Endo/Metabolism Lectures

Question 1

3 types of GH deficiency?

Answer 1

Congenital (birthing process issue)

Acuqired (infection, autoimmune, tumor etc)

Idiopathic

Question 2

Possible jaundice
Hypoglycemia
GnRH deficiency
Sexual organ developmental issue

..what type of GH decrease?

Answer 2

Congenital

Question 3

Severe growth failure
Decreased bone age
Infantile/doll like appearance
Infantile voice
Delayed puberty

Answer 3

Acquired GH deficiency

Question 4

Thick tongue
Hypotonia
Hypothermia
Bradycardia
Large fontanel’s
Constipation
Hoarse cry
Umbilical hernia
Dry skin

Answer 4

Congenital hypothryoidism

Question 5

Hashimoto thyroiditis causes…

Answer 5

acquired hypothyroidism

Question 6

Anti-TPO antibody titer will confirm what dx?

Answer 6

Hashimoto thyroiditis

Question 7

Tachycardia
Tremor
Exopthalmos
brisk DTR
Accelerated growth

often caused by Graves

Answer 7

Hyperthyroidism

Question 8

Thyroid stimulating Immunoglobulin (TSI) can confirm what dx?

Answer 8

Graves

Question 9

Beta blockers
PTU, Methimazole
Radiation therapy
Surgery

tx for?

Answer 9

Hyperthyroidism

Question 10

Mobilizes Ca from bone
increases renal resorption Ca++
incr PO4 excretion
increases renal Vit D secretion

Answer 10

Parathyroid Hormone (PTH)

Question 11

What does calcitonin do to bone deposition of Ca?

Answer 11

Increased bone deposition of Ca

Question 12

What increased intestinal absorption of Ca?

Answer 12

Vitamin D

Question 13

MAJOR goal of treating DKA?

Answer 13

Hydration and electrolyte correction!!

Question 14

What levels must you check before giving insulin?

Answer 14

Potassium

Question 15

A softening of bones in kids due to inadequate vitamin D

Answer 15

Rickets

Question 16

Presents with hypocalcemia

(ie Trousseus, Chovstek signs)

Answer 16

Hypoparathyroidism

Question 17

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

Answer 17

Metabolic syndrome

Question 18

Autosomal recessive
deficiency of 21 alpha hydroxylase

Severe (ambiguous genitalia bc increased androgens)

Moderate (percocious pubic hair, clitomegaly)

Mild (presents later, amenorrhea, hirsutism, infertile)

Answer 18

Congenital Adrenal Hyperplasia (CAH)

Question 19

Insufficiency in pathway of aldosterone and/or cortisol
due to 21 alpha hydroxylase deficiency

Answer 19

Congenital adrenal hyperplasia (CAH)

Question 20

Feminization of sex organs
Infertilities of males

Can be complete, partial or mild

Answer 20

Androgen insensitivity

Question 21

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

Answer 21

complete androgen insensitivity syndrome (CAIS)

Question 22

What type of androgen insensitivity:

no clear/distinguished male or female genitalia at birth

Answer 22

Partial androgen insensitivity syndrome (PAIS)

Question 23

This type of androgen insensitivity…

males born with male genitalia, often undiagnosed or much later diagnosed bc very few symptoms

Answer 23

Mild androgen insensitivity syndrome (MAIS)

Question 24

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

Answer 24

Metabolic disorders

Question 25

Tandem Mass Spectrometry is used as a screening tool for..

Answer 25

Metabolic disorders

(will not say WHAT the disorder is, but will let you know there is a disorder or problem)