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Endocrine UW
Glyburide and Glipizide (2nd Generation Sulfonylureas)
Mechanisms
2nd Generation Sulfonylureas
Blocks Potassium Channels in Beta Cells
Stimulate Release of Insulin
Indications
Type 2 Diabetes
Side Effects
Hypoglycemia
Considerations
More Potent
Beta Blockers Reduce Effects
Avoid Alcohol
Avoid Breastfeeding
2 mins
MEN 1 (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
Menin Mutation (Tumor Suppression Gene)
Chromosome 11
Signs and Symptoms
Pancreatic Endocrine Tumors
Pituitary Tumors
Parathyroid Adenomas
2 mins
MEN 2A (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
RET Gene
Signs and Symptoms
Medullary Thyroid carcinoma
Calcitonin
Parathyroid
Pheochromocytoma
45 secs
MEN 2B (Multiple Endocrine Neoplasia)
Pathophysiology
RET Gene
Autosomal Dominant
Signs and Symptoms
Medullary Thyroid Carcinoma
Pheochromocytoma
Mucosal Neuromas
Marfanoid Body Habitus
2 mins
Hypoglycemia Symptoms
Mediators of Response
Epinephrine/Norepinephrine from SNS
Glucagon
Growth hormone
Cortisol
Neurogenic Symptoms
Neurogenic Symptoms
Mediated by postganglionic sympathetic release of Epi/Norepi, ACh
Epi/Norepi--> Tremor, anxiety, palpitations
ACh-->Sweating
ACh--> Hunger
Parasthesias
Neuroglycopenic Symptoms
Neuroglycopenic symptoms
Delerium
Visual Changes
Epi/Norepi symptoms blocked by nonselective beta blockers
Nonselective Beta-Blockers
"-olol" Suffix
Nonselective
Propranolol
Timolol
Nadolol
Partial β Agonist
Pindolol
Nonselective β with α Blocking
Carvedilol
Labetalol
2 mins
Vitamin D Deficiency
Signs & Symptoms
Rickets in children
Bending bones
Rachitic rosary
Breast milk has decreased vitamin D
Osteomalacia in adults
Tetany from Hypocalcemia
2 mins
Celiac Disease Diagnosis and Treatment
Diagnosis
Blunting of Intestinal Villi
Lymphocytes in Lamina Propria
Anti-gliadin Antibodies (IgA)
Anti-endomysial Antibodies (IgA)
Anti-tissue Transglutaminase Antibodies (IgA)
Treatment
Gluten-Free Diet
Corticosteroids
Dapsone
Complications
Intestinal Lymphoma
2 mins
Celiac Disease Characteristics
Epidemiology
European Descent
HLA-DQ2
HLA-DQ8
Pathophysiology
Autoimmune-mediated Intolerance of Gliadin
Symptoms
Dermatitis Herpetiformis
Weight Loss
Failure to Thrive
Decreased Bone Density
Steatorrhea
Anemia
2 mins
21 Hydroxylase Deficiency
Pathophysiology
Decreased Cortisol
Increased 17 Hydroxyprogesterone
Decreased Aldosterone
Signs and Symptoms
Hypotension
Increased Renin
Hyperkalemia
Female Pseudohermaphroditism
2 mins
11 Beta-Hydroxylase Deficiency
Pathophysiology
Decreased Cortisol
Decreased Aldosterone
Increased Sex Hormones
Increased 11 Deoxycorticosterone (11 DOC)
Signs and Symptoms
Hypertension
Masculinization
1 min
17 Alpha Hydroxylase Deficiency
Decreased Cortisol
Decreased Sex Hormones
Increased Mineralocorticoids (DOC)
Hypertension
Hypokalemia
XY Externally Phenotypic Female
No Internal Reproductive Structures Due to Mullerian Inhibitory Factor
XX Externally Phenotypic Female
Sexual Infantilism
2 mins
Von Gierke Disease
Pathophysiology
Autosomal Recessive
Type I Glycogen Storage Disease
Glucose-6-Phosphatase Deficiency
Signs and Symptoms
Increased Glycogen in Liver
Hepatomegaly
Enlarged Kidneys
Severe Fasting Hypoglycemia
Increased Triglycerides
Increased Uric Acid (Gout)
Increased Lactic Acid
Doll-like Facies
Treatment
Continuous Oral Glucose (or Cornstarch)
Avoid Fructose and Galactose
2 mins
Cori Disease
Pathophysiology
Type III Glycogen Storage Disease
Deficiency of Alpha 1, 6 Glucosidase
Debranching Enzyme
Limit-Dextrin Accumulation (In Cytosolic Structures)
Signs and Symptoms
Hypoglycemia
Muscle Weakness
Hypotonia
Stunted Growth
Hepatomegaly
Diagnosis
Normal Blood Lactic Acid Levels
Gluconeogenesis Intact
Increased LFT's
Increased Creatine Kinase (CK/CPK)
Treatment
Continuous Feeding
High Protein Diet
Cornstarch (Uncooked)
4 mins
McArdles Disease
Pathophysiology
Type V Glycogen Storage Disease
Muscle Glycogen Phosphorylase Deficiency
Signs and Symptoms
Increased Glycogen in Muscle
Painful Muscle Cramps
Myoglobinuria
Normal Lactic Acid
Treatment
Vitamin B6
2 mins
Propylthiouracil (PTU) and Methimazole (MMI)
Indications
Hyperthyroidism
Mechanism
Inhibits Thyroid Peroxidase
PTU Blocks Peripheral Conversion of T4 to T3
Side Effects
Agranulocytosis
Skin Rash
Hepatotoxicity (PTU)
Teratogen (MMI)
1 min
Congenital Hypothyroidism (Cretinism)
Cause
Thryoid dysgenesis
The 6 P's of congenital hypothyroidism
6 P's
Poor brain development
Pot-bellied
Pale
Puffy face
Protruding Umbilicus
Protuberant Tongue
Phenylketonuria (PKU)
Pathophysiology
Decreased Phenylalanine Hydroxylase
Decreased Tetrahydrobiopterin Cofactor
Autosomal Recessive
Tyrosine Becomes Essential
Phenylalanine Found in Nutrasweet
Symptoms
Musty or Mousy Body Odor
Growth Retardation
Seizures
Intellectual Disability
Hypopigmentation
2 mins
Congenital hypothyroidism (cretinism)
Severe fetal hypothyroidism
causes
Maternal hypothyroidism
Thyroid agenesis
Thyroid dysgenesis (most common cause in US and developed countries)
Iodine deficiency (Most common cause in the rest of the world)
Dyshormonogenetic goiter
Findings
Pot-bellied, Pale, Puffy-faced child with Protruding umbilicus, Protuberant tongue, and Poor brain development
Cataract
Mechanism
Age-related
Assessment
No Pain
Cloudy Opaque Lens
Decreased Visual Acuity
Occurs Gradually
Treatment
Surgery
1 min
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