Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.

Pediatric research - 1 Aug 1999

Biebermann H, Liesenkötter K P, Emeis M, Oblanden M, Grüters A

Abstract excerpt

Isolated TSH deficiency leading to hypothyroidism seems to be a rare condition, escaping the diagnosis by neonatal screening programs, which are based on the primary determination of TSH. This is the first report of a case with an autosomal recessive TSH defect caused by a homozygous mutation of the betaTSH gene that was diagnosed in the early neonatal period. Hypothyroidism in the first child of apparently...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Hypothyroidism
Share to Homozygote
Share to Hypothyroidism

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to Pedigree

Share to Thyrotropin

Source

Identifiers

PMID: 10447110
DOI: 10.1203/00006450-199908000-00007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.PMID 10447110Read ↗

Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.Semantic proximity Read ↗

Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe.Semantic proximity Read ↗

New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.Semantic proximity Read ↗

Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X.Semantic proximity Read ↗

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.Semantic proximity Read ↗

Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormone -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSH GeneSemantic proximity Read ↗

Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.Semantic proximity Read ↗

Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism.Semantic proximity Read ↗

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

Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.Semantic proximity Read ↗

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.Semantic proximity Read ↗

Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.