What question did this study set out to answer?

This report aims to explore the diverse clinical manifestations of Carney Complex in pediatric patients.

January 10, 2026Open Access

Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases

İAİlayda AltunIstanbul University-Cerrahpaşa HTHande TuranIstanbul University-Cerrahpaşa ADAydilek DağdevirenIstanbul University-Cerrahpaşa

Key Result

In three pediatric cases of Carney Complex, diverse clinical presentations led to serious complications requiring individualized management strategies, including bilateral adrenalectomy.

Key Points

This report aims to explore the diverse clinical manifestations of Carney Complex in pediatric patients.
Presented three distinct pediatric cases of Carney Complex
Detailed clinical assessments and follow-up
Highlighted unique manifestations and complications for each case
Case 1 developed ACTH-independent cyclic Cushing syndrome and required bilateral adrenalectomy
Case 2 presented with various tumors and later developed hypocortisolism and complications like precocious puberty
Case 3 experienced adrenal insufficiency and recurring cardiac myxoma, necessitating surgical intervention

Structured PICO

Population

3 pediatric patients (ages 9-12, 2 females, 1 male) with Carney Complex (CNC) presenting with various endocrine and non-endocrine manifestations, including primary pigmented nodular adrenocortical disease (PPNAD), pituitary adenomas, and recurrent cardiac myxoma.

Intervention

Individualized multidisciplinary management including surgical resections (bilateral adrenalectomy, cardiac myxoma resection, transsphenoidal resection) and medical therapy (hydrocortisone, fludrocortisone, somatostatin analogues).

Outcome

Clinical presentation, genetic variants (PRKAR1A mutations), and patient outcomes over time.

Carney Complex exhibits significant clinical heterogeneity and lacks a consistent genotype-phenotype correlation, necessitating individualized multidisciplinary management and lifelong surveillance for life-threatening complications like recurrent cardiac myxomas.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplasms, primarily driven by mutations in the PRKAR1A gene. This study explores the clinical heterogeneity in CNC patients, with a focus on adrenal and extra adrenal involvement and its impact on patient outcomes. We present three pediatric cases with unique clinical manifestations. Case 1: A 12-year-old female with ACTH-independent cyclic Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). The patient's condition progressed, leading to complications such as obesity, depression, and short stature, ultimately requiring bilateral adrenalectomy. Case 2: A 9-year-old male presented with an intranasal osteochondromyxoma and a large cell calcifying sertoli cell tumor. In the followup he developed hypocortisolism secondary to ACTH deficiency, with further complications including central precocious puberty and a growth hormone-secreting pituitary adenoma. Case 3: A 12-year-old female with adrenal insufficiency due to ACTH deficiency, complicated by a pituitary adenoma and a recurrent cardiac myxoma. Over time, the patient developed ACTH-independent Cushing syndrome secondary to PPNAD, necessitating bilateral adrenalectomy. Multiple fusiform aneurysms were also discovered after the recurrence of atrial myxoma. All cases highlight the absence of a consistent genotype-phenotype correlation in CNC, emphasizing the need for individualized management strategies. The findings underscore the complexity of diagnosing and treating CNC, particularly in pediatric populations, and call for further research into the underlying molecular mechanisms to develop more targeted therapies.

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