Challenges in Diagnosis and Treatment of Cushing's Disease in a 12-Year-Old Boy
February 2025
in “
La Pediatria Medica e Chirurgica
”
TLDR The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.
A 12-year-old Albanian boy with Cushing's Disease faced a complex diagnostic and treatment journey. Initially presenting with symptoms like headaches, rapid weight gain, stunting, and increased body hair, he was pre-diagnosed with Cushing Syndrome. Despite inconsistent imaging results, a thoracic CT suggested a pulmonary tuberculosis granuloma, complicating the diagnosis. The critical breakthrough came from an intervention collecting samples from the inferior petrosal sinus during a CRH test, revealing a left-side ACTH-secreting focus. Treatment involved left hemi-hypophysectomy using gamma knife therapy, which successfully normalized hypercortisolism but resulted in growth hormone deficiency.
