Genetic/Metabolic

Question 1

Elevated free T4, suppressed TSH

Answer 1

Primary hyperthyroidism

Question 2

Thyrotoxicosis with decreased radioactive iodine uptake

Answer 2

Painless (silent) thyroiditis, subacute (de quervain) thyroiditis

Question 3

Thyrotoxicosis with normal or increased radioactive iodine uptake

Answer 3

Graves’ disease

Question 4

In metabolic screening organic acids and ominous acids are detected by

Answer 4

Their unique mass

Question 5

Classic PKU presentation

Answer 5

Intellectual disability, microcephaly, seizures, pigment abnormalities

Question 6

Treatment of PKU

Answer 6

Phenylalanine restriction, low protein diet, cofactor supplementation

Question 7

PKU, MSUD, homocystinuria and tyrosinemia are examples of

Answer 7

Defects in amino acid metabolism

Question 8

Duchennes muscular dystrophy presents

Answer 8

With gross motor delay in childhood, cognitive dysfunction and behavioural issues, proximal muscle weakness

Question 9

Marfans syndrome presents as

Answer 9

Joint hyper mobility and increased risk of aortic root disease

Question 10

Rett syndrome is characterized by

Answer 10

Progressive brain deterioration that leads to deceleration of head growth and developmental regression

Question 11

Mutation in Rett syndrome

Answer 11

MECP2 mutation (generally fatal in boys)

Question 12

Dietary treatment of PKU effectiveness

Answer 12

Reverses all Sx except cognitive impairment that has already occurred

Question 13

Sphigomyelinase deficiency is called

Answer 13

Neimann-Pick disease

Question 14

B-hexosaminidase A deficiency is called

Answer 14

Tay-Sachs disease

Question 15

Onset of Niemann-Pick and TAY-sachs occurs around

Answer 15

2-6 months of age

Question 16

Loss of milestones, hypotonia, feeding issues, cherry red macula are signs of…

Answer 16

Niemann pick disease AND taysachs

Question 17

You can distinguish Niemann pick disease and taysachs because

Answer 17

Niemann pick disease has hepatosplenomegaly and areflexia, while taysachs kids are hyperreflexic without liver enlargement

Question 18

Galactocerebrosidase deficiency results in

Answer 18

Krabbe disease, a lysosomal storage disorder

Question 19

Glucocerebrosidase deficiency leads to

Answer 19

Gaucher disease

Question 20

Lysosomal hydrolase deficiency leads to

Answer 20

Hurler syndrome

Question 21

Short webbed neck and broad chest with widely spaced nipples

Answer 21

Turners syndrome

Question 22

What cardiac findings are associated with turners syndrome

Answer 22

Coarctation of aorta, bicuspid aortic valve

Question 23

What renal manifestation is associated with turners

Answer 23

Horseshoe kidney

Question 24

What reproductive abnormalities are associated with turners

Answer 24

Streak ovaries, amenorrhea, and infertility

Question 25

MVP is common in what two genetic disorders

Answer 25

CT disorders marfans and ehlers danlos

Question 26

Which genetic disorder is associated with tetralogy of fallout

Answer 26

DiGeorge syndrome, Down’s syndrome

Question 27

Major depressive disorder, salt craving, and reduced body hair are suggestive of

Answer 27

Primary adrenal insufficiency aka Addyson’s disease

Question 28

Diagnosis of primary adrenal insufficiency is made by stimulation testing with

Answer 28

Cosyntropin - ACTH

Question 29

Low cortisol following cosyntropin administration is diagnostic of

Answer 29

PAI

Question 30

Episodic jaundice that can follow viral infection, fever, stress, dehydration, menstruation, surgery

Answer 30

Gilbert’s syndome

Question 31

Thyrotoxicosis with normal or increased radioactive iodine uptake

Answer 31

Graves’ disease

Question 32

Thyrotoxicosis with normal or increased radioactive iodine uptake

Answer 32

Graves’ disease

Question 33

Non classic congenital adrenal hyperplasia is most commonly caused by deficiency of

Answer 33

21 hydroxylase deficiency (leading to increased androgen synthesis)

Question 34

Diagnosis of non classic congenital adrenal hyperplasia is with

Answer 34

Elevated 17-hydroxyprogesterone level and ACTH stimulation test