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Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.

ABSTRACT: A 23-year-old man and his grandmother with hyperthyroxinemia and hypercortisolemia were heterozygous for an ALB mutation (p. Arg218Pro), known to cause familial dysalbuminemic hyperthyroxinemia (FDH). However, serum-free cortisol levels in these individuals were normal and total cortisol concentrations fell markedly after depletion of albumin from their serum. We conclude that binding of steroid as well as iodothyronines to mutant albumin causes raised circulating cortisol as well as thyroid hormones in euthyroid euadrenal individuals with R218P FDH, with potential for misdiagnosis, unnecessary investigation, and inappropriate treatment.

SUBMITTER: Moran C

PROVIDER: S-EPMC7692891 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.

Moran Carla C Seger Christoph C Taylor Kevin K Oddy Susan S Burling Keith K Rajanayagam Odelia O Fairall Louise L McGowan Anne A Lyons Greta G Halsall David D Gurnell Mark M Schwabe John J Chatterjee Krishna K Strey Christopher C

Thyroid : official journal of the American Thyroid Association 20200825 11

A 23-year-old man and his grandmother with hyperthyroxinemia and hypercortisolemia were heterozygous for an <i>ALB</i> mutation (p. Arg218Pro), known to cause familial dysalbuminemic hyperthyroxinemia (FDH). However, serum-free cortisol levels in these individuals were normal and total cortisol concentrations fell markedly after depletion of albumin from their serum. We conclude that binding of steroid as well as iodothyronines to mutant albumin causes raised circulating cortisol as well as thyr ...[more]

PMID: 32669045

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Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.

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Familial Dysalbuminemic Hyperthyroxinemia as a Cause for Discordant Thyroid Function Tests.

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