Genetic Obesity

Question 1

MC4R deficiency

Answer 1

Most common
Tall stature, increased bone density
Lepton resistance and high levels insulin

Question 2

POMC

Answer 2

Adrenal crisis from ACTH deficiency in infancy
Rx with setmanotide

Question 3

LEPR

Answer 3

Leptin receptor gene deficiency
High insulin and leptin resistance
Rx setmelanotide

Question 4

Congenital leptin deficiency

Answer 4

Rx with metreleprin

Question 5

Bardet Biedl Syndrome

Answer 5

Recessive
2nd most common
Ciliary dysfunction
Cognitive delays, Micro-orchidism, retinal dystrophy, polydactyly, renal defects, polyuria/polydipsia

Question 6

Cohen syndrome

Answer 6

Recessive
8q22 mutation
Cognition, open mouth, hypotonia, eye problems, neutropenia, narrow hands

Question 7

Prader Willi

Answer 7

Chromosome 15
Not inherited
Hypotonia
Short
Almond eyes

Question 8

Albright

Answer 8

Autosomal dominant
Short
Round face
Short 4th metacarpal
Pseudohypoparathyroidism

Question 9

Borgesian Forssman Lehman

Answer 9

X linked
Big ears
Short toes
Small genitalia
Gynecomastia

Question 10

Alstrom Syndrome ALMS-

Answer 10

Anosmia
Loss of vision- retinal dystrophy
Myopathy (hear failure)
Sensorineural hearing loss
Intellectual disability