Familial dysalbuminemic hyperthyroxinemia

Familial dysalbuminemic hyperthyroxinemia
SpecialtyEndocrinology

Familial dysalbuminemic hyperthyroxinemia (FDH) rare genetic condition that is a common cause of euthyroid hyperthyroxinemia and is associated with mutations in the human serum albumin gene.[1][2] It is an autosomal dominant condition that is often mistaken for resistance to thyroid hormone (RTH) syndromes or hyperthyroidism. [3][4] FDH is characterized by high levels of thyroxine (T4) and normal levels of thyroid stimulating hormone (TSH).[3] Due to the mutations in the albumin gene, an abnormal albumin protein binds thyroid hormones with a high affinity than normal.[4] This explains why those with familial dysalbuminemic hyperthyroxinemia have increased T4 levels and normal TSH levels.[4]

  1. ^ Petitpas I, Petersen CE, Ha CE, et al. (May 2003). "Structural basis of albumin–thyroxine interactions and familial dysalbuminemic hyperthyroxinemia". Proceedings of the National Academy of Sciences, USA. 100 (11): 6440–5. Bibcode:2003PNAS..100.6440P. doi:10.1073/pnas.1137188100. PMC 164465. PMID 12743361.
  2. ^ Fukaishi, Takahiro; Sekiguchi, Yoshihiro; Hara, Yoshihito (2017). "Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms". Internal Medicine. 56 (16): 2175–2180. doi:10.2169/internalmedicine.8619-16. ISSN 0918-2918. PMC 5596280. PMID 28781323.
  3. ^ a b Dieu, Xavier; Bouzamondo, Nathalie; Briet, Claire; Illouz, Frédéric; Moal, Valérie; Boux de Casson, Florence; Bouhours-Nouet, Natacha; Reynier, Pascal; Coutant, Régis; Rodien, Patrice; Mirebeau-Prunier, Delphine (2020-07-03). "Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity". Journal of Clinical Medicine. 9 (7): 2105. doi:10.3390/jcm9072105. ISSN 2077-0383. PMC 7408830. PMID 32635414.
  4. ^ a b c Ruiz, Miguel; Rajatanavin, Rajata; Young, Ruth A.; Taylor, Charles; Brown, Rosalind; Braverman, Lewis E.; Ingbar, Sidney H. (1982-03-18). "Familial Dysalbuminemic Hyperthyroxinemia: A Syndrome That Can Be Confused with Thyrotoxicosis". New England Journal of Medicine. 306 (11): 635–639. doi:10.1056/NEJM198203183061103. ISSN 0028-4793. PMID 6173750.
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