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Endocrine and Metabolic Disorders

Principles of Endocrinology
- Overview of the Endocrine System
- Overview of Endocrine Disorders
Acid-Base Regulation and Disorders
Adrenal Disorders
Amyloidosis
- Amyloidosis
Carcinoid Tumors
- Overview of Carcinoid Tumors
- Carcinoid Syndrome
Diabetes Mellitus and Disorders of Carbohydrate Metabolism
Electrolyte Disorders

Fluid Metabolism
Lipid Disorders
Multiple Endocrine Neoplasia (MEN) Syndromes
Pituitary Disorders
Polyglandular Deficiency Syndromes
Porphyrias
Thyroid Disorders

The endocrine system includes the pituitary, thyroid, parathyroids, adrenals, hypothalamus, pancreas, ovaries, and testes. Non-endocrine metabolic disorders include problems with fluid and electrolytes and acid-base disorders.

Endocrine and Metabolic DisordersSections (A-Z)

Acid-Base Regulation and Disorders

Metabolic processes continually produce acid and, to a lesser degree, base. Hydrogen ion (H + ) is especially reactive; it can attach to negatively charged proteins and, in high concentrations, alter their overall charge, configuration, and function. To maintain cellular function, the body has elaborate mechanisms that maintain blood H + concentration within a narrow range—typically 37 to 43 nmol/L (pH 7.43 to 7.37, where pH = − log [H + ]) and ideally 40 nmol/L (pH = 7.40). Disturbances of these mechanisms can have serious clinical consequences.

Acid-Base Regulation
Acid-Base Disorders
Metabolic Acidosis
Metabolic Alkalosis
Respiratory Acidosis
Respiratory Alkalosis

Adrenal Disorders

The adrenal glands, located on the cephalad portion of each kidney, consist of a

Overview of Adrenal Function
Addison Disease
Adrenal Virilism
Cushing Syndrome
Nonfunctional Adrenal Masses
Primary Aldosteronism
Pheochromocytoma
Secondary Adrenal Insufficiency
Secondary Aldosteronism

Amyloidosis

Amyloidosis is any of a group of disparate conditions characterized by extracellular deposition of insoluble fibrils composed of misaggregated proteins. These proteins may accumulate locally, causing relatively few symptoms, or widely, involving multiple organs and causing severe multiorgan failure. Amyloidosis can occur de novo or be secondary to various infectious, inflammatory, or malignant conditions. Diagnosis is by biopsy of affected tissue; the amyloidogenic protein is typed using a variety of immunohistologic and biochemical techniques. Treatment varies with the type of amyloidosis.

Amyloidosis

Carcinoid Tumors

Carcinoid tumors develop from neuroendocrine cells in the GI tract (90%), pancreas, and pulmonary bronchi . More than 95% of all GI carcinoids originate in only 3 sites: the appendix, ileum, and rectum.

Overview of Carcinoid Tumors
Carcinoid Syndrome

Diabetes Mellitus and Disorders of Carbohydrate Metabolism

Diabetes mellitus (DM) is impaired insulin secretion and variable degrees of peripheral insulin resistance leading to hyperglycemia. Early symptoms are related to hyperglycemia and include polydipsia, polyphagia, polyuria, and blurred vision. Later complications include vascular disease, peripheral neuropathy, nephropathy, and predisposition to infection. Diagnosis is by measuring plasma glucose. Treatment is diet, exercise, and drugs that reduce glucose levels, including insulin and oral antihyperglycemic drugs. Complications can be delayed or prevented with adequate glycemic control; heart disease remains the leading cause of mortality in DM.

Diabetes Mellitus (DM)
Complications of Diabetes Mellitus
Drug Treatment of Diabetes Mellitus
Diabetic Ketoacidosis (DKA)
Hyperosmolar Hyperglycemic State (HHS)
Alcoholic Ketoacidosis
Hypoglycemia

Electrolyte Disorders

Hyponatremia is decrease in serum sodium concentration 136 mEq/L caused by an excess of water relative to solute. Common causes include diuretic use, diarrhea, heart failure, liver disease, renal disease, and the syndrome of inappropriate ADH secretion (SIADH). Clinical manifestations are primarily neurologic (due to an osmotic shift of water into brain cells causing edema), especially in acute hyponatremia, and include headache, confusion, and stupor; seizures and coma may occur. Diagnosis is by measuring serum sodium. Serum and urine electrolytes and osmolality and assessment of volume status help determine the cause. Treatment involves restricting water intake and promoting water loss, replacing any sodium deficit, and correcting the underlying disorder.

Hyponatremia
Hypernatremia
Overview of Disorders of Potassium Concentration
Hypokalemia
Hyperkalemia
Overview of Disorders of Calcium Concentration
Hypocalcemia
Hypercalcemia
Overview of Disorders of Phosphate Concentration
Hypophosphatemia
Hyperphosphatemia
Overview of Disorders of Magnesium Concentration
Hypomagnesemia
Hypermagnesemia

Fluid Metabolism

Body fluid volume and electrolyte concentration are normally maintained within very narrow limits despite wide variations in dietary intake, metabolic activity, and environmental stresses. Homeostasis of body fluids is preserved primarily by the kidneys.

Water and Sodium Balance
Overview of Disorders of Fluid Volume
Volume Depletion
Volume Overload

Lipid Disorders

Lipids are fats that are either absorbed from food or synthesized by the liver. Triglycerides (TGs) and cholesterol contribute most to disease, although all lipids are physiologically important. The primary function of TGs is to store energy in adipocytes and muscle cells; cholesterol is a ubiquitous constituent of cell membranes, steroids, bile acids, and signaling molecules.

Overview of Lipid Metabolism
Dyslipidemia
Elevated High-Density Lipoprotein Levels (HDL)
Hypolipidemia

Multiple Endocrine Neoplasia (MEN) Syndromes

The multiple endocrine neoplasia (MEN) syndromes comprise 3 genetically distinct familial diseases involving adenomatous hyperplasia and malignant tumors in several endocrine glands.

Overview of Multiple Endocrine Neoplasias (MEN)
Multiple Endocrine Neoplasia, Type 1 (MEN 1)
Multiple Endocrine Neoplasia, Type 2A (MEN 2A)
Multiple Endocrine Neoplasia, Type 2B (MEN 2B)

Pituitary Disorders

The pituitary gland controls the functions of peripheral endocrine glands (see Figure: The Pituitary and Its Target Organs ). Pituitary structure and function and relationships between the hypothalamus and the pituitary gland are discussed in Overview of the Endocrine System .

Introduction to Pituitary Disorders
Central Diabetes Insipidus
Galactorrhea
Generalized Hypopituitarism
Gigantism and Acromegaly
Pituitary Lesions
Selective Pituitary Hormone Deficiencies

Polyglandular Deficiency Syndromes

Polyglandular deficiency syndromes (PDS) are characterized by sequential or simultaneous deficiencies in the function of several endocrine glands that have a common cause. Etiology is most often autoimmune. Categorization depends on the combination of deficiencies, which fall within 1 of 3 types. Diagnosis requires measurement of hormone levels and autoantibodies against affected endocrine glands. Treatment includes replacement of missing or deficient hormones and sometimes immunosuppressants.

Polyglandular Deficiency Syndromes
IPEX Syndrome
POEMS Syndrome

Porphyrias

Porphyrias result from genetic or acquired deficiencies of enzymes of the heme biosynthetic pathway. These deficiencies allow heme precursors to accumulate, causing toxicity. Porphyrias are defined by the specific enzyme deficiency. Two major clinical manifestations occur: neurovisceral abnormalities (the acute porphyrias) and cutaneous photosensitivity (the cutaneous porphyrias).

Overview of Porphyrias
Acute Porphyrias
Overview of Cutaneous Porphyrias
Porphyria Cutanea Tarda
Erythropoietic Protoporphyria and X-linked Protoporphyria

Principles of Endocrinology

The endocrine system coordinates functioning between different organs through hormones, which are chemicals released into the bloodstream from specific types of cells within endocrine (ductless) glands. Once in circulation, hormones affect function of the target tissues, which may be another endocrine gland or an end organ. Some hormones exert an effect on cells of the organ from which they were released (paracrine effect), some even on the same cell type (autocrine effect).

Overview of the Endocrine System
Overview of Endocrine Disorders

Thyroid Disorders

The thyroid gland, located in the anterior neck just below the cricoid cartilage, consists of 2 lobes connected by an isthmus. Follicular cells in the gland produce the 2 main thyroid hormones:

Overview of Thyroid Function
Approach to the Patient With a Thyroid Nodule
Euthyroid Sick Syndrome
Hashimoto Thyroiditis
Hyperthyroidism
Hypothyroidism
Silent Lymphocytic Thyroiditis
Subacute Thyroiditis
Simple Nontoxic Goiter
Thyroid Cancers

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Test your knowledge

Total serum calcium is usually what is determined by clinical laboratory measurement. However, ideally, the physiologically active form of calcium in plasma should also be measured or estimated because its blood level does not always correlate with total serum calcium. Which of the following is the physiologically active form of calcium in plasma?

Complexed calcium Complexed calcium Ionized calcium Ionized calcium Protein-bound calcium Protein-bound calcium Total calcium Total calcium

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Endocrine and Metabolic Disorders