Endocrine Flashcards
Hyperinsulinism Diagnostic criteria
Insulin level >2 mIU/mL
B-hydroxybutyrate level <1.8 mmol/L
Free Fatty acid level <1.7 mmol/L
Glucose rise >30 mg/dL after glucagon admin
PKU
most common inborn error of amino acid metabolism is PKU; an autosomal recessive disorder from dificiency of phenylalanine hydroxylase, required to convert phenylalanine to tyrosine
tyrosine required for dopamine synthesis
Serum Calcium
regulated by parathyroid horomone and 1,23 dihydroxyvitamin D (calcitrol) which increases serum Calcium and by calcitonin, which decreases it
Effect of alkalosis on ionized calcium
alkalosis decreases iCal levels by increasing albumin’s affinity for calcium
parathyroid gland secretes __________ which ____________________ calcium and phosphorous from _______________.
parathyroid gland secretes PTH which mobilized calcium and phosphorous from Bone and stimulates reabsorption in kidneys
The thyroid secretes _____________ in response to elevated Calcium levels, which _______________ renal secretion
thyroid secretes calcitonin in response to elevated calcium, which increases renal secretion.
Early hypocalcemia causes (day 1-3)
IDM, asphyxia, IUGR, prematurity
Late hypocalcemia (day 3-5)
r/t high phosphate load, maternal vitamin D deficiency, congenital hypoparathyroidism, DiGeorge, Maternal Hyperparathyroidism
Hypercalcemia causes
Mutations with hyperparathyroidism, Williams syndrome, subcutaneous fat necrosis, increase intake of calcium or vitamin D, or decreased phos intake
Hypomagnesia
uncommon but may be associated with hypocalcemia
Common cause of hyperphosphatemia
usually r/t hypocalcemia
Thyroid embryogenesis usually complete by
10-12 weeks
Maternal TSH ________ cross placenta, but Maternal TRH __________.
Maternal TSH - doesnt cross; TRH does
Thyrotropin
stimulates thyroid to release T4 which is converted to T3 to stimulate metabolism
Congenital hypothyroidism (causes)
thyroid dysgensis, maternal antithyroid meds, inborn errors or thyroid hormone synthesis, or iodine deficiency (cretinism)
Symptoms of Congenital Hypothyroidism
constipation, hypothermia, poor tone, prolonged jaundice, Large Toungue, large anterior or posterior fontanelle, periorbital edema, hoarse cry, goiter
The most preventable cause of intellectual disability
Congenital Hypothyroidism
Hyperthyroidism causes
rare, but most are born to mothers with graves disease, which results in transplacental transfer of TSH-receptor antibodies
Symptoms of hyperthyroidism
prematurity, IUGR, tremors, poor weight gain, weight loss, exopthalmos, craniosynostosis, SVT, poor growth
Cushing’s
an excess of cortisol from tumor
Addison’s disease
primary adrenal insufficiency
Congenital Adrenal Hyperplasia
a defect in one of the hormones that is responsible for converting cholesterol to cortisol leading to increased levels of ACTH and decreased levels of cortisol
CAH most common type
21-hydroxylase enzyme deficiency
CAH in females
results in overproduction of androgens prior to enzyme block which results in overvirulization of external female genitalia but normal internal organs - ambiguous male appearing genitalia
CAH in males
Increased androgens are insignificant so they have normal appearing genitalia
CAH in severe form leads to ___________ and ___________
hypoaldosteronism - renal salt wasting and impaired potassium and H+ excretion leading to hyponatremia, hyperkalemia, and metabolic acidosis
hypocortisolemia - cardio, metabolic, and other system impairments including the renin-angiotensin axis leading to hypoglycemia and SHOCK
“stale, mousy odor”
PKU
“rancid, sulfur smells, cabbage smell”
Tyrosinemia
Urea Cycle Disorder presentation
Respiratory Alkalosis, Hyperammonemia
Organic Acidemias (methylmalonic acidemia, propionic acidemia, ect.)
Metabolic Acidosis with high anion gap, hyperammonemia, Inappropriately high urine ketones
Aminoacidopathies (PKU, tyrosonemia ect)
Normal acid base status, HIGH ketones
Disorders of carb metabolism (galactosemia, ect)
Hypoglycemia, + Ketones
Lipid Defects (carnitine dificiency, Medium Chain Acyl CoA Dehydrogenase)
hypoglycemia, LOW ketones
Mitochondrial Disorders
Lactic Acidosis, Ketones
