Endocrine Disorders

Endocrine Disorders

Introduction

·        The endocrine system is a network of glands that secrete hormones directly into the bloodstream to regulate essential physiological functions such as metabolism, growth, reproduction, stress response, and homeostasis.

·        Hormonal imbalance, whether due to overproduction (hypersecretion), underproduction (hyposecretion), or receptor defects, leads to endocrine disorders.

·        These conditions often affect multiple organ systems because hormones act as systemic regulators.

Disorders may result from

• Genetic mutations (e.g., Type I Diabetes, congenital hypothyroidism)
• Autoimmune diseases (e.g., Hashimoto’s thyroiditis, Addison’s disease)
• Tumors of endocrine glands (e.g., pituitary adenoma, adrenal tumors)
• Infections or trauma affecting endocrine glands
• Iatrogenic causes (medications, surgery, irradiation)

Diabetes Mellitus (Type I & Type II)

Type I Diabetes Mellitus (Insulin-Dependent Diabetes Mellitus – IDDM)

• Etiology: Autoimmune destruction of pancreatic β-cells → absolute insulin deficiency. Often occurs in children and adolescents.
• Pathophysiology: Lack of insulin → glucose cannot enter cells → hyperglycemia, lipolysis, ketone body production.
• Clinical Features:
• Polyuria, polydipsia, polyphagia
• Weight loss despite increased appetite
• Fatigue, irritability
• Ketoacidosis (nausea, vomiting, abdominal pain, fruity breath, Kussmaul breathing)
• Diagnosis: Fasting plasma glucose ≥126 mg/dL, HbA1c ≥6.5%, autoantibodies to islet cells (ICA, GAD antibodies).
• Treatment: Lifelong insulin therapy, diet modification, exercise, continuous glucose monitoring.

Type II Diabetes Mellitus (Non-Insulin Dependent Diabetes Mellitus – NIDDM)

• Etiology: Insulin resistance and β-cell dysfunction. Associated with obesity, sedentary lifestyle, genetics.
• Pathophysiology: Insulin present but ineffective → hyperglycemia, metabolic syndrome (hypertension, dyslipidemia, central obesity).
• Clinical Features:
• Often asymptomatic initially
• Polyuria, polydipsia, recurrent infections, slow wound healing
• Long-term complications: neuropathy, nephropathy, retinopathy, cardiovascular disease
• Diagnosis: Same as Type I, plus Oral Glucose Tolerance Test (OGTT).
• Treatment:
• Lifestyle modification (diet, exercise, weight loss)
• Oral hypoglycemic agents (metformin, sulfonylureas, SGLT2 inhibitors, GLP-1 analogs)
• Insulin in later stages.

Diabetic/Insulin Coma

• Diabetic Coma: Severe, life-threatening complication of uncontrolled diabetes.
• Types:
• Diabetic Ketoacidosis (DKA) – common in Type I.
• Hyperosmolar Hyperglycemic State (HHS) – common in Type II.
• Hypoglycemic Coma – due to insulin overdose or missed meals.

Diabetic Ketoacidosis (DKA)

• Cause: Absolute insulin deficiency → excess fat breakdown → ketone production → metabolic acidosis.
• Symptoms: Polyuria, dehydration, Kussmaul respiration, fruity breath, confusion, shock.
• Treatment: IV insulin, fluids, electrolytes (especially potassium).

Hyperosmolar Hyperglycemic State (HHS)

• Cause: Severe hyperglycemia without ketosis.
• Symptoms: Extreme dehydration, neurological impairment, coma.
• Treatment: IV fluids, insulin, electrolyte balance.

Hypoglycemic Coma

• Cause: Excess insulin, skipped meals, alcohol intake.
• Symptoms: Sweating, tremors, confusion, seizures, unconsciousness.
• Treatment: Oral glucose (if conscious) or IV dextrose/glucagon injection.

Thyroid Disorders

Hyperthyroidism (Thyrotoxicosis)

• Etiology:
• Graves’ disease (autoimmune)
• Toxic multinodular goiter
• Thyroid adenoma
• Pathophysiology: Excess T3/T4 → increased metabolic rate.
• Clinical Features:
• Weight loss with increased appetite
• Heat intolerance, sweating
• Tremors, irritability, insomnia
• Goiter (diffuse enlargement)
• Exophthalmos (in Graves’ disease)
• Diagnosis: Suppressed TSH, elevated T3/T4, thyroid antibodies.
• Treatment: Antithyroid drugs (carbimazole, propylthiouracil), β-blockers, radioactive iodine, surgery.

Hypothyroidism

• Etiology: Hashimoto’s thyroiditis (autoimmune), iodine deficiency, post-surgery or radioiodine therapy.
• Clinical Features:
• Weight gain, fatigue, cold intolerance
• Dry skin, hair loss, constipation
• Bradycardia, depression, memory loss
• Myxedema (severe cases)
• Diagnosis: Elevated TSH, low T3/T4.
• Treatment: Levothyroxine replacement therapy.

Goitre

• Definition: Enlargement of the thyroid gland, can be euthyroid, hyperthyroid, or hypothyroid.
• Types:
• Simple (diffuse or nodular)
• Toxic (producing excess hormones)
• Endemic (due to iodine deficiency)
• Clinical Features: Visible neck swelling, pressure symptoms (difficulty swallowing, breathing).
• Treatment: Iodine supplementation, surgery, or antithyroid treatment depending on type.

Diabetes Insipidus (DI)

• Definition: Disorder of water balance due to deficiency or resistance to Antidiuretic Hormone (ADH).
• Types:
• Central DI – lack of ADH (pituitary/hypothalamic damage)
• Nephrogenic DI – kidneys resistant to ADH
• Clinical Features:
• Polyuria (large dilute urine)
• Polydipsia (intense thirst)
• Dehydration, low urine specific gravity
• Diagnosis: Water deprivation test, low urine osmolality, response to desmopressin.
• Treatment: Desmopressin (central DI), thiazides (nephrogenic DI), adequate hydration.

Adrenal Gland Disorders

Cushing’s Syndrome

• Cause: Chronic excess cortisol due to adrenal tumor, pituitary adenoma (Cushing’s disease), or prolonged steroid therapy.
• Clinical Features:
• Moon face, buffalo hump, central obesity
• Purple striae, thin skin, easy bruising
• Muscle weakness, osteoporosis
• Hypertension, diabetes, menstrual irregularities
• Diagnosis: Elevated cortisol, dexamethasone suppression test, CT/MRI of adrenal/pituitary.
• Treatment: Surgery (tumor removal), steroid tapering, ketoconazole (cortisol synthesis inhibitor).

Addison’s Disease (Primary Adrenal Insufficiency)

• Cause: Autoimmune destruction of adrenal cortex, infections (TB, HIV), metastatic cancer.
• Pathophysiology: Deficiency of cortisol and aldosterone.
• Clinical Features:
• Fatigue, weight loss, muscle weakness
• Hypotension, dehydration, hyponatremia, hyperkalemia
• Hyperpigmentation (bronze skin) due to high ACTH
• Addisonian crisis: severe hypotension, shock, coma (life-threatening).
• Diagnosis: Low cortisol, high ACTH, ACTH stimulation test.
• Treatment: Lifelong hormone replacement (hydrocortisone, fludrocortisone), salt replacement, crisis management with IV steroids and fluids.

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