HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Question 1

What is  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2?

Accepted Answer

rare (1:3500)
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

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Athyreose; CHNG2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 218700

Question 4

Which enzymes are involved?

Accepted Answer

Paired box protein Pax-8

Disease	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
Synonym	THYROID DYSGENESIS; THYROID AGENESIS
OMIM	218700 OMIM = Online Mendelian Inheritance of Men
Orphanet	95713
Protein (UniProt)	Paired box protein Pax-8
Gene locus	2q14.1
ICD	E03.1
Summary	rare (1:3500) 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
Laboratory findings	Bilirubin inc (serum) Thyroid-stimulating hormone (TSH) inc (serum) Thyroxine (T4) dec (serum) Triiodothyronine (T3) dec (serum)
Symptoms	bradycardia cardiomegaly constipation defect of thyroid gland feeding difficulties, poor feeding hearing defect, deafness hernia hoarse cry hypothermia hypothyroidism jaundice macroglossia, large/protuding tongue mental retardation motor retardation myxedema onset, infancy onset, neonatal screaming or crying, abnormal skin, abnormal Teeth: delayed eruption or noneruption X-ray, abnormalities