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Article

Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.

Journal of pediatric endocrinology & metabolism : JPEM - 23 Feb 2021

Taha Doris, Adhikari Amita, Flore Leigh Anne

Abstract excerpt

OBJECTIVES: Activating germline mutations of the thyroid-stimulating hormone receptor (TSHR) are responsible for a rare form of neonatal nonautoimmune hyperthyroidism (NAH). We report the first case of familial neonatal neonatal nonautoimmune associated with c.1856A>G (p.Asp619Gly) variant in the TSHR gene. CASE PRESENTATION: We describe an eight-year-old African-American female presenting with neonatal NAH...

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Source

Identifiers

PMID: 33180037
DOI: 10.1515/jpem-2020-0291

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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