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

• Tipo: Artigo em Revista Científica Internacional
• Data: 2019

Autores

Ferreira, SH (Autor) Outra; Antonia Costa (Autor) FMUP; Rios, E (Autor) Outra; Silva, RS (Autor) FMUP; Costa, C (Autor) FMUP; C Correia (Autor) FMUP; Fontoura M (Autor) FMUP

Revista

Título: Journal of Pediatric Endocrinology and Metabolism

Vol. 32 Nº 3

Páginas: 197-202

ISSN: 0334-018X

Editora: Walter De Gruyter

Indexação

ISI Web of Knowledge - 2 Citações

Scopus - 1 Citação

Outras Informações

ID Authenticus: P-00Q-6ZN

DOI: 10.1515/jpem-2018-0199

Abstract (EN): 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.

Idioma: Inglês

Tipo (Avaliação Docente): Divulgação

Nº de páginas: 6