TSHR Gly413Ser in familial nonautoimmune hyperthyroidism: a case report

Q: What does this research mean for the field?

The TSHR Gly413Ser variant is a pathogenic activating mutation that causes familial nonautoimmune hyperthyroidism (FNAH). Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Oskar Kelp; Jostein Førsvoll; Franziska Bischof; Claudia Stäubert; Torsten Schöneberg; Hanne Gro Olsen; Asgeir Lande; Siri Carlsen; Per Medbøe Thorsby; Alexander B. Westbye; May K. L. Bredahl

doi:10.1515/jpem-2025-0617

August 29, 2026Journal of Pediatric Endocrinology and MetabolismOpen Access

TSHR Gly413Ser in familial nonautoimmune hyperthyroidism: a case report

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Key Points

To establish the pathogenicity and functional consequences of the novel TSHR Gly413Ser variant in a family presenting with antibody-negative hyperthyroidism.
Conducted clinical evaluation, cascade genetic screening, and segregation analysis across 12 members of a multigenerational family.
Measured in vitro basal and thyrotropin-stimulated cyclic adenosine monophosphate (cAMP) and inositol 1-phosphate production to assess variant receptor activity.
The TSHR c.1237G>A, p.(Gly413Ser) variant segregated completely with disease, detected in all 9 affected individuals and absent in 3 unaffected family members.
In vitro functional assays demonstrated an approximate threefold increase in basal cAMP production for the Gly413Ser variant without altering inositol 1-phosphate signaling.
Antithyroid drug withdrawal led to universal relapse among treated individuals, necessitating definitive ablative therapy in eight of nine affected family members.

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Implication

Case report uncovers an activating TSHR Gly413Ser variant in a multigenerational family with nonautoimmune hyperthyroidism, suggesting genetic screening for antibody-negative cases.

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Cite This Study

Kelp et al. (2026) studied this question.

synapsesocial.com/papers/6a93f14b6c1a8fb52e79e29f https://doi.org/10.1515/jpem-2025-0617

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TSHR Gly413Ser in familial nonautoimmune hyperthyroidism: a case report

Key Points

No abstract yet

Implication

Discussion

Cite This Study

TSHR Gly413Ser in familial nonautoimmune hyperthyroidism: a case report

Key Points

No abstract yet

Implication

Discussion

Cite This Study

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