Carney Complex- Why Thorough Medical History Taking is So Important - Report of Three Cases and Review of the Literature

Overview

Journal Endocrine

Specialty Endocrinology

Date 2022 Oct 18

PMID 36255590

Authors

B Harbeck

J Flitsch

I Kreitschmann-Andermahr

Affiliations

Soon will be listed here.

Abstract

Purpose: To present a new case series and to review the literature on Carney complex (CNC) with an emphasis on highlighting key clinical features of the disease and pointing out possibilities of shortening the diagnostic process.

Method: Searches of PubMed, identifying relevant reports up to April 2022.

Results: CNC is a rare, autosomally dominant inherited neoplasia -endocrinopathy syndrome with high clinical variability, even among members of the same family. Data on length of diagnostic process are scarce with numerous case series reporting a diagnostic delay of decades. Suggestions to shorten the diagnostic process includes awareness of the multi-faceted clinical presentations of CNC, thorough history taking of index patients and family members and awareness of diagnostic pitfalls. Importantly, unusual symptom combinations should alert the clinician to suspect a rare endocrinopathy syndrome such as CNC. Already present and coming on the horizon are databases and novel phenotyping technologies that will aid endocrinologists in their quest for timely diagnosis.

Conclusion: In this review, we examine the current state of knowledge in CNC and suggest avenues for shortening the diagnostic journey for the afflicted patients.

Citing Articles

Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease.

Wernig J, Pilz S, Trummer C, Theiler-Schwetz V, Schmitt L, Tsybrovskyy O JCEM Case Rep. 2024; 2(10):luae174.

PMID: 39355138 PMC: 11443333. DOI: 10.1210/jcemcr/luae174.

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