Open AccessHyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia
Author(s) -
Carla Moran,
Christoph Seger,
Kevin Taylor,
Susan Oddy,
Keith Burling,
Odelia Rajanayagam,
Louise Fairall,
Anne McGowan,
Greta Lyons,
David Halsall,
Mark Gurnell,
John W.R. Schwabe,
Krishna Chatterjee,
Christopher H. Strey
Publication year - 2020
Publication title -
thyroid
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.918
H-Index - 142
eISSN - 1557-9077
pISSN - 1050-7256
DOI - 10.1089/thy.2020.0315
Subject(s) - hypercortisolemia , euthyroid , endocrinology , medicine , albumin , hormone , thyroid hormones
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.