Parrot CIS1

Question 1

What is Prader-Willi syndrome?

Answer 1

Genetic disorder in gonadal genes causing: obesity, intellectual disability, shortness stature, small hands and feet, muscle weakness, insatiable appetite, proneness to emotional outbursts

Question 2

What is Kallmann syndrome?

Answer 2

Pt has anosmia (cannot smell)

Genetic defect in gonadic hormones (GnRH, LH, FSH)
- 1/3 have GH def

Question 3

What two syndromes are associated w/ congenital isolated hypogonadoropic hypogonadism? What genes are involved?

Answer 3

Prader Willi syndrome
Kallmann syndrome

Genes associated w/ GnRH, LH, FSH

Question 4

What are the two subtypes of hypopituitarism?

Answer 4

Mass lesions in the hypothalamus/pituitary stalk/pituitary

Hypopituitarism w/o mass lesions d/t: congenital defects, acquired, Sheenan syndrome, functional hypopituitarism (when hormone release is inh d/t a neg fb from elsewhere in the body, ex: excessive wt stops periods)