Endocrine: Pathoma, BRS, FA Flashcards
Benign tumor of anterior pituitary cells
Pituitary Adenoma
May be functional (Hormone-producing) or non-functional
Pituitary Adenoma
The nonfunctional version of this presents with mass effect.
Pituitary Adenoma
Presents with bitemporal hemianopsia due to compression of optic chiasm
Non-functional Pituitary Adenoma
Presents with hypopituitarism due to compression
Non-functional Pituitary Adenoma
Presents as galactorrhea and amenorrhea in females
Prolactinoma
Presents as decreased libido and headache in males
Prolactinoma
Most common pituitary adenoma type
Prolactinoma
Treatment is dopamine agonists
Prolactinoma
Stains chromophobic
Prolactinoma
Tumor with hypersecretion of growth hormone
Somatotropic adenoma
Presents as gigantism in children with increased linear bone growth
Somatotropic adenoma
Presents as acromegaly in adults (enlarged bones of hands, feet and jaw) and growth of visceral organs
Somatotropic adenoma
Cardiac failure most common cause of death
Somatotropic adenoma
Presents with enlarged tongue
Somatotropic adenoma
Staining is acidophilic
Somatotropic adenoma
Results in increased IGF-1 and somatomedin C
Somatotropic adenoma
Secondary diabetes mellitus is often seen
Somatotropic adenoma
Diagnosed by high GH and IGF-1 levels along with lack of GH suppression by oral glucose
Somatotropic adenoma
Treatment is octreotide, GH receptor antagonists or surgery
Somatotropic adenoma
Tumor secreting ACTH leading to Cushing syndrome
ACTH cell adenoma
Insufficient production of hormones by the anterior pituitary gland
Hypopituitarism
Symptoms arise with 75% of parenchyma is lost
Hypopituitarism
Generalized pan-hypopituitarism
Pituitary Cachexia - Simmonds Disease
Caused by pituitary tumors (adults - adenomas and children - craniopharyngioma) and Sheehan Syndrome
Pituitary Cachexia - Simmonds Disease
Pregnancy related infarction of pituitary gland
Sheehan Syndrome
Gland doubles in size during pregnancy but blooo supply does not increase.
Sheehan Syndrome
Presents as poor lactation, loss of pubic hair, and fatigue
Sheehan Syndrome
Congenital defect of the sella
Empty Sella Syndrome
Herniation of the arachnoid and CSF into the sella compresses pituitary gland
Empty Sella Syndrome
Results in growth retardation (dwarfish) in children
Growth Hormone Deficiency
Results in increased insulin sensitivity (hypoglycemia), weakness, and anemia in adults
Growth Hormone Deficiency
Results in retarded sexual maturation in children
Gonadotropin Deficiency
Results in loss of libido, impotence, loss of muscle & facial hair in men, and amenorrhea and vaginal atrophy in women
Gonadotropin Deficiency
Results in secondary hypothyroidism
TSH Deficiency
Results in secondary adrenal failure
ACTH Deficiency
ADH deficiency
Central Diabetes Insipidus
Due to hypothalamic or posterior pituitary pathology
Central Diabetes Insipidus
Signs and symptoms all due to loss of free water
Central Diabetes Insipidus
Presents with polyuria, polydipsia, hypernatremia, and low urine osmolality
Central Diabetes Insipidus
Water deprivation test fails to increase urine osmolality
Central Diabetes Insipidus
Treatment is desmopressin
Central Diabetes Insipidus
Impaired renal response to ADH
Nephrogenic Diabetes Insipidus
Due to inherited mutation to ADH receptor or drugs such as lithium
Nephrogenic Diabetes Insipidus
Presents with polyuria, polydipsia, hypernatremia, and low urine osmolality
Nephrogenic Diabetes Insipidus
No response to desmopressin
Nephrogenic Diabetes Insipidus
Normal ADH levels
Nephrogenic Diabetes Insipidus
Water deprivation test fails to increase urine osmolality
Nephrogenic Diabetes Insipidus
Due to excessive ADH secretion
Syndrome of Inappropriate ADH Secretion
Most often due to ectopic production especially small cell carcinoma of the lung
Syndrome of Inappropriate ADH Secretion
Clinical features are based on retention of free water
Syndrome of Inappropriate ADH Secretion
Presents with hyponatremia and low serum osmolality
Syndrome of Inappropriate ADH Secretion
Presents with mental status changes, seizures and cerebral edema
Syndrome of Inappropriate ADH Secretion
Treatment is free water restriction, demeclocycline, conivaptan, tolvaptan
Syndrome of Inappropriate ADH Secretion
Serum aldosterone is low
Syndrome of Inappropriate ADH Secretion
Development of large pituitary adenomas following bilateral adrenalectomy due to loss of feeback inhibition on growth of pre-existing pituitary microadenomas
Nelson Syndrome
Cystic dilatation of thyroglossal duct remnant
Thyroglossal Duct Cyst
Presents as anterior neck mass
Thyroglossal Duct Cyst
Most common thyroid congenital anomaly
Thyroglossal Duct Cyst
Persistence of thyroid tissue at base of tongue
Lingual Thyroid
Presents as base of tongue mass
Lingual Thyroid
Increased level of circulating thyroid hormone
Hyperthyroidism
Presents with increase in basal metabolic rate (increased ATPase synthesis)
Hyperthyroidism
Presents with increase symapthetic nervous system activity (Increased Beta1-receptors)
Hyperthyroidism
Autoantibody IgG stimulates TSH receptor (Type II HS)
Graves Disease
Most common cause of hyperthyroidism
Graves Disease
Presents most commonly in women of childbearing age (20-40)
Graves Disease
Increased incidence in HLA-DR3 and HLA-B8 positive individuals
Graves Disease
Presents with a diffuse goiter
Graves Disease
Presents with exophthalmos and pretibial myxedema due to TSH receptors in orbit and shin that produce glycosaminoglycan
Graves Disease
Irregular follicles with scalloped colloid seen on histology
Graves Disease
Lab findings: Increased total and free T4 with Hypocholesterolemia, Increased serum glucose
decreased TSH
Graves Disease
Fatal complication of Grave’s Disease
Thyroid Storm
Due to elevated catecholamines and massive hormone excess in response to stress.
Thyroid Storm
Presents as arrhythmia, hyperthermia, and vomiting with hypovolemic shock
Thyroid Storm
Treat with 3 P’s: Propranolol, Propylthiouracil, and Prednisolone
Thyroid Storm
Combination of hyperthryoidism, nodular goiter, and absence of exophthalmos
Plummer Disease
Teratoma made up of thyroid tissue
Struma ovarii
Due to relative iodine deficiency
Multinodular Goiter
Nontoxic, but can become TSH-independent over time.
Multinodular Goiter
Follicular cells working independent of TSH due to mutation in TSH receptor
Toxic Multinodular Goiter
Increased release of T3 and T4
Toxic Multinodular Goiter
Thyrotoxicosis if a patient with iodine deficiency goiter is made iodine replete
Jod-Basedow Phenomenon
Hypothyroidism in neonates and infants
Cretinism
Presents as 6 P’s: Pot-bellied, Pale, Puffy face, Protruding umbilicus, Protuberant tongue, and Poor Brain development
Cretinism
Causes: Maternal hypothyroidsm during pregnancy, thyroid agenesis, dyshormonogenetic goiter, and iodine deficiency
Cretinism
Most common cause in US is thyroid dysgenesis
Cretinism
Congenital defect in thyroid hormone production, usually with thyroid peroxidase
Dyshormonogenetic goiter
Hypothyroidism in older children or adults
Myxedema
Presents with myxedema, weight gain, cold intolerance, slow mentally
Myxedema
Common causes: Iodine deficiency, Hashimoto Thyroiditis, therapy for hyperthyroidism, and primary idiopathic
Myxedema
Decreased serum free T4 & T3. Increased serum TSH. Hypercholesterolemia
Hypothyroidism
Most common cause of hypothyroidism in regions with normal iodine nutrition
Hashimoto Thyroiditis
Autoimmune destruction of thyroid gland associated with HLA-DR5
Hashimoto Thyroiditis
Initially presents as hyperthyroidism due to follicle damage
Hashimoto Thyroiditis
Anti-TSH-R, Anti-thyroglobulin and antithyroid peroxidase antibodies are often present
Hashimoto Thyroiditis
Chronic inflammation with germinal centers and Hurthle cells are seen
Hashimoto Thyroiditis
Increased risk for B-Cell (Marginal zone) Lymphoma
Hashimoto Thyroiditis
Finding: Nontender but enlarged thyroid
Hashimoto Thyroiditis
Follows a viral infection
Subacute Granulomatous Thyroiditis (De Quervain)
Presents as tender thyroid with transient hyperthyroidism
Subacute Granulomatous Thyroiditis (De Quervain)
Self-limited hypothyroidism is seen
Subacute Granulomatous Thyroiditis (De Quervain)
More common in women
Subacute Granulomatous Thyroiditis (De Quervain)
Chronic inflammation with extensive fibrosis of thyroid gland
Reidel Fibrosing Thyroiditis
Presents as hypothyroidism with ‘hard as wood’ non tender thyroid gland
Reidel Fibrosing Thyroiditis
Fibrosis may extend to local structures such as an airway
Reidel Fibrosing Thyroiditis
Manifestation of IgG4-related systemic disease
Reidel Fibrosing Thyroiditis
Clinically mimics anaplastic carcinoma, but patients are younger with this and malignant cells are absent.
Reidel Fibrosing Thyroiditis
Benign proliferation of follicles surrounded by a fibrous capsule
Follicular Adenoma
Nonfunctional usually but can secrete thyroid hormone
Follicular Adenoma
Most common type of thyroid carcinoma
Papillary Carcinoma
Exposure to ionizing radiation in childhood is a major risk factor
Papillary Carcinoma
Comprised of papillae lined by cells with clear “Orphan-Annie eye” or “Ground-glass” nuclei and nuclear grooves.
Papillary Carcinoma
Often associated with psammoma bodies
Papillary Carcinoma
Often spreads to cervical lymph nodes, but prognosis is excellent
Papillary Carcinoma
Associated with a change in chromosome 10 forming a RET-PTC fusion gene that acts as tyrosine kinase
Papillary Carcinoma
Associated with mutations in B-type Ras Kinase (BRAF)
Papillary Carcinoma
Malignant proliferation of follicles (uniformly shaped) surrounded by a fibrous capsule with invasion through the capsule
Follicular Carcinoma
Cannot be distinguished from follicular adenoma by FNA
Follicular Carcinoma
Metastasis through the blood
Follicular Carcinoma
Prognosis is good but not as good as papillary carcinoma
Follicular Carcinoma
Malignant proliferation of parafollicular C Cells
Medullary Carcinoma
Results in high levels of Calcitonin being produced causing hypocalcemia
Medullary Carcinoma
Biopsy reveals sheets of malignant cells in an amyloid stroma
Medullary Carcinoma
Familial cases are due to multiple endocrine neoplasia 2A and 2B
Medullary Carcinoma
Associated with medullary carcinoma, pheochromocytoma and parathyroid adenomas
Multiple Endocrine Neoplasia 2A
Associated with medullary carcinoma, pheochromocytoma, and ganglioneuromas of oral mucosa
Multiple Endocrine Neoplasia 2B
Sporadic and familial forms are both associated with RET oncogene mutation
Medullary Carcinoma
Undifferentiated malignant tumor thyroid in elderly
Anaplastic Carcinoma
Often invades structures leading to dysphagia or respiratory compromise
Anaplastic Carcinoma
Poor prognosis.
Anaplastic Carcinoma
Excess PTH due to a disorder of a parthyroid gland
Primary Hyperparathyroidism
Most common cause is a parathyroid adenoma
Primary Hyperparathyroidism
SPoradic parathyroid hyperplasia and parathyroid carcinoma are less common causes
Primary Hyperparathyroidism
MOst often presents as asymptomatic hypercalcemia
Primary Hyperparathyroidism
Can also present with groans (constipation), stones (hypercalciuria), bones (osteitis fibrosa cystica), and psychiatric overtones (depression)
Primary Hyperparathyroidism
Lab findings: Increased PTH, increased serum calcium, decrease serum phosphate, increase urinary cAMP, and increase serum alkaline phosphatase
Primary Hyperparathyroidism
Also will present with ab or flank pain due to kidney stones or acute pancreatitis and also peptic ulcers
Primary Hyperparathyroidism
Cystic bone spaces filled with brown fibrous tissue
Osteitis fibrosa cystica
Also known as Von Recklinghausen disease of bone
Osteitis fibrosa cystica
Excess production of PTH due to a disease process extrinci to parathyroid gland
Secondary Hyperparathyroidism
Most common cause is chronic renal failure
Secondary Hyperparathyroidism
Lab findings: Increased PTH, decreased serum calcium, increased serum phosphate, and increase alkaline phosphatase.
Secondary Hyperparathyroidism
This occurs in spite of correction of hypocalcemia and pre-existing secondary hyperparathyroidism from chronic renal disease
Tertiary Hyperparathyroidism
Lab findings: Extremely high PTH and increased Calcium
Tertiary Hyperparathyroidism
Cause is development of an adenoma in a previously hyperplastic gland
Tertiary Hyperparathyroidism
Impaired hydroxylation of 25-hydroxycholecalciferol
Vitamin D-dependent rickets
Decreased absorption of calcium and increased PTH secretion
Vitamin D-dependent rickets
Causes include autoimmune damage, surgical excision, and DiGeorge Syndrome
Hypoparathyroidism
Findings: Muscle spasms when using blood pressure cuff (Trousseau sign) or tapping on facial nerve (Chvostek sign)
Hypoparathyroidism
Labs reveal decreased PTH and decrease serum calcium
Hypoparathyroidism
Also known as Albright Hereditary Osteodystrophy
Pseudohypoparathyroidism
Autosomal dominant unresponsiveness of kidney to PTH
Pseudohypoparathyroidism
Findings: Shortened fourth and fifth metacarpals and metatarsals, short stature, and hypocalcemia
Pseudohypoparathyroidism
Due to a mutation in GNAS1 that encodes G proteins that respond to hormones
Pseudohypoparathyroidism
Selective paternal imprinting results in a mother passing on a mutated GNAS1 to her offspring
Pseudohypoparathyroidism
Skeletal abnormalities without hormone dysfunction due to transmission of mutant paternal GNAS1 allele
Pseudopseudohypoparathyroidism
Excess Cortisol
Cushing Syndrome
Findings: Muscle weakness, moon facies, buffalo hump, and truncal obesity, abdominal striae, osteoporosis, hypertension, hyperglycemia
Cushing Syndrome
Causes: Exogenous corticosteroids (bilateral adrenal atrophy), primary adrenal tumor, ACTH-secreting tumor (bilateral adrenal hyperplasia), and paraneo-plastic ACTH secretion (bilateral adrenal hyperplasia)
Cushing Syndrome
When caused by a adrenal tumor, this can’t be suppressed by exogenous adrenal steroids
Cushing Syndrome
When caused by a pituitary tumor, this can be suppressed by exogenous adrenal steroids
Cushing Syndrome
Hypercorticism due to a corticotropic adenoma of pituitary or multiple very small pituitary adenomas.
Cushing Disease
Excess Aldosterone
Hyperaldosteronism
Presents as hypertension due to sodium retention, hypkalemia,a nd metabolic alkalosis
Hyperaldosteronism
Aldosterone Secreting Adrenal Adenoma
Conn Syndrome
Most commonly due to sporadic adrenal hyperplasia. But also can be caused by adrenal adenoma (aldosteronoma) and adrenal carcinoma
Primary Hyperaldosteronism
Characterized by high aldosterone and low renin
Primary Hyperaldosteronism
Seen in activation of RAS due to CHF or renovascular hypertension
Secondary Hyperaldosteronism
Characterized by high aldosterone and high renin
Secondary Hyperaldosteronism
Excess specific adrenal hormones with bilateral adrenal hyperplasia
Congenital Adrenal Hyperplasia
Deficiency in cortisol and mineralcorticoids with an increase in sex hormones.
21-hydroxylase Congenital Adrenal Hyperplasia
Presents with hypotension and hyperkalemia and clitoral enlargement or precocious puberty
21-hydroxylase Congenital Adrenal Hyperplasia
Presents with increased mineralocorticoids and decreased cortisol and decreased sex hormones
17-alpha-hydroxylase Congenital Adrenal Hyperplasia
Presents with hypertension and Hypokalemia
17-alpha-hydroxylase Congenital Adrenal Hyperplasia
Presents with low-renin hypertension
11-Beta-hydroxylase Congenital Adrenal Hyperplasia
Presents with decreased aldosterone and cortisol, but an increase in aldosterone pre-cursors causing hypertension
11-Beta-hydroxylase Congenital Adrenal Hyperplasia
Functional and are components of MEN1, Carney Complex, and McCune-Albright Syndrome
Adrenocortical Adenoma
Functional and associated with Li Fraumeni and Beckwith-Wiedemann syndrome
Adrenocortical Carcinomas
Lack of adrenal hormones
Adrenal Insufficiency
Acute insufficiency of adrenal hormones
Waterhouse-Friderichsen Syndrome
Hemorrhagic necrosis of adrenal glands due to DIC in young children with N meningitidis infection (meningococcemia)
Waterhouse-Friderichsen Syndrome
Lack of cortisol exacerbates hypotension leading to death
Waterhouse-Friderichsen Syndrome
Progressive destruction of adrenal glands resulting in chronic insufficiency of adrenal hormones
Addison disease
Caused by autoimmune destruction most commonly in the West
Addison disease
Caused by TB most commonly in the developing world
Addison disease
Can be caused by metastatic carcinoma or infections
Addison disease
Clinical features: hypotension, hyponatremia, hypovolemia, hyperkalemia, weakness, and hyperpigmentation
Addison disease
Increased ACTH and MSH
Addison disease
Most common tumor adrenal medulla in children
Neuroblastoma
Originates from neural crest cells
Neuroblastoma
Presents as abdominal distention with firm, irregular mass that can cross the midline.
Neuroblastoma
Presents with Homovanillic acid in the urine
Neuroblastoma
Bombesin positive
Neuroblastoma
Associated with overexpression of M-Myc oncogene
Neuroblastoma
Tumor of chromaffin cells
Pheochromocytoma
Clinical features due to increased catecholamines: Hypertension, headache, palpitations, tachycardia and sweating
Pheochromocytoma
Diagnosed by increased serum metanphrines and increased 24-hour urine metanephrines and vanillylmandelic acid.
Pheochromocytoma
Rule of 10%’s: 10% malignant, 10% bilateral, 10% extra-adrenal, 10% calcify, 10% kids
Pheochromocytoma
Most common tumor of renal medulla in adults
Pheochromocytoma
Phenoxybenzamine is administered perioperatively to prevent hypertensive crisis
Pheochromocytoma
Insulin deficiency leading to a metabolic disorder characterized by hyperglycemia
Type 1 Diabetes Mellitus
Due to autoimmune destruction of beta cells by T lymphocytes
Type 1 Diabetes Mellitus
Characterized by inflammation of islets
Type 1 Diabetes Mellitus
Associated with HLA-DR3 and HLA-DR4
Type 1 Diabetes Mellitus
Manifests in childhood
Type 1 Diabetes Mellitus
Signs: High serum glucose, weight loss, low muscle mass, polyphagia, polyuria, polydipsia, glycosuria
Type 1 Diabetes Mellitus
Risk for ketoacidosis characterized by excessive serum ketones
Type 1 Diabetes Mellitus
Arises with stress in which glucagon release causes increased lipolysis to increase FFA’s which are turned into ketone bodies
Diabetic Ketoacidosis
Results in hypoglycemia, anion gap metabolic acidosis, and hyperkalemia
Diabetic Ketoacidosis
Presents with Kussmaul respirations, dehydration, flu-like, and fruity smelling breath.
Diabetic Ketoacidosis
Insulin treatment is always necessary
Type 1 Diabetes Mellitus
Severe glucose intolerance but high insulin sensitivity
Type 1 Diabetes Mellitus
End-organ insulin resistance leading to a metabolic disorder characterized by hyperglycemia
Type 2 Diabetes Mellitus
Most common type of diabetes
Type 2 Diabetes Mellitus
Arises in middle-aged obese adults (obesity decreases receptors)
Type 2 Diabetes Mellitus
Strong genetic pre-disposition exists
Type 2 Diabetes Mellitus
Insulin levels are increased early, but later due to beta-islet cell exhaustion, will be decreased
Type 2 Diabetes Mellitus
Amyloid (amylin) deposition in islets.
Type 2 Diabetes Mellitus
Low glucose intolerance and low insulin sensitivity
Type 2 Diabetes Mellitus
Risk for hyperosmolar non-ketotic coma (super high glucose)
Type 2 Diabetes Mellitus
Autosomal dominant syndrome characterized by mild hypglycemia and hyposecretion of insulin bu no loss of beta cells
Maturity-Onset Diabetes Mellitus of the Young
Insulitis marked by lymphocytic infiltration
Type 1 Diabetes Mellitus
Nonenzymatic glycosylation of large vessel vascular basement membranes leads to atherosclerosis
Diabetes
Nonenzymatic glycosylation of small vessel vascular basement membranes leads to hyaline arteriolosclerosis
Diabetes
Preferential involvement of efferent arterioles leads to glomerular hyperfiltration injury that progresses to nephrotic syndrome (Kimmelstiel-Wilson nodules)
Diabetes
Cataract formation, peripheral neuropathy, xanthomas, and abscesses are common
Diabetes
Component of MEN1 along with parathyroid hyperplasia and pituitary adenomas
Islet Cell Tumor
Present as episodic hypoglycemia with mental status changes that are relieved by administration of glucose (Whipple triad)
Insulinoma
Diagnosed by decreased serum glucose levels, increased insulin, and increased C-peptide
Insulinoma
Present as treatment resistant peptic ulcers that extend to duodenum and jejunum.
Gastrinoma
Known as Zollinger-Ellison syndrome
Gastrinoma
Known as an alpha cell tumor
Glucagonoma
Results in secondary diabetes mellitus
Glucagonoma
Causes skin lesion called necrolytic migratory erythema
Glucagonoma
Endocrine tumor marked by secretion of vasoactiv eintestinal peptide
VIPoma
Associated with “Watery diarrhea, Hypokalemia, and Achlorhydria (WDHA)”
VIPoma
Also known Verner-Morrison syndrome or pancreatic cholera
VIPoma
Also known as Wermer Syndrome
Multiple Endocrine Neoplasia 1
Hyperplasias or tumors of pituitary, parathyroid, or pancreatic islets (3P’s)
Multiple Endocrine Neoplasia 1
Pancreatic portion presents as Zollinger-Ellison, hyperinsulinism, or pancreatic cholera
Multiple Endocrine Neoplasia 1
Linked to mutations in MEN I gene
Multiple Endocrine Neoplasia 1
Commonly presents with kidney stones and stomach ulcers
Multiple Endocrine Neoplasia 1
Known as Sipple Syndrome
Multiple Endocrine Neoplasia 2A
Presents with Parathyroid hyperplasia and Pheochromocytoma (2P’s) Also includes medullary thyroid carcinoma
Multiple Endocrine Neoplasia 2A
Linked to mutations in ret oncogene
Multiple Endocrine Neoplasia 2A
Pheochromocytoma (1P) and also medullary thyroid carcinoma and mucosal neuromas.
Multiple Endocrine Neoplasia 2B
Linked to mutations in ret oncogene
Multiple Endocrine Neoplasia 2B
