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Pediatric Cushing Syndrome; an Overview.
Christina Tatsi1, Constantine A Stratakis2
1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, 20892, USA.
Endogenous Cushing syndrome (CS) is rare in children, presenting with growth issues and classic signs. Diagnosis requires cortisol tests, and treatment involves surgery for the hypercortisolemia source.
Area of Science:
- Pediatric Endocrinology
- Endocrinology
- Rare Diseases
Background:
- Endogenous Cushing syndrome (CS) is uncommon in children.
- Pediatric CS often manifests as height deceleration and weight gain.
- Classic symptoms include acne, striae, and hirsutism.
Purpose of the Study:
- To outline the diagnostic and localization strategies for pediatric Cushing syndrome.
- To emphasize the importance of early diagnosis and appropriate management.
Main Methods:
- Diagnosis involves documenting abnormal cortisol secretion via urinary free cortisol and midnight serum/salivary cortisol.
- The 1mg dexamethasone suppression test is a key diagnostic tool.
- Localization differentiates ACTH-dependent from ACTH-independent CS.
Main Results:
- Abnormal cortisol secretion confirms CS diagnosis.
- Differentiating ACTH-dependent vs. independent causes is crucial for localization.
- Surgical resection is the primary treatment when feasible.
Conclusions:
- Prompt diagnosis and localization are essential for managing pediatric Cushing syndrome.
- Surgical intervention offers the best treatment outcome for CS.
- Understanding CS pathophysiology guides effective therapeutic strategies.
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