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Summary
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 CHNG2
THYROID DYSGENESIS THYROID AGENESIS
218700
OMIM = Online Medalian Inheritance of Men
442
2q14.1
  • L-thyroxine
rare
autosomal dominant
mutation in the PAX8 gene
hypothyroidism may result from:
- thyroid gland dysgenesis
- deficient production of thyroid hormone
- defect of receptor
- fetal exposure to exsessive iodides
- fetal exposure to antithyroid drugs
symptoms
bradycardia
cardiomegaly
constipation
defect of thyroid gland
feeding difficulties, poor feeding
hearing defect, deafness
hernia
hoarse cry
hypothermia
jaundice
macroglossia, large/protuding tongue
mental retardation
motor retardation
myxedema
onset, infancy
onset, neonatal
skin, abnormal
X-ray, abnormalities
laboratory finding
Thyroid-stimulating hormone (TSH) 2.004.00increasedserum
Thyroxine (T4) 7.0015.00decreasedserum
Triiodthyronine 240.00560.00decreasedserum
MRS, brain, abnormalities -
ECG abnormalities -
Bilirubin increasedserumnewborn
Literature
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