From the Guidelines
Cushing's syndrome is most commonly diagnosed in children around the age of 12.3 years, with a range of 5.7-17.8 years, and it is more prevalent in boys, especially in prepubertal stages. The condition presents with a characteristic set of symptoms including central obesity, rounded "moon face," buffalo hump (fat accumulation between the shoulders), purple stretch marks, thin skin that bruises easily, muscle weakness, high blood pressure, high blood sugar, and mood disturbances. According to a recent study published in Nature Reviews Endocrinology 1, Cushing disease accounts for 75-80% of cases in children and adolescents, and it is caused by an adrenocorticotropin (ACTH)-secreting pituitary adenoma. The incidence of Cushing disease in children is approximately 10% of that in adults, with a mean age at presentation of 12.3 ± 3.5 years. Key characteristics of the disease in children include:
- Male predominance, especially in prepubertal stages, with 63% of patients being boys
- More aggressive disease in boys, with elevated BMI, shorter height, and higher plasma ACTH levels
- Microadenomas as the most common cause, accounting for 98% of cases
- Rare occurrence of macroadenomas, often showing invasion of the cavernous sinus, in children (2-5% of cases). Early recognition and diagnosis of Cushing's syndrome are crucial to prevent long-term complications such as diabetes, osteoporosis, and cardiovascular disease.
From the Research
Presentation and Diagnosis of Cushing's Syndrome
- Cushing's syndrome is a complex endocrine condition with potential serious complications if untreated or inadequately treated 2.
- The clinical presentation is variable and because some Cushing's syndrome signs and symptoms are common in the general population, the diagnosis might not be considered until many features have accumulated 3.
- Evaluation of patients with possible Cushing's syndrome begins with ruling out exogenous steroid use, and screening for elevated cortisol is performed with a 24-hour urinary free cortisol test or late-night salivary cortisol test or by evaluating whether cortisol is suppressed the morning after an evening dexamethasone dose 4.
Age of Diagnosis
- There is no specific information available in the provided studies regarding the exact age at which people are diagnosed with Cushing's syndrome.
- However, it is known that Cushing's syndrome can occur at any age, and the incidence of Cushing's syndrome due to endogenous overproduction of cortisol is estimated to be 2 to 8 people per million annually 4.
Diagnostic Challenges
- The diagnosis of Cushing's syndrome might be challenging due to its variable presentation and the fact that some of its signs and symptoms are common in the general population 3.
- A thorough evaluation, including screening tests and imaging studies, is necessary to confirm the diagnosis and determine the underlying cause of Cushing's syndrome 4, 3.