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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2017: 1.086

CiteScore 2017: 1.07

SCImago Journal Rank (SJR) 2017: 0.465
Source Normalized Impact per Paper (SNIP) 2017: 0.580

Online
ISSN
2191-0251
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Volume 32, Issue 2

Issues

Carney complex due to a novel pathogenic variant in the PRKAR1A gene – a case report

Sofia H. Ferreira / Maria M. Costa
  • Department of Endocrinology, Diabetes and Metabolism of Centro Hospitalar de São João, Porto, Portugal
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Elisabete Rios / Rita Santos Silva / Carla Costa / Cíntia Castro-Correia / Manuel Fontoura
Published Online: 2019-01-30 | DOI: https://doi.org/10.1515/jpem-2018-0199

Abstract

Background

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing’s syndrome (CS). It may occur sporadically or as part of a familial syndrome called Carney complex (CC). It is a rare entity, with fewer than 750 cases reported.

Case presentation

We describe the case of a 16-year-old otherwise healthy female referred to our endocrinology department for progressive weight gain. During investigation, an adrenocorticotropic hormone (ACTH) independent CS was identified and the possibility of an adrenocortical tumor was suggested. The histological exam of the left adrenal gland was compatible with PPNAD. Genetic study identified a novel pathogenic variant in the PRKAR1A gene. Her family history was then reviewed and her father had died prematurely due to a cardiac myxoma. Besides abnormal skin pigmentation, the girl presented no other features of CC.

Conclusions

Careful follow-up of these patients is important to detect other manifestations of CC and to prevent life-threatening comorbidities, like cardiac myxomas or malignant diseases. Genetic counseling of the patients and their siblings is also very important.

Keywords: carney complex; cushing’s syndrome; primary pigmented nodular adrenocortical disease

References

About the article

Corresponding author: Sofia H. Ferreira, MMed, Department of Pediatrics of Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal


Received: 2018-05-08

Accepted: 2018-11-24

Published Online: 2019-01-30

Published in Print: 2019-02-25


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 32, Issue 2, Pages 197–202, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2018-0199.

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