Endocrinology

Question 1

2 week old male with FTT, persistent vomiting, dehydration, acidosis

Answer 1

CAH 21OH deficiency

Question 2

Inguinal hernia, primary amenorrhea, no pubic hair

Answer 2

Androgen insensitivity syndrome

Question 3

11yoF with ambiguous genitalia, masculinizes at puberty

Answer 3

5 alpha reductase deficiency

Question 4

3 day old baby, 10lbs at birth, jittery

Answer 4

IDM with hypocalcemia

Question 5

5do baby, small jaw, broad nose, TOF, seizure

Answer 5

Di George

Question 6

8yo boy with dev delay, short, round facies, SQ calcifications, shortened 4th digit, hypocalcemia

Answer 6

Albrights Hereditary Ostodystrophy

Pseudo hypoparathyroidism

Question 7

3mo M with elfin facies, supravalvular AS, Ca 12.2

Answer 7

Williams

Question 8

4do M w hypoglycemia, oomphalocele, hemihypertrophy

Answer 8

Beckwith Wiedemann

Question 9

10 lb plethoric neonate, requiring 15mg/kg/m dextrose gtt. Mom with no h/o GDM

Answer 9

Congenital hyperinsulinism

Question 10

18mo M with mild fever overnight, presents with LOC and hypoglycemia

Answer 10

Ketotic hypoglycemia *Dx of exclusion

Question 11

5do M with small phallus, jaundice, now with glucose 45 and ketonuria after a 4 hour fast

Answer 11

Hypopituitarism (ACTH/GH deficiency)

Question 12

9 yr old male <3%ile, following own curve, delayed bone age of 2 yrs

Answer 12

Constitutional growth delay

Question 13

6yr old with nighttime headaches, falling from 25th %ile to 5th %ile over 1 year. Enuresis

Answer 13

Intracranial tumor close to pituitary

Question 14

9moF who has fallen from 50th to 25th %ile over past 5 months

Answer 14

NORMAL

Question 15

18moM, length and weight stalled since 9 months. Stools odorous

Answer 15

Celiac disease/malabsorption

Question 16

11yoF with stalled growth x 2 years, tired, constipated, jaundice

Answer 16

Hypothyroidism- likely Hashimoto’s

Question 17

13yoF, «3%ile, no breast development. H/o heart murmur

Answer 17

Turner Syndrome

Question 18

2yr old F with bilateral breast buds, unchanged x 1 year, no growth acceleration

Answer 18

Benign premature thelarche

Question 19

6yr old F with adrenarche, no breast bud development. No exogenous androgen source, DHEA markedly elevated

Answer 19

Adrenal carcinoma

Question 20

5yo F with pubic hair, mild hyperpigmentation of skin folds, slightly enlarged clitoris

Answer 20

Simple virilizing CAH-21 OH deficiency

Question 21

14yoF, school troubles, getting in fights, appears to be “on drugs” because of red bulgy eyes and irritability

Answer 21

Graves Disease

Question 22

14yoM who is tall, thin, mid-puberty but small testicles noted on sports physical

Answer 22

Klinefelter Syndrome

Question 23

4yoF with rapid breast development, large brown birthmark, and recent arm pain of unknown source

Answer 23

McCune Albright (McCafe!)