Endo/Metabolism Lectures Flashcards
3 types of GH deficiency?
Congenital (birthing process issue)
Acuqired (infection, autoimmune, tumor etc)
Idiopathic
Possible jaundice
Hypoglycemia
GnRH deficiency
Sexual organ developmental issue
..what type of GH decrease?
Congenital
Severe growth failure
Decreased bone age
Infantile/doll like appearance
Infantile voice
Delayed puberty
Acquired GH deficiency
Thick tongue
Hypotonia
Hypothermia
Bradycardia
Large fontanel’s
Constipation
Hoarse cry
Umbilical hernia
Dry skin
Congenital hypothryoidism
Hashimoto thyroiditis causes…
acquired hypothyroidism
Anti-TPO antibody titer will confirm what dx?
Hashimoto thyroiditis
Tachycardia
Tremor
Exopthalmos
brisk DTR
Accelerated growth
often caused by Graves
Hyperthyroidism
Thyroid stimulating Immunoglobulin (TSI) can confirm what dx?
Graves
Beta blockers
PTU, Methimazole
Radiation therapy
Surgery
tx for?
Hyperthyroidism
Mobilizes Ca from bone
increases renal resorption Ca++
incr PO4 excretion
increases renal Vit D secretion
Parathyroid Hormone (PTH)
What does calcitonin do to bone deposition of Ca?
Increased bone deposition of Ca
What increased intestinal absorption of Ca?
Vitamin D
MAJOR goal of treating DKA?
Hydration and electrolyte correction!!
What levels must you check before giving insulin?
Potassium
A softening of bones in kids due to inadequate vitamin D
Rickets
Presents with hypocalcemia
(ie Trousseus, Chovstek signs)
Hypoparathyroidism
Central obesity: waist circumference>88cm (40”) in women, >102 (46”) cm in men.
Hyperglycemia: FBS ≥110 mg/dL.
Hypertension: BP ≥ 135/85.
↑trig: ≥ 150 mg/dL.
↓HDL: ≤40 mg/dL for men, ≤50 mg/dL for women
Metabolic syndrome
Autosomal recessive
deficiency of 21 alpha hydroxylase
Severe (ambiguous genitalia bc increased androgens)
Moderate (percocious pubic hair, clitomegaly)
Mild (presents later, amenorrhea, hirsutism, infertile)
Congenital Adrenal Hyperplasia (CAH)
Insufficiency in pathway of aldosterone and/or cortisol
due to 21 alpha hydroxylase deficiency
Congenital adrenal hyperplasia (CAH)
Feminization of sex organs
Infertilities of males
Can be complete, partial or mild
Androgen insensitivity
Male but born with external female genitalia
testes fxn properly, but in abdomen
no ovaries or uterus
well developed breast
generally find out later in life when no menstrual period
complete androgen insensitivity syndrome (CAIS)
What type of androgen insensitivity:
no clear/distinguished male or female genitalia at birth
Partial androgen insensitivity syndrome (PAIS)
This type of androgen insensitivity…
males born with male genitalia, often undiagnosed or much later diagnosed bc very few symptoms
Mild androgen insensitivity syndrome (MAIS)
Autosomal recessive, very rare!
Can involve single or multiple enzymes or cofactors
accumulation of metabolites
s/s: lethargy, coma, seizures, developmental delay, neuropathy, abnormal tone, myopathy, ataxia, dystonia, neuropsychiatric, vomiting and poor feeding, organomegaly, jaundice
cardiomyopathy, dysmorphic features, ophthalmogic, dermatologic, abnormal odors, urine changes
Metabolic disorders