Endocrinoogy

Question 0

_results in the regression of female internal duct structure in genetic males

Answer 0

Mullerian Inhibiting Factor

Question 1

-responsible for the formation of male external genitals

Answer 1

Androgens

Question 2

• genetic males with female phenotypical features or ambiguous genitalia
• XY infant with clitoromegaly and palpable masses in the labial folds

Answer 2

Male pseudohermaphroditism

Question 3

• either Mullerian inhibiting substance is not being formed or lack of receptors for MIF
• results in the formation of female parts in otherwise nl XY males

Answer 3

Persistent Mullerian Duct Syndrome

Question 4

• genetically male (XY)
• receptors resistant to testosterone
• normal looking vagina and testes in inguinal canal
• primary amenorrhea (no ovaries or uterus)
• vagina with blind pouch
• X-linked

Answer 4

Androgen Insensitivity

Question 5

• shocky, septic newborn
• males: excessive scrotal pigmentation
• females: ambiguous genitalia
• incr androgen levels
• AR

Answer 5

Congenital Adrenal Hyperplasia

Question 6

• hyperkalemia, hyponatremia

- increased 17-OH progesterone

Answer 6

21 hydroxylase deficiency

Question 7

• decr cortisol, incr ACTH
• hyperpigmentation
• hyperkalemia, hyponatremia, no aldosterone

Answer 7

Primary adrenal insufficiency

Question 8

• decr ACTH, decr cortisol
• intact R-A-A system
• nL K & Na
• ACTH stim test incr cortisol
• midline defects (cleft lip, etc)

Answer 8

Secondary adrenal insufficiency

Question 9

• chubby boy with short stature and small genitalia
• delay in bone age
• lack of GH release following insulin or arginine stimulation

Answer 9

GH deficiency

Question 10

• MC in males
• decr growth velocity in early teens
• delayed onset of puberty
• bone age below chronological age
• increased growth velocity about 16 yo
• sexual dev lags behind

Answer 10

Constitutional growth delay

Question 11

• bone age = chronological age
• nL growth velocity
• short parents

Answer 11

Familial Short Stature

Question 12

• tall stature
• learning disabilities or normal intelligence
• small testicles

Answer 12

Klinefelter

Question 13

-poor feeding, jaundice, constipation, hypotonia, hoarse cry, macroglossia, umbilical hernia, enlarged anterior fontanelle

Answer 13

Congenital hypothyroidism

Question 14

• antibodies to thyroid tissue
• lymphocytic infiltration
• goiter
• anti-thyroglobulin and anti-thyroperoxidase
• MC low TSH, sometimes high

Answer 14

Hashimoto’s Thyroiditis

Question 15

• caused by thyroid stimulating Ab
• bulging eyes, emotional lability, wt loss, sleep disturbance, heat intolerance
• acute mgmt: Propranolol
• chronic mgmt: PTU
• increased radioactive iodine uptake

Answer 15

Graves’ disease

Question 16

-low total T4
-nl free T4
euthyroid clinically
-nL TSH
-no thyroid replacement necessary

Answer 16

Thyroid Binding Globulin Deficiency

Question 17

• 2 random glucose >200 OR
• 1 random glucose >200 + Sx OR
• fasting glucose >126 OR
• 2 hr ppGluc >200

Answer 17

Dx of Diabetes

Question 18

• islet cell destruction, inability to produce insulin
• polyuria, polydipsia, incr appetite, wt loss
• Tx: short and long acting insulin

Answer 18

Type 1 DM

Question 19

• insulin resistance
• obesity, acanthosis nigricans
• Tx: nutrition, incr exercise, metformin

Answer 19

Type 2 DM

Question 20

• incr TG
• decr HDL
• HTN
• incr gluc
• truncal obesity

Answer 20

Metabolic syndrome

Question 21

• fluid replacement (1/2 deficit replaced over 16 hours)
• initial Na deficit
• K deficit regardless (corrects w/ acidosis)
• add glucose when BGT < 300
• monitor for cerebral edema
• Bicarb only if pH<7.1

Answer 21

DKA mgmt

Question 22

• incr serum Osm and glucose
• fluid replacement over 36-48 hrs
• T2DM

Answer 22

Hyperosmotic Diabetic Coma

Question 23

Williams Syndrome
Ingestion (Vit D & A, tthiazides)
Skeletal disorders (dysplasias, body casts)
Hyperparathyroidism

Tx: fluid, Lasix, EKG, calcitonin

Answer 23

Hypercalcemia

Question 24

-Sx: painful muscle spasms, seizures, vomiting, long QT
-Chvostek & Trousseau
-Pseudohypoparathyroidism
Intake, Immune Deficiency (DiGeorge)
Nephrotic Syndrome (low Alb)
Kidney (renal insufficiency –> incr Phos, decr Ca

Answer 24

Hypocalcemia

Question 25

• incr PTH, decr Ca
• end organ resistance
• dev delay, short, obese, moon facies, calcification of basal ganglia

Answer 25

Pseudohypoparathyroidism

Question 26

-decr Ca, incr Phos

Answer 26

Hypoparathyroidism

Question 27

-decr Ca, decr Phos

Answer 27

Vitamin D deficiency

Question 28

• decr Ca, decr Phos, incr Alk Phos
• deficient mineralization of bone
• Risks: BF w/o Vit D, poor exposure to sunlight, dark skinned, LBW or prematurity, AEDs
• bone pain, anorexia, decr growth rate, widening of wrists & knees, rachitic rosary & craniotabes, delayed eruption of teeth

Answer 28

Rickets

Question 29

-Type 1 (AR): inadequate renal production of 1,25-OH Vit D3
Tx: Vit D2 & 1,25-OH Vit D3
-Type 2 (AR): end organ resistance to Vit D, incr 1,25-OH Vit D

Answer 29

Vitamin D Dependent Rickets

Question 30

• excessive Phos loss thru kidneys
• X-linked dominant
• decr conversion of 25-OH Vit D to 1,25-OH Vit D
• Tx: phosphate & 1,25 OH Vit D

Answer 30

Hypophosphatemic rickets