Physiology endocrine all the disease in tabular form
| Disease | Gland/Hormone Affected | Cause | Key Features / Clinical Findings | Hormone Levels | Treatment |
|---|---|---|---|---|---|
| Gigantism | Anterior pituitary - GH excess | GH-secreting pituitary adenoma (before epiphyseal closure) | Extraordinary linear height, tall stature, coarse facial features | GH ↑, IGF-1 ↑ | Somatostatin analogues; surgical removal of tumor |
| Acromegaly | Anterior pituitary - GH excess | GH-secreting pituitary adenoma (after epiphyseal closure) | Enlarged hands/feet, vertebral osteoarthritis, soft tissue swelling, hirsutism, brow/jaw protrusion, organ enlargement; 25% abnormal glucose tolerance; 4% lactation without pregnancy | GH ↑, IGF-1 ↑, prolactin ↑ in 20-40% | Somatostatin analogues; GH receptor antagonist; surgery |
| Hypopituitarism | Anterior pituitary - all hormones | Pituitary tumor, infarction, Sheehan syndrome | GH deficiency (dwarfism in children), gonadotropin deficiency (infertility, amenorrhea), TSH deficiency (hypothyroidism), ACTH deficiency (adrenal insufficiency) | All pituitary hormones ↓ | Hormone replacement therapy |
| Prolactinoma | Anterior pituitary - prolactin | Pituitary adenoma | Galactorrhea, amenorrhea, infertility (females); impotence, hypogonadism (males) | Prolactin ↑ | Dopamine agonists (bromocriptine, cabergoline); surgery |
| Central Diabetes Insipidus | Posterior pituitary - ADH | Destruction/damage to hypothalamic-posterior pituitary axis | Polyuria (large volumes of dilute urine), polydipsia, hypernatremia | ADH ↓ | Desmopressin (DDAVP) |
| SIADH (Syndrome of Inappropriate ADH) | Posterior pituitary - ADH | Pulmonary disorders (TB, pneumonia, lung cancer), CNS disorders, drugs | Hyponatremia, concentrated urine, water retention, neurological symptoms (confusion, seizure) | ADH ↑ inappropriately | Fluid restriction; demeclocycline; vasopressin receptor antagonists (tolvaptan) |
| Disease | Hormone Affected | Cause | Key Features / Clinical Findings | TSH | T3/T4 | Goiter? |
|---|---|---|---|---|---|---|
| Graves Disease | T3/T4 excess | TSH-receptor stimulating immunoglobulins (autoimmune) | Hyperthyroidism: weight loss, heat intolerance, tachycardia, sweating, anxiety, exophthalmos, pretibial myxedema | ↓ (negative feedback) | ↑ | Yes (trophic effect of immunoglobulins) |
| TSH-Secreting Tumor | T3/T4 excess | Pituitary adenoma secreting TSH | Hyperthyroidism symptoms (same as Graves) | ↑ | ↑ | Yes |
| Factitious Hyperthyroidism | T3/T4 excess (exogenous) | Ingestion of exogenous T4 | Hyperthyroidism symptoms | ↓ (suppressed) | ↑ | No (gland involutes) |
| Autoimmune Thyroiditis (Hashimoto's) | T3/T4 deficiency | Antibodies to thyroid peroxidase; autoimmune destruction | Hypothyroidism: weight gain, cold intolerance, bradycardia, constipation, fatigue, coarse hair, dry skin, myxedema | ↑ (negative feedback) | ↓ | Yes (TSH trophic effect) |
| TSH Deficiency Hypothyroidism | T3/T4 deficiency | Anterior pituitary failure | Hypothyroidism symptoms | ↓ | ↓ | No |
| Iodine Deficiency Goiter | T3/T4 deficiency | Dietary iodine deficiency | Euthyroid or hypothyroid; goiter from TSH overstimulation | ↑ | Low-normal or ↓ | Yes |
| Cretinism | T3/T4 deficiency | Congenital hypothyroidism (iodine deficiency or thyroid dysgenesis) | Mental retardation, short stature, coarse features, protruding tongue, umbilical hernia | ↑ | ↓ | May be present |
| Disease | Hormone Affected | Cause | Key Features / Clinical Findings | ACTH | Treatment |
|---|---|---|---|---|---|
| Addison Disease (Primary Adrenal Insufficiency) | Cortisol ↓, Aldosterone ↓, Adrenal androgens ↓ | Autoimmune destruction of adrenal cortex | Hypoglycemia, anorexia, weight loss, nausea/vomiting, weakness, hypotension, hyperkalemia, metabolic acidosis, decreased pubic/axillary hair (females), hyperpigmentation (key sign) | ↑ (negative feedback from low cortisol) | Glucocorticoid + mineralocorticoid replacement |
| Cushing Syndrome (Primary adrenal) | Cortisol ↑, Androgens ↑ | Adrenal tumor/hyperplasia; exogenous glucocorticoids | Hyperglycemia, muscle wasting, central obesity, round "moon" face, buffalo hump, supraclavicular fat pads, osteoporosis, striae (purple), hypertension, poor wound healing, virilization and menstrual disorders (females) | ↓ (negative feedback from high cortisol) | Ketoconazole; metyrapone; bilateral adrenalectomy |
| Cushing Disease (Pituitary ACTH excess) | Cortisol ↑ (driven by ACTH) | ACTH-secreting pituitary adenoma | Same as Cushing syndrome (above) | ↑ | Surgical removal of ACTH-secreting tumor |
| Ectopic ACTH Syndrome | Cortisol ↑ | Non-pituitary tumors (usually lung cancer) secreting ACTH or CRH | Features of Cushing syndrome; hypokalemia often severe; weight loss may occur | ↑ (very high) | Treat underlying tumor; ketoconazole |
| Conn Syndrome (Primary Hyperaldosteronism) | Aldosterone ↑ | Aldosterone-secreting adrenal tumor | Hypertension, hypokalemia, metabolic alkalosis, decreased renin levels, muscle weakness | Not directly affected | Spironolactone (aldosterone antagonist); surgery |
| 21β-Hydroxylase Deficiency (CAH) | Cortisol ↓, Aldosterone ↓; Androgens ↑ | Congenital enzyme defect in steroid biosynthesis | Virilization in females, early linear growth acceleration, early pubic/axillary hair (precocious puberty), symptoms of glucocorticoid + mineralocorticoid deficiency | ↑ | Glucocorticoid + mineralocorticoid replacement |
| 17α-Hydroxylase Deficiency (CAH) | Cortisol ↓, Androgens ↓; Mineralocorticoids ↑ | Congenital enzyme defect | Lack of pubic/axillary hair (females), symptoms of glucocorticoid deficiency, excess mineralocorticoid effects (hypertension, hypokalemia) | ↑ | Glucocorticoid replacement; spironolactone |
| Secondary Adrenal Insufficiency | Cortisol ↓ | Pituitary ACTH deficiency (e.g., prolonged exogenous steroid use) | Similar to Addison but WITHOUT hyperpigmentation (ACTH is low) and usually without hyperkalemia (aldosterone axis intact) | ↓ | Glucocorticoid replacement |
| Disease | Hormone Affected | Cause | Key Features / Clinical Findings | Lab Findings | Treatment |
|---|---|---|---|---|---|
| Pheochromocytoma | Epinephrine ↑, Norepinephrine ↑ | Catecholamine-secreting tumor of adrenal medulla (or extra-adrenal paraganglioma) | Episodic/sustained hypertension, palpitations, tachycardia, excessive sweating, headache, pallor, anxiety; hypertensive crisis; "5 H's": Hypertension, Headache, Hyperhidrosis, Heart palpitations, and pallor | Urinary metanephrines ↑, VMA ↑, plasma catecholamines ↑ | Alpha-blockade first (phenoxybenzamine), then beta-blockade; surgical removal |
| Disease | Hormone Affected | Cause | Key Features / Clinical Findings | Mechanism | Treatment |
|---|---|---|---|---|---|
| Type 1 Diabetes Mellitus | Insulin ↓ (absent) | Autoimmune destruction of pancreatic β cells | Polyuria, polydipsia, polyphagia, weight loss, hyperglycemia, glucosuria, DKA (diabetic ketoacidosis), prone to infections | Absolute insulin deficiency; cells cannot uptake glucose | Insulin replacement |
| Type 2 Diabetes Mellitus | Insulin resistance + relative deficiency | Target tissue insulin resistance (reduced PI3-kinase activation); down-regulation of insulin receptors (obesity, sedentary lifestyle) | Hyperglycemia, polyuria, polydipsia, often obese, gradual onset; less prone to DKA | Receptor signaling failure; compensatory hyperinsulinemia initially | Lifestyle modification; metformin; sulfonylureas (close ATP-K+ channels to stimulate insulin release); eventually insulin |
| Hypoglycemia | Glucose ↓ | Excess insulin, insulinoma, missed meals, alcohol, Addison disease | Sweating, tremor, tachycardia (epinephrine release), confusion, seizures, coma | Glucose below 50-60 mg/dL; brain deprived of glucose | Glucose (oral or IV); glucagon |
| Insulinoma | Insulin ↑ (autonomous) | Insulin-secreting pancreatic tumor | Fasting hypoglycemia, Whipple's triad (symptoms of hypoglycemia + low glucose + relief with glucose), weight gain | Autonomous insulin secretion | Surgical removal |
| Glucagonoma | Glucagon ↑ | Glucagon-secreting alpha-cell tumor | Necrolytic migratory erythema, diabetes mellitus, weight loss, stomatitis, anemia | Excess glucagonemia → gluconeogenesis, hyperglycemia | Surgery; octreotide |
| Disease | Hormone Affected | Cause | Key Features / Clinical Findings | PTH | Ca²⁺ | Phosphate |
|---|---|---|---|---|---|---|
| Primary Hyperparathyroidism | PTH ↑ | Parathyroid adenoma/hyperplasia | Hypercalcemia: "bones, stones, groans, moans" (bone pain/fractures, kidney stones, abdominal pain, neuropsychiatric symptoms), polyuria, polydipsia, constipation, muscle weakness | ↑ (autonomous) | ↑ | ↓ |
| Secondary Hyperparathyroidism | PTH ↑ (reactive) | Chronic kidney disease (low Ca²⁺, high phosphate) | Bone pain, fractures (renal osteodystrophy), pruritus, calcification; symptoms of CKD | ↑ (reactive) | ↓ or normal | ↑ |
| Hypoparathyroidism | PTH ↓ | Accidental removal during thyroid surgery; autoimmune | Hypocalcemia: tetany, Chvostek sign, Trousseau sign, perioral tingling, muscle cramps, seizures, prolonged QT interval | ↓ | ↓ | ↑ |
| Pseudohypoparathyroidism | PTH resistance | Resistance to PTH (Albright hereditary osteodystrophy) | Hypocalcemia + hyperphosphatemia despite high PTH; short stature, round face, short metacarpals, mental retardation | ↑ (elevated, ineffective) | ↓ | ↑ |
| Disease | Hormone Affected | Cause | Key Features / Clinical Findings | FSH/LH | Sex Steroids |
|---|---|---|---|---|---|
| Klinefelter Syndrome (XXY) | Testosterone ↓ | Seminiferous tubule dysgenesis; extra X chromosome | Small testes, infertility, gynecomastia, tall stature, cognitive effects | ↑ FSH/LH (primary gonadal failure) | Testosterone ↓ |
| Turner Syndrome (45, XO) | Estrogen ↓ | Ovarian dysgenesis; missing X chromosome | Short stature, webbed neck, shield chest, primary amenorrhea, infertility, coarctation of aorta | ↑ FSH/LH | Estrogen ↓ |
| Precocious Puberty | GnRH/LH/FSH/sex steroids ↑ early | Central (GnRH-dependent) or peripheral (GnRH-independent - e.g., adrenal tumor, McCune-Albright) | Sexual development before age 8 (females) or 9 (males), early linear growth then short adult stature (premature epiphyseal closure) | Varies by type | ↑ for age |
| Primary Hypogonadism (male) | Testosterone ↓ | Testicular failure (Klinefelter, orchitis, radiation) | Infertility, decreased libido, erectile dysfunction, decreased muscle mass, decreased beard | ↑ FSH/LH | Testosterone ↓ |
| Hypogonadotropic Hypogonadism | GnRH/LH/FSH ↓ | Hypothalamic/pituitary dysfunction (Kallmann syndrome, pituitary failure) | Delayed puberty, infertility, anosmia (Kallmann), eunuchoid body proportions | ↓ FSH/LH | Testosterone/Estrogen ↓ |
| Polycystic Ovary Syndrome (PCOS) | Androgens ↑, LH/FSH ratio ↑ | Insulin resistance, increased LH pulse frequency | Oligomenorrhea/amenorrhea, hirsutism, acne, infertility, polycystic ovaries on ultrasound, obesity | LH ↑, LH:FSH ratio >2:1 | Androgens ↑, estrogen variable |
| Disorder Type | Pattern | Classic Example |
|---|---|---|
| Primary gland failure | Hormone ↓, trophic hormone ↑ | Addison disease (cortisol ↓, ACTH ↑) |
| Secondary (pituitary) failure | Hormone ↓, trophic hormone ↓ | TSH deficiency hypothyroidism (T4 ↓, TSH ↓) |
| Primary gland hyperfunction | Hormone ↑, trophic hormone ↓ | Conn syndrome (aldosterone ↑, renin ↓) |
| Trophic hormone excess | Hormone ↑ (driven), trophic ↑ | Cushing disease (cortisol ↑, ACTH ↑) |
| Hormone resistance | Hormone ↑ (compensatory), effect absent | Type 2 DM (insulin ↑ initially, glucose ↑) |
| Ectopic hormone production | Trophic ↑ from non-endocrine tumor | Ectopic ACTH (ACTH ↑↑ from lung cancer) |