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Pathology- Congenital Adrenal Hyperplasias
Autosomal recessive defect in enzymes related to the production of cortical steroids.
Bilateral nodular hyperplasia of the adrenal gland with lipid-depleted cortical cells.
21-beta-hydroxylase deficiency disrupts the production of aldosterone and cortisol, leading to the redirection of precursor molecules to produce sex hormones.
11-beta-hydroxylase deficiency disrupts the production of aldosterone and cortisol, leading to the redirection of precursor molecules to produce sex hormones.
17 alpha-Hydroxylase deficiency disrupts the production of cortisol and sex hormones, leading to the redirection of precursor molecules to produce aldosterone.
21-beta Hydroxylase deficiency presents with masculinization, hypotension, hyperkalemia, and hyponatremia, which can result in hypovolemia due to salt wasting.
11-beta Hydroxylase deficiency presents with masculinization, premature puberty, hypertension (caused by the weak mineralocorticoid activity of 11 beta deoxycorticosterone), and no salt wasting.
17-alpha Hydroxylase deficiency presents with hypertension, hypokalemia, lack of sexual development, and low cortisol levels.
Administering hormones to correct deficiencies and providing treatment for symptoms.
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Pathology - Pheochromocytoma
Approximately 90% of instances occur irregularly. Other instances are linked to MEN IIA, MEN IIB, neurofibromatosis, or von Hippel-Lindau disease.
Pathology
Gross findings include variable alterations in the adrenal medulla, ranging from small confined lesions to massive hemorrhagic lesions with a lobular pattern.
The tumor is made up of clusters of polygonal chromaffin cells with catecholamine-rich granules. Occasionally, enormous, pleomorphic cells can be observed.
Symptoms and signs
Intermittent bouts of hypertension, headache, palpitations, and diaphoresis are caused by the release of epinephrine and norepinephrine from tumors.
Laboratory results: Elevated 24-hour urinary catecholamine and metanephrine levels, as well as elevated plasma metanephrine levels.
Therapies
Begin treatment with alpha-adrenergic blocking medications (phenoxybenzamine) and then proceed with surgical removal of the mass.
Pheochromocytomas exhibit the following characteristics: 10% are malignant, 10% are bilateral, 10% are familial, 10% are extra-adrenal, and 10% occur in youngsters. Pheochromocytomas can develop in locations other than the adrenal gland and are referred to as paragangliomas.
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Pathology - Diabetes Mellitus
Type 1 diabetes results from the loss of pancreatic beta cells due to genetic predisposition (HLA-DR3 or -DR4), autoimmune responses, and environmental factors (such as Coxsackie and other viruses). It typically affects individuals under 20 years old.
Type 2 diabetes is characterized by peripheral tissue insulin resistance due to reduced insulin receptors and decreased responsiveness of beta cells to glucose. Approximately 90% of type 2 diabetes patients have a family history of the condition and it commonly affects obese middle-aged individuals.
Hyperglycemia causes elevated glucose excretion in urine, resulting in osmotic diuresis which leads to increased urine output and loss of water and electrolytes (polyuria). This leads to plasma hyperosmolarity which triggers thirst receptors, causing polydipsia.
Insufficient insulin leads to the breakdown of proteins and fats, resulting in weight loss despite an increase in appetite, as seen in type 1 diabetes mellitus.
Enhanced breakdown of fats leads to elevated free fatty acid levels, which results in the generation of ketone bodies and can lead to ketoacidosis, as seen in type 1 diabetes mellitus.
Type 1 diabetes symptoms include hyperglycemia, glycosuria, polyuria, polydipsia, weight loss despite increased appetite, and ketoacidosis characterized by dehydration, deep and fast (Kussmaul) breathing, fruity breath, anion-gap metabolic acidosis, ketonemia, and ketonuria.
Type 2 diabetes symptoms may include high blood sugar levels, sugar in urine, excessive urination, skin or vaginal infections, and nonketotic hyperosmolar coma.
Maturity-onset diabetes of the young (MODY) is a kind of diabetes that results from autosomal dominant genetic abnormalities affecting pancreatic beta-cell activity.
Type 1: Islet atrophy; Infiltration of T-lymphocytes.
Type 2 involves the replacement of islets with amyloid and a slight decrease in islet size.
Pathophysiology: Nonenzymatic glycosylation of proteins in artery walls and tissues results in the entrapment of molecules like LDL and plasma proteins, leading to problems. Hyperglycemia can elevate intracellular sorbitol levels, resulting in osmotic cell injury, particularly in the lens.
Ocular problems may include cataracts, glaucoma, and proliferative retinopathy, which can lead to blindness.
Accelerated atherosclerosis can cause myocardial infarction, gangrene, and stroke by trapping low-density lipoprotein (LDL) in endothelial cells.
Diabetic microangiopathy, caused by NEG, results in thickening of basement membranes in many tissues such as the retina, kidney, skin, and skeletal muscle. This condition can cause delayed wound healing and increase the risk of infection.
Diabetic nephropathy is caused by damage to basement membranes.
Peripheral and autonomic neuropathy can cause a loss of sensation in a stocking-glove distribution, along with delayed motor movements, discomfort, and autonomic instability.
Treatment includes dietary restrictions, insulin replacement for type 1 diabetes, hypoglycemic medicines such as sulfonylureas or insulin for type 2 diabetes, statins for atherosclerosis, and ACE inhibitors for diabetic nephropathy.
Long-term glucose regulation, for example, spanning over a period of 3 months, can be evaluated by measuring the levels of glycosylated hemoglobin (HbA1).
Type 1 diabetes results from the loss of pancreatic beta cells due to genetic predisposition (HLA-DR3 or -DR4), autoimmune responses, and environmental factors (such as Coxsackie and other viruses). It typically affects individuals under 20 years old.
Type 2 diabetes is characterized by peripheral tissue insulin resistance due to reduced insulin receptors and decreased responsiveness of beta cells to glucose. Approximately 90% of type 2 diabetes patients have a family history of the condition and it commonly affects obese middle-aged individuals.
Hyperglycemia causes elevated glucose excretion in urine, resulting in osmotic diuresis which leads to increased urine output and loss of water and electrolytes (polyuria). This leads to plasma hyperosmolarity which triggers thirst receptors, causing polydipsia.
Insufficient insulin leads to the breakdown of proteins and fats, resulting in weight loss despite an increase in appetite, as seen in type 1 diabetes mellitus.
Enhanced breakdown of fats leads to elevated free fatty acid levels, which results in the generation of ketone bodies and can lead to ketoacidosis, as seen in type 1 diabetes mellitus.
Type 1 diabetes symptoms include hyperglycemia, glycosuria, polyuria, polydipsia, weight loss despite increased appetite, and ketoacidosis characterized by dehydration, deep and fast (Kussmaul) breathing, fruity breath, anion-gap metabolic acidosis, ketonemia, and ketonuria.
Type 2 diabetes symptoms may include high blood sugar levels, sugar in urine, excessive urination, skin or vaginal infections, and nonketotic hyperosmolar coma.
Maturity-onset diabetes of the young (MODY) is a kind of diabetes that results from autosomal dominant genetic abnormalities affecting pancreatic beta-cell activity.
Type 1: Islet atrophy; Infiltration of T-lymphocytes.
Type 2 involves the replacement of islets with amyloid and a slight decrease in islet size.
Pathophysiology: Nonenzymatic glycosylation of proteins in artery walls and tissues results in the entrapment of molecules like LDL and plasma proteins, leading to problems. Hyperglycemia can elevate intracellular sorbitol levels, resulting in osmotic cell injury, particularly in the lens.
Ocular problems may include cataracts, glaucoma, and proliferative retinopathy, which can lead to blindness.
Accelerated atherosclerosis can cause myocardial infarction, gangrene, and stroke by trapping low-density lipoprotein (LDL) in endothelial cells.
Diabetic microangiopathy, caused by NEG, results in thickening of basement membranes in many tissues such as the retina, kidney, skin, and skeletal muscle. This condition can cause delayed wound healing and increase the risk of infection.
Diabetic nephropathy is caused by damage to basement membranes.
Peripheral and autonomic neuropathy can cause a loss of sensation in a stocking-glove distribution, along with delayed motor movements, discomfort, and autonomic instability.
Treatment includes dietary restrictions, insulin replacement for type 1 diabetes, hypoglycemic medicines such as sulfonylureas or insulin for type 2 diabetes, statins for atherosclerosis, and ACE inhibitors for diabetic nephropathy.
Long-term glucose regulation, for example, spanning over a period of 3 months, can be evaluated by measuring the levels of glycosylated hemoglobin (HbA1).
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Pathology - Subacute (de Quervain, Granulomatous) Thyroiditis
Linked to viral infection, particularly mumps or Coxsackievirus.
Prevalent among women between the ages of 30 and 50.
Thyroid is mildly enlarged.
Microscopic findings include granulomatous inflammation and destruction of thyroid follicles.
Flu-like symptoms linked to temporary hyperthyroidism, fever, and a sensitive thyroid gland, then transitioning to temporary hypothyroidism.
NSAIDs or prednisone can be used for severe discomfort, with monthly monitoring of thyroid function tests to confirm remission of abnormalities.
Most patients recover to a normal thyroid condition within 6 months in this self-limiting sickness.
Linked to viral infection, particularly mumps or Coxsackievirus.
Prevalent among women between the ages of 30 and 50.
Thyroid is mildly enlarged.
Microscopic findings include granulomatous inflammation and destruction of thyroid follicles.
Flu-like symptoms linked to temporary hyperthyroidism, fever, and a sensitive thyroid gland, then transitioning to temporary hypothyroidism.
NSAIDs or prednisone can be used for severe discomfort, with monthly monitoring of thyroid function tests to confirm remission of abnormalities.
Most patients recover to a normal thyroid condition within 6 months in this self-limiting sickness.
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Pathology - Multinodular Goiter
Typically originates from persistent, uncomplicated goiters, which may result from iodine shortage, goitrogens (such as calcium or fluorides), or deficiency in thyroid hormone biosynthesis enzymes.
Pathology: The thyroid gland shows asymmetrical, nodular hypertrophy.
Microscopic examination reveals individual nodules with colloid-rich follicles, follicular epithelial hyperplasia, and regions of hemorrhage, calcification, and fibrosis.
Clinical Symptoms
Goiter often presents in euthyroid people, although some may have hyperthyroidism. Symptoms may include dysphagia or hoarseness caused by compression of nearby structures.
Treatment involves administering synthetic levothyroxine to patients who are euthyroid in order to control TSH levels and reduce hyperplasia.
A goiter can be either toxic, producing thyroid hormone (TH) and causing hyperthyroidism, or nontoxic, not producing TH.
A biopsy (FNA) is necessary for big irregular nodules to exclude the presence of cancer.
Typically originates from persistent, uncomplicated goiters, which may result from iodine shortage, goitrogens (such as calcium or fluorides), or deficiency in thyroid hormone biosynthesis enzymes.
Pathology: The thyroid gland shows asymmetrical, nodular hypertrophy.
Microscopic examination reveals individual nodules with colloid-rich follicles, follicular epithelial hyperplasia, and regions of hemorrhage, calcification, and fibrosis.
Clinical Symptoms
Goiter often presents in euthyroid people, although some may have hyperthyroidism. Symptoms may include dysphagia or hoarseness caused by compression of nearby structures.
Treatment involves administering synthetic levothyroxine to patients who are euthyroid in order to control TSH levels and reduce hyperplasia.
A goiter can be either toxic, producing thyroid hormone (TH) and causing hyperthyroidism, or nontoxic, not producing TH.
A biopsy (FNA) is necessary for big irregular nodules to exclude the presence of cancer.
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Pathology - Thyroid Carcinoma
Linked to radiation exposure to the head/neck or a genetic tendency for thyroid cancer.
Thyroid: Firm nodules present.
Microscopic: Four histological kinds. (1) Follicular: tiny, homogeneous follicles packed with colloid. (2) Papillary thyroid cancer: accounts for 75%-80% of cases, characterized by papillae made of cuboidal cells, Orphan Annie nuclei, and psammoma bodies; (3) Medullary thyroid cancer: originates from C cells, forming nests of cells surrounded by amyloid deposits; (4) Anaplastic thyroid cancer: has pleomorphic large cells, spindle cells, and small anaplastic cells.
Presence of a painless lump in the neck, which may cause difficulty swallowing or hoarseness due to local pressure; thyroid function tests often show normal results.
Papillary cancer spreads to nearby lymph nodes.
Follicular cancer spreads to the lung and bone through the bloodstream.
Medullary gland secretes calcitonin and is linked to Multiple Endocrine Neoplasia type IIA and IIB.
Treatment options include thyroidectomy, lobectomy, and radioactive iodine treatment.
Papillary thyroid cancer has a favorable prognosis, while anaplastic thyroid cancer has a notably unfavorable prognosis.
Thyroid adenomas are prevalent. Microscopically, they consist of consistent follicles filled with colloid, although having different histologic variations. They are not deemed precancerous and typically do not perform any function.
Linked to radiation exposure to the head/neck or a genetic tendency for thyroid cancer.
Thyroid: Firm nodules present.
Microscopic: Four histological kinds. (1) Follicular: tiny, homogeneous follicles packed with colloid. (2) Papillary thyroid cancer: accounts for 75%-80% of cases, characterized by papillae made of cuboidal cells, Orphan Annie nuclei, and psammoma bodies; (3) Medullary thyroid cancer: originates from C cells, forming nests of cells surrounded by amyloid deposits; (4) Anaplastic thyroid cancer: has pleomorphic large cells, spindle cells, and small anaplastic cells.
Presence of a painless lump in the neck, which may cause difficulty swallowing or hoarseness due to local pressure; thyroid function tests often show normal results.
Papillary cancer spreads to nearby lymph nodes.
Follicular cancer spreads to the lung and bone through the bloodstream.
Medullary gland secretes calcitonin and is linked to Multiple Endocrine Neoplasia type IIA and IIB.
Treatment options include thyroidectomy, lobectomy, and radioactive iodine treatment.
Papillary thyroid cancer has a favorable prognosis, while anaplastic thyroid cancer has a notably unfavorable prognosis.
Thyroid adenomas are prevalent. Microscopically, they consist of consistent follicles filled with colloid, although having different histologic variations. They are not deemed precancerous and typically do not perform any function.
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Pathology - Diabetes Insipidus
Diabetes Insipidus
Central diabetes insipidus is characterized by a lack of ADH secretion from the posterior pituitary. It can be either idiopathic or result from damage to the hypothalamus, such as from neoplastic or traumatic causes, or histiocytosis.
Nephrogenic diabetes insipidus is characterized by faulty ADH receptors in the kidney. It can be caused by hereditary deficiency, certain medicines (such as lithium and demeclocycline), hypercalcemia, or tubulointerstitial renal disease.
Insufficient ADH or the kidney's inability to detect ADH leads to the inability to retain water, causing excessive urine production. Insufficient water retention causes a rise in serum osmolality, triggering the activation of thirst receptors in the brain and the posterior pituitary gland to secrete additional ADH.
Clinical Symptoms and Signs
Symptoms include excessive thirst and urination, seizures, headaches, and indications of dehydration.
Laboratory results: Elevated serum osmolality, high levels of sodium in the blood, and reduced urine specific gravity.
Desmopressin treatment for central diabetic insipidus.
Low-sodium diet and thiazide diuretic prescribed for nephrogenic diabetic insipidus.
Diabetes Insipidus
Central diabetes insipidus is characterized by a lack of ADH secretion from the posterior pituitary. It can be either idiopathic or result from damage to the hypothalamus, such as from neoplastic or traumatic causes, or histiocytosis.
Nephrogenic diabetes insipidus is characterized by faulty ADH receptors in the kidney. It can be caused by hereditary deficiency, certain medicines (such as lithium and demeclocycline), hypercalcemia, or tubulointerstitial renal disease.
Insufficient ADH or the kidney's inability to detect ADH leads to the inability to retain water, causing excessive urine production. Insufficient water retention causes a rise in serum osmolality, triggering the activation of thirst receptors in the brain and the posterior pituitary gland to secrete additional ADH.
Clinical Symptoms and Signs
Symptoms include excessive thirst and urination, seizures, headaches, and indications of dehydration.
Laboratory results: Elevated serum osmolality, high levels of sodium in the blood, and reduced urine specific gravity.
Desmopressin treatment for central diabetic insipidus.
Low-sodium diet and thiazide diuretic prescribed for nephrogenic diabetic insipidus.
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Pathology - Hashimoto Thyroiditis
Hashimoto Thyroiditis is an autoimmune illness.
Incidence is higher in middle-aged women, persons with a family history of Hashimoto or other autoimmune disorders, and those who are HLA-DRS- and BLABS-positive.
Pathology
Gross: Symmetrical thyroid hypertrophy resulting in a goiter.
The thyroid gland shows infiltration by lymphocytes and plasma cells, development of germinal centers, atrophic follicles, and Hurthle cells (epithelial cells with eosinophilic cytoplasm) under microscopic examination.
Symptoms and signs
Temporary excessive thyroid hormone levels, then decreased thyroid hormone levels.
Laboratory results: Autoantibodies target TG, thyroid peroxidase, TSH receptors, and/or iodine receptors.
Therapy: Synthetic levothyroxine.
Riedel thyroiditis is an uncommon form of thyroiditis marked by gradual fibrosis of the thyroid gland that spreads into other structures in the neck. The condition presents as a painless goiter that is firm, accompanied by difficulty swallowing or hoarseness. Approximately 30% of people will also experience hypothyroidism. Treatment involves partial thyroidectomy and corticosteroids.
Hashimoto Thyroiditis is an autoimmune illness.
Incidence is higher in middle-aged women, persons with a family history of Hashimoto or other autoimmune disorders, and those who are HLA-DRS- and BLABS-positive.
Pathology
Gross: Symmetrical thyroid hypertrophy resulting in a goiter.
The thyroid gland shows infiltration by lymphocytes and plasma cells, development of germinal centers, atrophic follicles, and Hurthle cells (epithelial cells with eosinophilic cytoplasm) under microscopic examination.
Symptoms and signs
Temporary excessive thyroid hormone levels, then decreased thyroid hormone levels.
Laboratory results: Autoantibodies target TG, thyroid peroxidase, TSH receptors, and/or iodine receptors.
Therapy: Synthetic levothyroxine.
Riedel thyroiditis is an uncommon form of thyroiditis marked by gradual fibrosis of the thyroid gland that spreads into other structures in the neck. The condition presents as a painless goiter that is firm, accompanied by difficulty swallowing or hoarseness. Approximately 30% of people will also experience hypothyroidism. Treatment involves partial thyroidectomy and corticosteroids.
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Pathology - Cretinism and Myxedema
Cretinism is a kind of hypothyroidism that occurs during infancy. It can be caused by iodine insufficiency, congenital thyroid malformation, or a loss of enzymes responsible for synthesizing thyroid hormones.
Myxedema is a condition of hypothyroidism that typically affects middle-aged women. It can be caused by factors such as iodine shortage or surgical/radiation damage to the thyroid gland.
Thyroid: Moderate gland hypertrophy.
Soft tissues show an accumulation of glycosaminoglycans and hyaluronic acid.
Cretinism is characterized by symptoms of hypothyroidism, which include delayed development of the musculoskeletal and nervous systems leading to low stature, bloated abdomen, and mental retardation. Other common features are goiter, edematous face, and a big tongue.
Myxedema is a condition characterized by symptoms of hypothyroidism, including goiter, thickening of facial features, periorbital edema, pale skin. In extreme cases, myxedema coma can occur, leading to hypotension, bradycardia, hypothermia, and respiratory depression.
Therapy: Synthetic levothyroxine.
Cretinism has become less common due to the widespread inclusion of iodine to diets and screening of neonates for hypothyroidism.
Cretinism is a kind of hypothyroidism that occurs during infancy. It can be caused by iodine insufficiency, congenital thyroid malformation, or a loss of enzymes responsible for synthesizing thyroid hormones.
Myxedema is a condition of hypothyroidism that typically affects middle-aged women. It can be caused by factors such as iodine shortage or surgical/radiation damage to the thyroid gland.
Thyroid: Moderate gland hypertrophy.
Soft tissues show an accumulation of glycosaminoglycans and hyaluronic acid.
Cretinism is characterized by symptoms of hypothyroidism, which include delayed development of the musculoskeletal and nervous systems leading to low stature, bloated abdomen, and mental retardation. Other common features are goiter, edematous face, and a big tongue.
Myxedema is a condition characterized by symptoms of hypothyroidism, including goiter, thickening of facial features, periorbital edema, pale skin. In extreme cases, myxedema coma can occur, leading to hypotension, bradycardia, hypothermia, and respiratory depression.
Therapy: Synthetic levothyroxine.
Cretinism has become less common due to the widespread inclusion of iodine to diets and screening of neonates for hypothyroidism.
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Pathology - Graves Disease
Resulting from the production of thyroid-stimulating immunoglobulin and thyroid growth immunoglobulin.
Prevalent in women between the ages of 20 and 40, as well as in individuals who test positive for HLA-DR3 and HLA-B8.
Thyroid-stimulating immunoglobulin binds to TSH receptors on thyroid follicles, leading to the stimulation of thyroid hormone synthesis. Thyroid growth immunoglobulin also induces glandular hyperplasia and hypertrophy.
Study of diseases
Enlargement of the thyroid gland in a symmetrical manner.
Microscopic findings include hypercellularity with tiny, closely packed follicles containing minimal colloid. The interstitium may show infiltration of lymphocytes.
Clinical Symptoms
Symptoms of hyperthyroidism include exophthalmos (protrusion of the eyes), thicker edematous nodules on lower extremities, and a bruit around the thyroid gland.
Imaging: A radioactive iodine scan will show a widespread increase in absorption.
Laboratory results: Decreased TSH; elevated free T4 and free T3 levels.
Therapy
Treatment options include radioactive iodine, antithyroid medications such as propylthiouracil to limit thyroid hormone synthesis, thyroidectomy, and the use of beta-blockers like propranolol to manage tachycardia.
Resulting from the production of thyroid-stimulating immunoglobulin and thyroid growth immunoglobulin.
Prevalent in women between the ages of 20 and 40, as well as in individuals who test positive for HLA-DR3 and HLA-B8.
Thyroid-stimulating immunoglobulin binds to TSH receptors on thyroid follicles, leading to the stimulation of thyroid hormone synthesis. Thyroid growth immunoglobulin also induces glandular hyperplasia and hypertrophy.
Study of diseases
Enlargement of the thyroid gland in a symmetrical manner.
Microscopic findings include hypercellularity with tiny, closely packed follicles containing minimal colloid. The interstitium may show infiltration of lymphocytes.
Clinical Symptoms
Symptoms of hyperthyroidism include exophthalmos (protrusion of the eyes), thicker edematous nodules on lower extremities, and a bruit around the thyroid gland.
Imaging: A radioactive iodine scan will show a widespread increase in absorption.
Laboratory results: Decreased TSH; elevated free T4 and free T3 levels.
Therapy
Treatment options include radioactive iodine, antithyroid medications such as propylthiouracil to limit thyroid hormone synthesis, thyroidectomy, and the use of beta-blockers like propranolol to manage tachycardia.
