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Cushing's Syndrome in Pediatrics: An Update
Maya B Lodish1, Margaret F Keil1, Constantine A Stratakis1
1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1E-3330, MSC1103, Bethesda, MD 20892, USA.
Summary
Cushing syndrome (CS) in children, often caused by steroid medication, presents with slowed growth and weight gain. Early diagnosis and expert care are crucial for managing this serious condition.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Genetics
Background:
- Cushing syndrome (CS) is a complex multisystem disorder caused by prolonged excess glucocorticoid exposure.
- In pediatric populations, exogenous steroid administration is the most frequent cause of CS.
- Typical clinical signs include height deceleration and weight gain.
Purpose of the Study:
- To summarize the key aspects of Cushing syndrome in children.
- To highlight the common causes, clinical presentations, and genetic associations.
- To emphasize the importance of early detection and specialized care.
Main Methods:
- Review of clinical presentations and common etiologies of pediatric Cushing syndrome.
- Discussion of associated germline and somatic mutations.
- Reference to available clinical practice guidelines.
Main Results:
- Exogenous steroid administration is the predominant cause of CS in children.
- Height deceleration and weight gain are hallmark clinical features.
- Distinct germline and somatic mutations are linked to CS.
- Clinical practice guidelines exist to aid management.
Conclusions:
- Prompt identification and treatment of pediatric Cushing syndrome are vital.
- Referral to multidisciplinary centers specializing in endocrinology and surgery is recommended.
- Effective management reduces significant acute and long-term morbidity and mortality risk.