Cushing Syndrome in Infants
Cushing Syndrome in Infants Cushing syndrome, a condition characterized by excess cortisol in the body, is relatively rare in infants but can have significant health implications if not diagnosed and managed promptly. Cortisol, often called the “stress hormone,” plays a vital role in regulating metabolism, immune response, and blood pressure. When its levels are abnormally high, it can disrupt normal growth and development, especially in vulnerable populations like infants.
In infants, Cushing syndrome can be classified as either endogenous or exogenous. Endogenous Cushing syndrome results from the body producing too much cortisol, often due to tumors in the adrenal glands or the pituitary gland. Exogenous Cushing syndrome, on the other hand, occurs due to prolonged use of corticosteroid medications, which are sometimes prescribed for various inflammatory or autoimmune conditions. In infants, endogenous causes are more common, although medication-induced cases can occur if corticosteroids are used for treatment.
The symptoms of Cushing syndrome in infants can be subtle and may develop gradually, making early diagnosis challenging. Common signs include rapid weight gain, particularly in the face (leading to a “moon face” appearance), a rounded or “buffalo hump” of fat between the shoulders, and thinning of the skin that bruises easily. Infants may also experience growth retardation, muscle weakness, irritability, and high blood pressure. In some cases, there might be delayed developmental milestones or unusual fragile skin that is prone to tearing.
Diagnosis begins with a thorough clinical evaluation, including a detailed medical history and physical examination. Laboratory tests are essential to confirm elevated cortisol levels and determine the source of excess production. These tests may include 24-hour urinary free cortisol measurement, late-night salivary cortisol tests,
and dexamethasone suppression tests. Imaging studies such as MRI or CT scans can help identify tumors in the adrenal or pituitary glands if endogenous Cushing syndrome is suspected.
Treatment strategies depend on the underlying cause. If a tumor is producing excess cortisol, surgical removal is often necessary and can be curative. In cases caused by external corticosteroid use, gradually tapering the medication under medical supervision is crucial to prevent adrenal insufficiency. For infants with adrenal tumors, pediatric endocrinologists and surgeons collaborate to ensure safe removal and post-operative care.
Managing Cushing syndrome in infants requires a multidisciplinary approach involving endocrinologists, pediatricians, surgeons, and often psychologists to address the physical and emotional impacts of the condition. Early diagnosis and intervention are critical to prevent long-term complications such as impaired growth, osteoporosis, and neurodevelopmental issues. Follow-up care is vital to monitor hormone levels and ensure complete recovery.
Although Cushing syndrome in infants is uncommon, awareness of its signs and symptoms can facilitate early detection. Advances in diagnostic techniques and surgical interventions have improved outcomes, enabling many affected infants to lead healthy lives post-treatment. Raising awareness among healthcare providers and parents alike is essential to ensure timely diagnosis and appropriate management.
