Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine Perspective

Biochemical confirmation of a diagnosis of hypercortisolism (Cushing syndrome) is vital to direct further investigations, especially given the overlap with non-autonomous conditions, such as pseudo-Cushing, and the morbidity associated with missed diagnoses. A limited narrative review was performed...

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Main Authors: Kade C. Flowers, Kate E. Shipman
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Diagnostics
Subjects:
Online Access:https://www.mdpi.com/2075-4418/13/8/1415
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author Kade C. Flowers
Kate E. Shipman
author_facet Kade C. Flowers
Kate E. Shipman
author_sort Kade C. Flowers
collection DOAJ
description Biochemical confirmation of a diagnosis of hypercortisolism (Cushing syndrome) is vital to direct further investigations, especially given the overlap with non-autonomous conditions, such as pseudo-Cushing, and the morbidity associated with missed diagnoses. A limited narrative review was performed focusing on the laboratory perspective of the pitfalls of making a biochemical diagnosis of hypercortisolism in those presenting with presumed Cushing syndrome. Although analytically less specific, immunoassays remain cheap, quick, and reliable in most situations. Understanding cortisol metabolism can help with patient preparation, specimen selection (e.g., consideration of urine or saliva for those with possible elevations of cortisol binding globulin concentration), and method selection (e.g., mass spectrometry if there is a high risk of abnormal metabolites). Although more specific methods may be less sensitive, this can be managed. The reduction in cost and increasing ease of use makes techniques such as urine steroid profiles and salivary cortisone of interest in future pathway development. In conclusion, the limitations of current assays, particularly if well understood, do not impede diagnosis in most cases. However, in complex or borderline cases, there are other techniques to consider to aid in the confirmation of hypercortisolism.
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spelling doaj.art-63e3aed0841547fca84d8ee98d00645f2023-11-17T18:54:47ZengMDPI AGDiagnostics2075-44182023-04-01138141510.3390/diagnostics13081415Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine PerspectiveKade C. Flowers0Kate E. Shipman1Department of Clinical Chemistry, University Hospitals Sussex NHS Trust, Worthing BN11 2DH, UKDepartment of Clinical Chemistry, University Hospitals Sussex NHS Trust, Worthing BN11 2DH, UKBiochemical confirmation of a diagnosis of hypercortisolism (Cushing syndrome) is vital to direct further investigations, especially given the overlap with non-autonomous conditions, such as pseudo-Cushing, and the morbidity associated with missed diagnoses. A limited narrative review was performed focusing on the laboratory perspective of the pitfalls of making a biochemical diagnosis of hypercortisolism in those presenting with presumed Cushing syndrome. Although analytically less specific, immunoassays remain cheap, quick, and reliable in most situations. Understanding cortisol metabolism can help with patient preparation, specimen selection (e.g., consideration of urine or saliva for those with possible elevations of cortisol binding globulin concentration), and method selection (e.g., mass spectrometry if there is a high risk of abnormal metabolites). Although more specific methods may be less sensitive, this can be managed. The reduction in cost and increasing ease of use makes techniques such as urine steroid profiles and salivary cortisone of interest in future pathway development. In conclusion, the limitations of current assays, particularly if well understood, do not impede diagnosis in most cases. However, in complex or borderline cases, there are other techniques to consider to aid in the confirmation of hypercortisolism.https://www.mdpi.com/2075-4418/13/8/1415hypercortisolismCushing syndromeanalyticalspuriousmass spectrometrydexamethasone
spellingShingle Kade C. Flowers
Kate E. Shipman
Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine Perspective
Diagnostics
hypercortisolism
Cushing syndrome
analytical
spurious
mass spectrometry
dexamethasone
title Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine Perspective
title_full Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine Perspective
title_fullStr Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine Perspective
title_full_unstemmed Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine Perspective
title_short Pitfalls in the Diagnosis and Management of Hypercortisolism (Cushing Syndrome) in Humans; A Review of the Laboratory Medicine Perspective
title_sort pitfalls in the diagnosis and management of hypercortisolism cushing syndrome in humans a review of the laboratory medicine perspective
topic hypercortisolism
Cushing syndrome
analytical
spurious
mass spectrometry
dexamethasone
url https://www.mdpi.com/2075-4418/13/8/1415
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