3 - Pedi Endo

Question 1

how does TX screen newborns for hypothyroid?

Answer 1

measure T4, and follow up lowest 10% w/ TSH and repeat T4

Question 2

MCC congenital hypothyroid

Answer 2

thyroid dysgenesis (mostly thyroid ectopy)

Question 3

genes req for thyroid cell development and for downward migration

Answer 3

TTF-1 (NKX2.1) and PAX-8 for cell development

TTF-2 for migration

Question 4

2 mutations that can cause congenital hypothyroid due to TSH resistance

Answer 4

PAX8 and defect in long arm of chromosome 15

Question 5

Pendred syndrome

Answer 5

goiter + sensorineural hearing loss
mutation in SLC26A4 gene (pendrin is protein)
pendrin is a Cl-I transport protein found in thyroid and inner ear

Question 6

general principles for tx of congenital hypothyroid

Answer 6

start as early as possible, higher doses = better