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

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

European journal of endocrinology - 1 Dec 2022

Fourneaux Rachel, Reynaud Rachel, Mougel Gregory, Castets Sarah, Bretones Patricia, Dauriat Benjamin, Edouard Thomas, Raverot Gerald, Barlier Anne, Brue Thierry, Castinetti Frederic, Saveanu Alexandru

Abstract excerpt

Design: Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may be isolated, secondary to abnormalities of genes involved in TSH biosynthesis, or associated with other pituitary deficits or abnormalities of genes involved in pituitary ontogenesis. Several genes are involved in thyrotroph development and function. Objective: Our aim was to determine the genetic causes of TSHD, either isolated...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Growth Hormone and Insulin-like Growth Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypothyroidism

Share to Immunoglobulins

Share to Membrane Proteins

Share to Mutation

Share to Thyroid Disorders and Treatments

Share to Thyrotropin

Source

Identifiers

PMID: 36201163
DOI: 10.1530/EJE-22-0520

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.PMID 36201163Read ↗

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.Semantic proximity Read ↗

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.Semantic proximity Read ↗

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.Semantic proximity Read ↗

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.Semantic proximity Read ↗

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.Semantic proximity Read ↗

TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient MiceSemantic proximity Read ↗

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.Semantic proximity Read ↗

Genetics of GH Deficiency: Insights From a Cohort of 203 PatientsSemantic proximity Read ↗

Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.Semantic proximity Read ↗

Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk FactorsSemantic proximity Read ↗

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With DyshormonogenesisSemantic proximity Read ↗

Whole-Exome Sequencing Study of Thyrotropin-Secreting Pituitary Adenomas.Semantic proximity Read ↗

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