Paediatric Cushing syndrome: a prospective, multisite, observational cohort study

Area of Science:

• Pediatric Endocrinology
• Rare Endocrine Diseases
• Cushing Syndrome Pathophysiology

Background:

• Paediatric endogenous Cushing syndrome is a rare endocrine disorder with diverse clinical presentations.
• Accurate diagnosis and management are often challenging due to symptom variability.
• Understanding the specific characteristics of paediatric Cushing syndrome is crucial for effective patient care.

Purpose of the Study:

• To describe the anthropometric, clinical, and biochemical features of paediatric endogenous Cushing syndrome.
• To identify common complications and long-term outcomes in children with this condition.
• To provide data that aids in the diagnosis, treatment, and management of paediatric Cushing syndrome.

Main Methods:

• A prospective, multisite cohort study involving children and adolescents (≤18 years) diagnosed with Cushing syndrome.
• Collection of clinical, biochemical, and imaging data, along with post-operative course monitoring.
• Analysis of data from 342 paediatric patients with Cushing syndrome.

Main Results:

• The study included 342 patients: 76% with Cushing disease, 22% with adrenal-associated Cushing syndrome, and 2% with ectopic Cushing syndrome.
• Diagnosis occurred a median of 2 years after symptom onset, with adrenal-associated cases diagnosed youngest.
• Common complications included hypertension (52%), hyperglycaemia (30%), elevated ALT (64%), and dyslipidaemia (48%).
• Ectopic Cushing syndrome showed significantly higher urinary free cortisol levels compared to other subtypes.

Conclusions:

• This large cohort provides extensive insights into paediatric Cushing syndrome, aiding diagnostic workup.
• Findings can inform preventative strategies and follow-up protocols for children with this rare endocrine condition.
• Understanding subtype-specific features and common complications is key for optimizing patient management.