Carney complex due to a novel pathogenic variant in the PRKAR1A gene – a case report
-
Sofia H. Ferreira
,
Maria M. Costa
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.
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.
References
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Articles in the same Issue
- Frontmatter
- Mini Review
- Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
- Original Articles
- Assessment of biomarkers of inflammation and premature atherosclerosis in adolescents with type-1 diabetes mellitus
- Frequency, clinical characteristics, biochemical findings and outcomes of DKA at the onset of type-1 DM in young children and adolescents living in a developing country – an experience from a pediatric emergency department
- Hepatopathies in children and adolescents with type 1 diabetes
- Comparative evaluation of neuroendocrine dysfunction in children with craniopharyngiomas before and after mass effects are removed
- Functional and endocrine-metabolic oligomenorrhea: proposal of a new diagnostic assessment tool for differential diagnosis in adolescence
- Socioeconomic status of the population – a prime determinant in evaluating iodine nutritional status even in a post salt iodization scenario
- Long-term outcome of hyperthyroidism diagnosed in childhood and adolescence: a single-centre experience
- Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients
- Maternal factors associated with neonatal vitamin D deficiency
- IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
- One-year treatment with gonadotropin-releasing hormone analogues does not affect body mass index, insulin sensitivity or lipid profile in girls with central precocious puberty
- Letter to the Editor
- Prediabetes in children and adolescents in the United States: prevalence estimates and comorbidities – a population analysis
- Case Reports
- Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation
- Carney complex due to a novel pathogenic variant in the PRKAR1A gene – a case report
- Challenging diagnosis of thyroid hormone resistance initially as Hashimoto’s thyroiditis
