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Article

Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Aug 2003

Caron Philippe, Moya Christian M, Malet David, Gutnisky Viviana J, Chabardes Bernard, Rivolta Carina M, Targovnik Héctor M

Abstract excerpt

In a 22-yr-old healthy woman, a fetal goiter was diagnosed coincidentally by ultrasound during the sixth month of gestation, and hypothyroidism was affirmed by a high TSH (336 mU/liter) concentration after cordocentesis. A second ultrasound examination at 27 wk gestation showed further enlargemen...

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Source

Identifiers

PMID: 12915634
DOI: 10.1210/jc.2002-021744

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12915634-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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