ESPE2024 Poster Category 2 Growth and Syndromes (39 abstracts)
Taipei Veterans General Hospital, Taipei, Taiwan. National Yang Ming Chiao Tung University, Taipei, Taiwan
Background: Cushing's syndrome (CS) is a rare condition in children, with exogenous glucocorticoid administration being the most common etiology. Corticotropin-independent CS caused by bilateral adrenal hyperplasia or multiple adenomas is exceptionally uncommon in this age group.
Case Presentation: A 6-year-1-month-old girl from Kinmen presented with a 2-year history of growth retardation and a 1-year history of developing classical cushingoid features, including a swollen face, dorsocervical fat pad, hirsutism, and violaceous abdominal striae. She had significant hypertension with systolic blood pressure up to 150 mmHg, requiring antihypertensive medications. Anthropometric measurements revealed severe short stature (height <3rd percentile) with obesity (weight 85-97th percentile). Abdominal computed tomography (CT) revealed bilateral adrenal hyperplasia or multiple adenomas. Brain magnetic resonance imaging (MRI) ruled out a pituitary lesion, suggesting a corticotropin-independent etiology. Endocrine evaluation confirmed corticotropin-independent CS.
Intervention: Due to the bilateral nature of the adrenal pathology, the patient underwent bilateral adrenal CT-guided radiofrequency ablation (RFA) to treat the adrenal hyperplasia or multiple adenomas.
Conclusion: This case underscores the importance of considering CS in children presenting with rapid weight gain and growth retardation, even though it is an uncommon condition in this age group. Although rare in pediatrics, bilateral adrenal hyperplasia or multiple adenomas can cause corticotropin-independent CS, as demonstrated in this case. Adrenal thermal ablation, such as RFA, emerged as an effective alternative to adrenalectomy in this patient, offering a minimally invasive approach. However, careful perioperative management is crucial to mitigate potential complications like hypertensive crises, which can be mitigated by preoperative adrenergic blockade. Early recognition and appropriate management of CS in children are essential to prevent long-term consequences and improve outcomes.