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Cushing disease in pediatrics: an update
Marcio José Concepción-Zavaleta1, Cristian David Armas2, Juan Eduardo Quiroz-Aldave3
1Universidad Cientifica del Sur, Lima, Perú.
Insights
Cushing disease (CD) in children, caused by pituitary adenomas, hinders growth and development. Early diagnosis and treatment are crucial for managing hypercortisolism and improving outcomes in pediatric patients.
Area of Science:
- Pediatric Endocrinology
- Neuroendocrinology
- Oncology
Background:
- Cushing disease (CD) is a primary cause of endogenous Cushing syndrome (CS), driven by ACTH-producing pituitary adenomas.
- In pediatric patients, CD significantly impacts growth and development due to hypercortisolism.
- Key childhood CS symptoms include weight gain, facial changes, hirsutism, virilization, and acne.
Purpose of the Study:
- To provide a comprehensive overview of Cushing disease in the pediatric population.
- To summarize current knowledge on the pathophysiology, diagnosis, and treatment of pediatric CD.
- To highlight the challenges and importance of early management in children.
Main Methods:
- This narrative review synthesizes existing literature on pediatric Cushing disease.
- It covers diagnostic criteria, including biochemical tests and pathological confirmation.
- Treatment modalities such as surgery, medication, and radiotherapy are discussed.
Main Results:
- Diagnostic confirmation relies on establishing endogenous hypercortisolism and ACTH dependence, followed by pathology.
- Treatment aims to normalize cortisol levels and alleviate clinical signs and symptoms.
- Management strategies encompass surgical, medical, radiotherapeutic, or combined approaches.
Conclusions:
- Cushing disease in children presents unique challenges due to its effects on growth and pubertal development.
- Early diagnosis and intervention are essential for controlling hypercortisolism and optimizing prognosis.
- The rarity of pediatric CD necessitates increased physician experience and awareness for effective management.
Abstract:
Cushing disease (CD) is the main cause of endogenous Cushing syndrome (CS) and is produced by an adrenocorticotropic hormone (ACTH)-producing pituitary adenoma. Its relevance in pediatrics is due to the retardation of both growth and developmental processes because of hypercortisolism. In childhood, the main features of CS are facial changes, rapid or exaggerated weight gain, hirsutism, virilization, and acne. Endogenous hypercortisolism should be established after exogenous CS has been ruled out based on 24-hour urinary free cortisol, midnight serum or salivary cortisol, and dexamethasone suppression test; after that, ACTH dependence should be established. The diagnosis should be confirmed by pathology. The goal of treatment is to normalize cortisol level and reverse the signs and symptoms. Treatment options include surgery, medication, radiotherapy, or combined therapy. CD represents a challenge for physicians owing to its multiple associated conditions involving growth and pubertal development; thus, it is important to achieve an early diagnosis and treatment in order to control hypercortisolism and improve the prognosis. Its rarity in pediatric patients has led physicians to have limited experience in its management. The objective of this narrative review is to summarize the current knowledge about the pathophysiology, diagnosis, and treatment of CD in the pediatric population.
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