Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia

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 concentrati...

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Autores principales: Moran, Carla, Seger, Christoph, Taylor, Kevin, Oddy, Susan, Burling, Keith, Rajanayagam, Odelia, Fairall, Louise, McGowan, Anne, Lyons, Greta, Halsall, David, Gurnell, Mark, Schwabe, John, Chatterjee, Krishna, Strey, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc., publishers 2020
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7692891/
https://www.ncbi.nlm.nih.gov/pubmed/32669045
http://dx.doi.org/10.1089/thy.2020.0315
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author Moran, Carla
Seger, Christoph
Taylor, Kevin
Oddy, Susan
Burling, Keith
Rajanayagam, Odelia
Fairall, Louise
McGowan, Anne
Lyons, Greta
Halsall, David
Gurnell, Mark
Schwabe, John
Chatterjee, Krishna
Strey, Christopher
author_facet Moran, Carla
Seger, Christoph
Taylor, Kevin
Oddy, Susan
Burling, Keith
Rajanayagam, Odelia
Fairall, Louise
McGowan, Anne
Lyons, Greta
Halsall, David
Gurnell, Mark
Schwabe, John
Chatterjee, Krishna
Strey, Christopher
author_sort Moran, Carla
collection PubMed
description 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.
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spelling pubmed-76928912020-11-27 Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia Moran, Carla Seger, Christoph Taylor, Kevin Oddy, Susan Burling, Keith Rajanayagam, Odelia Fairall, Louise McGowan, Anne Lyons, Greta Halsall, David Gurnell, Mark Schwabe, John Chatterjee, Krishna Strey, Christopher Thyroid Brief Reports 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. Mary Ann Liebert, Inc., publishers 2020-11-01 2020-11-05 /pmc/articles/PMC7692891/ /pubmed/32669045 http://dx.doi.org/10.1089/thy.2020.0315 Text en © Carla Moran et al., 2020; Published by Mary Ann Liebert, Inc. This Open Access article is distributed under the terms of the Creative Commons License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Reports
Moran, Carla
Seger, Christoph
Taylor, Kevin
Oddy, Susan
Burling, Keith
Rajanayagam, Odelia
Fairall, Louise
McGowan, Anne
Lyons, Greta
Halsall, David
Gurnell, Mark
Schwabe, John
Chatterjee, Krishna
Strey, Christopher
Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia
title Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia
title_full Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia
title_fullStr Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia
title_full_unstemmed Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia
title_short Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia
title_sort hyperthyroxinemia and hypercortisolemia due to familial dysalbuminemia
topic Brief Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7692891/
https://www.ncbi.nlm.nih.gov/pubmed/32669045
http://dx.doi.org/10.1089/thy.2020.0315
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