (child)
├── ↓ IGF-1 + ↓ GH stimulation → GHD
└── ↑ TSH + ↓ FT4 → HYPOTHYROIDISM

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📊 DIAGNOSTIC FLOW SUMMARY (QUICK REFERENCE)

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