Objective:

To report a case of a 5-year-old girl with Carney complex presenting with Cushing's syndrome and subsequent growth hormone hypersecretion, highlighting the clinical features and diagnostic process.

Approach:

• Case Presentation: A 5-year-old girl presented with rapid weight gain, facial changes, hypertension, hypokalemic alkalosis, and kidney stones. Biochemical evaluation confirmed ACTH-independent Cushing's syndrome, and abdominal MRI revealed bilateral adrenal nodules consistent with primary pigmented nodular adrenocortical disease. Genetic testing confirmed Carney complex.
• Diagnosis: Diagnosis of Cushing's syndrome was confirmed through biochemical tests and MRI, revealing bilateral adrenal nodules consistent with primary pigmented nodular adrenocortical disease.
• Follow-up: At 8.6 years, the patient exhibited accelerated growth and elevated IGF-1 levels, with no suppression of GH during glucose tolerance testing. Monitoring continued without immediate treatment for GH excess.

Key Findings:

• The patient was diagnosed with ACTH-independent Cushing's syndrome due to PPNAD.
• Genetic testing revealed a mutation in the PRKAR1A gene, confirming Carney complex.
• Growth hormone hypersecretion was observed earlier than typical screening recommendations suggest.

Interpretation:

This case emphasizes the need for genetic testing in pediatric patients with Cushing's syndrome and highlights the potential for early growth hormone hypersecretion in Carney complex.

Limitations:

• The case is based on a single patient, limiting generalizability.
• Long-term outcomes and the need for treatment for GH excess were not established.

Conclusion:

The findings suggest the importance of surveillance for growth hormone hypersecretion in children with Cushing's syndrome and Carney complex.