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Article

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

Nature genetics - 1 May 1998

Macchia P E, Lapi P, Krude H, Pirro M T, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Grüters A, Busslinger M, Di Lauro R

Abstract excerpt

Permanent congenital hypothyroidism (CH) is a common disease that occurs in 1 of 3,000-4,000 newborns. Except in rare cases due to hypothalamic or pituitary defects, CH is characterized by elevated levels of thyroid-stimulating hormone (TSH) resulting from reduced thyroid function. When thyroid hormone therapy is not initiated within the first two months of life, CH can cause severe neurological, mental and motor...

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Source

Identifiers

PMID: 9590296
DOI: 10.1038/ng0598-83

Genes

PAX8
TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.PMID 9590296Read ↗

Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.Semantic proximity Read ↗

Perspective: Genetic Defects in the Etiology of Congenital HypothyroidismSemantic proximity Read ↗

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.Semantic proximity Read ↗

Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.Semantic proximity Read ↗

A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.Semantic proximity Read ↗

Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.Semantic proximity Read ↗

Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8Semantic proximity Read ↗

Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.Semantic proximity Read ↗

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.Semantic proximity Read ↗

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.Semantic proximity Read ↗

Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.Semantic proximity Read ↗

Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.Semantic proximity Read ↗

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