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Article

Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.

Thyroid : official journal of the American Thyroid Association - 1 May 2000

Heinrichs C, Parma J, Scherberg N H, Delange F, Van Vliet G, Duprez L, Bourdoux P, Bergmann P, Vassart G, Refetoff S

Abstract excerpt

We report a Belgian girl born in 1983 with isolated thyrotropin (TSH) deficiency. Hypothyroidism without goiter was diagnosed at the age of 2 months, with extremely low total thyroxine (T4) at 0.3 microg/dL (4 nmol/L; N[normal]: 5.6-11.4 microg/dL). Basal TSH, only moderately elevated at 14.8 mU/L (N: 0-5.3; competitive radioimmunoassay, RIA), increased to 18.2 mU/L after thyrotropin-releasing hormone (TRH)...

Topics

Adolescent
Amino Acid Sequence
Base Sequence
Congenital Hypothyroidism
DNA
Female
Homozygote
Humans
Hypothyroidism
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thyrotropin

Source

Identifiers

PMID: 10884185
DOI: 10.1089/thy.2000.10.387

Genes

TRH

Provenance

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