Thyroid Disorders Pedia Flashcards
T or F. Mental retardation in congenital hypothyroidism is preventable.
True
What are the classical features of congenital hypothyroidism?
- Progressive jaundice
- Inactive defecation
- Umbilical hernia
- Hypotonia
- Skin: Dry and rough
- Pallor, coldness, edema, hypothermia
- “Rough facial features” : flat nasal bridge, enlarged tongue
- Open fontanels
- Delayed overall development
- Bradycardia
- Narrow Pulse Pressure
- Hypothermia
What are the involved genes in primary CH?
TTF-2, NKX2.1, NKX2.5 PAX-9
Most common cause of congenital hypothyroidism
Primary Hypothyroidism - 80-95% of cases
What is the size of an open fontanel?
> 1cm
Most common type of thyroid dysgenesis abroad?
Thyroid ectopia
Most common type of thyroid dysgenesis locally?
Athyreosis
Gene affected in abnormalities of thyroid hormone transport
Monocarboxylase transporter 8 (passage of T3 in neurons)
Safest anti-thyroid for pregnant women
PTU
How many years do you have to treat a case of transient hypothyroidism before you can confirm that it is transient?
3 years then stop medication then observe for 4-6 weeks
transcription factors involved in pituitary
development or function
HESX1, LHX3, LHX4, PIT1, PROP1 gene mutations
When is newborn screening done in a newborn?
after 48 hours
cut-off value for TSH
> 40 mU/mL
Pitfall of using TSH as the screening test
miss those infants with central hypothyroidism
What is the standard treatment for CH?
Levothyroxine for first 2 weeks.
