Matches in SemOpenAlex for { <https://semopenalex.org/work/W3023262725> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W3023262725 abstract "Abstract Background: Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant disease characterized by hyperthyroxinemia without symptoms of thyrotoxicosis, due to a high affinity of mutant albumin for thyroxine. No report has described cortisol-albumin binding in FDH patient, and here we present a case of FDH presenting with false hypercortisolemia. Clinical Case: A 46-year man, previously diagnosed with FDH by genetic test (1), was pointed out hypercortisolemia with normal ACTH level (ACTH 64.7 pg/mL, Cortisol 34.7 μg/dL) during the investigation for Parkinson’s syndrome and referred to our department for further examination. Cortisol was 7.1 μg/dL at midnight, 14.9 μg/dL after low dose dexamethasone overnight test, and DDAVP test was positive. ACTH and cortisol responded to CRH load, although basal and peak cortisol levels were high (35.4 and 53.9 μg/dL, respectively). High dose dexamethasone overnight test showed suppressed ACTH and cortisol, and MRI showed no obvious pituitary adenoma. In spite of significant high cortisol level, no Cushing sign’s or metabolic abnormalities were observed and urinary free cortisol was within the normal range (30.7 μg/day), suggesting the presence of factors affecting the laboratory testing. We removed albumin from serum with immunoprecipitation using anti-albumin antibody and measured cortisol with LC-MS/MS. The decrease of cortisol was 4% in control serum but 38% in the patient serum after removing albumin, suggesting the binding rate of cortisol to mutant albumin in the patient was increased, leading to false hypercortisolemia. Conclusion: This is the first case demonstrating the false hypercortisolemia in a FDH patient. Clinicians should consider the possibility of the abnormal cortisol binding to albumin in differential diagnosis of hypercortisolemia with normal ACTH level. Reference: (1) Norio Wada, et al: A Novel Missense Mutation in Codon 218 of the Albumin Gene in a Distinct Phenotype of Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Kindred. Journal of Clinical Endocrinology and Metabolism 1997;82;3246–3250" @default.
- W3023262725 created "2020-05-13" @default.
- W3023262725 creator A5032820934 @default.
- W3023262725 creator A5033779805 @default.
- W3023262725 creator A5055696290 @default.
- W3023262725 creator A5060578424 @default.
- W3023262725 creator A5062478374 @default.
- W3023262725 creator A5073112205 @default.
- W3023262725 creator A5078843127 @default.
- W3023262725 creator A5079071350 @default.
- W3023262725 creator A5086642851 @default.
- W3023262725 date "2020-04-01" @default.
- W3023262725 modified "2023-10-16" @default.
- W3023262725 title "MON-483 Familial Dysalbuminemic Hyperthyroxinemia with False Hypercortisolemia" @default.
- W3023262725 doi "https://doi.org/10.1210/jendso/bvaa046.409" @default.
- W3023262725 hasPublicationYear "2020" @default.
- W3023262725 type Work @default.
- W3023262725 sameAs 3023262725 @default.
- W3023262725 citedByCount "0" @default.
- W3023262725 crossrefType "journal-article" @default.
- W3023262725 hasAuthorship W3023262725A5032820934 @default.
- W3023262725 hasAuthorship W3023262725A5033779805 @default.
- W3023262725 hasAuthorship W3023262725A5055696290 @default.
- W3023262725 hasAuthorship W3023262725A5060578424 @default.
- W3023262725 hasAuthorship W3023262725A5062478374 @default.
- W3023262725 hasAuthorship W3023262725A5073112205 @default.
- W3023262725 hasAuthorship W3023262725A5078843127 @default.
- W3023262725 hasAuthorship W3023262725A5079071350 @default.
- W3023262725 hasAuthorship W3023262725A5086642851 @default.
- W3023262725 hasBestOaLocation W30232627251 @default.
- W3023262725 hasConcept C126322002 @default.
- W3023262725 hasConcept C134018914 @default.
- W3023262725 hasConcept C2776125364 @default.
- W3023262725 hasConcept C2778024521 @default.
- W3023262725 hasConcept C2778709874 @default.
- W3023262725 hasConcept C2779306644 @default.
- W3023262725 hasConcept C2780401358 @default.
- W3023262725 hasConcept C2780546910 @default.
- W3023262725 hasConcept C2910616045 @default.
- W3023262725 hasConcept C71315377 @default.
- W3023262725 hasConcept C71924100 @default.
- W3023262725 hasConceptScore W3023262725C126322002 @default.
- W3023262725 hasConceptScore W3023262725C134018914 @default.
- W3023262725 hasConceptScore W3023262725C2776125364 @default.
- W3023262725 hasConceptScore W3023262725C2778024521 @default.
- W3023262725 hasConceptScore W3023262725C2778709874 @default.
- W3023262725 hasConceptScore W3023262725C2779306644 @default.
- W3023262725 hasConceptScore W3023262725C2780401358 @default.
- W3023262725 hasConceptScore W3023262725C2780546910 @default.
- W3023262725 hasConceptScore W3023262725C2910616045 @default.
- W3023262725 hasConceptScore W3023262725C71315377 @default.
- W3023262725 hasConceptScore W3023262725C71924100 @default.
- W3023262725 hasLocation W30232627251 @default.
- W3023262725 hasLocation W30232627252 @default.
- W3023262725 hasOpenAccess W3023262725 @default.
- W3023262725 hasPrimaryLocation W30232627251 @default.
- W3023262725 hasRelatedWork W10001548 @default.
- W3023262725 hasRelatedWork W10094436 @default.
- W3023262725 hasRelatedWork W1789652 @default.
- W3023262725 hasRelatedWork W19645579 @default.
- W3023262725 hasRelatedWork W20565001 @default.
- W3023262725 hasRelatedWork W5442471 @default.
- W3023262725 hasRelatedWork W5926037 @default.
- W3023262725 hasRelatedWork W780372 @default.
- W3023262725 hasRelatedWork W8035794 @default.
- W3023262725 hasRelatedWork W19290910 @default.
- W3023262725 isParatext "false" @default.
- W3023262725 isRetracted "false" @default.
- W3023262725 magId "3023262725" @default.
- W3023262725 workType "article" @default.