SAT-012 - Cushing Disease Due to Pituitary Macroadenoma in an Adolescent: Case Report

Introduction: Cushing’s disease (CD) is rare in paediatric practice but requires prompt investigation, diagnosis and therapy to prevent long-term complications. Algorithm studies comprise confirmation of hypercortisolism state and characterization into ACTH dependent or independent group. Once ACTH dependent CD is diagnosed, finding the source of ACTH is mandatory, since surgical removal of the ACTH producing tumor is the first line treatment. Magnetic resonance imaging is the primary tool for localization, and characterization of ACTH-secreting tumors. Approximately 90% are microadenomas (most are less than 6 mm). Macroadenomas account for 10% of corticotroph adenoma in adults and are extremely rare in children. Recent guidelines strongly recommend genetic assessment to children and young people (CYP) with a pituitary adenoma in order to plan management and family surveillance.

Case Report: A 15.4 years old female patient was referred because of 1 year of amenorrhea and weight gain. She was previously diagnosed with polycystic ovary syndrome and was treated with contraceptive pills, metformin and spironolactone. At first visit her Weight was 85 kg (3.5 SDS), Height 153 cm (-1.1 SDS), BMI 36.31 (3 SDS) and she had facial plethora, dorsal hump, purple striae, hirsutism, and acne. Workup confirmed ACTH dependent Cushing Syndrome and MRI showed a large, solid, expansive lesion of 39 x 27 x 29 mm involving the sellar and suprasellar regions, Endoscopic surgery was performed and pathology confirmed a pituitary adenoma of the Tpit lineage, secreting ACTH.
During the postoperative evaluation, she presented with secondary adrenal insufficiency, recovering Hypothalamic-Pituitary-Adrenal axis three months after surgery. The rest of her pituitary function remained normal, and she resumed menstrual cycles 45 days after surgery. She has now been disease-free for six months. Molecular studies were done (hereditary cancer genes panel) with pending results.

Conclusion: CD due to macroadenoma is rare in CYP. We report a girl with long standing Cushing symptoms who had a large ACTH secreting macroadenoma. Despite of the size, she is on remission until now, with normal pituitary function. Genetic cause is still under investigation.

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