HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Question 1

What is  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1?

Accepted Answer

rare
autosomal recessive
mutation in the thyroid-stimulating hormone receptor gene
Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia [Grasberger H, 2017]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypothyreose durch TSH-Rezeptor-Genmutationen; CHNG1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 275200

Question 4

Which enzymes are involved?

Accepted Answer

Thyrotropin receptor

Disease	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1
Synonym	THYROTROPIN RESISTANCE; TSHR
OMIM	275200 OMIM = Online Mendelian Inheritance of Men
Orphanet	90673
Protein (UniProt)	Thyrotropin receptor
Gene locus	14q31.1
ICD	E03.1
Summary	rare autosomal recessive mutation in the thyroid-stimulating hormone receptor gene Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia [Grasberger H, 2017]
Laboratory findings	Thyroid-stimulating hormone (TSH) inc (serum)
Symptoms	no clinical symptoms (probably) onset, infancy