SHM Converge Scientific Abstract ePoster Gallery-Hormones Gone Rogue: Renal Cell Carcinoma Causing Cushing Syndrome in Birt-Hogg-Dubé Syndrome

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This case describes a rare presentation of Cushing syndrome caused by renal cell carcinoma in a patient with Birt-Hogg-Dubé syndrome (BHDS). The patient had symptoms including psychosis and depression, which can occur from excess cortisol. Imaging with CT and MRI identified a 2.2 × 2.4 × 1.8 cm mass in the right kidney, suspected to be the source of ACTH production.<br /><br />She underwent a partial nephrectomy. After surgery, she received 10 mg dexamethasone for glucocorticoid replacement, and her ACTH and cortisol levels normalized. However, two days later she developed confusion and hypotension, requiring stress-dose hydrocortisone (50 mg every 6 hours), which was tapered over four days.<br /><br />Pathology confirmed chromophobe renal cell carcinoma. Genetic testing revealed an FLCN mutation, establishing the diagnosis of BHDS. Following surgery, her psychotic symptoms resolved. She was discharged on hydrocortisone 30 mg twice daily with plans for outpatient endocrine and oncology follow-up.<br /><br />Overall, the report highlights an unusual endocrine and psychiatric presentation of RCC and underscores the importance of considering hormone-producing tumors in patients with unexplained Cushing syndrome, especially when linked to hereditary cancer syndromes like BHDS.

Asset Subtitle

Talal Alomar

Meta Tag

Author List Guangming Guo, Mohamad Horani, Rahul Mehan, Talal Alomar, Wishwdeep Dhillon

Category Clinical Vignettes

Concept Cushing Syndrome

Concept Cortisol

Concept Ectopic ACTH

Concept Renal Cell Carcinoma

Concept Glucocorticoid Replacement

Distinguished Non-Finalist

Presenter Organization Ucla

Presenting Author Talal Alomar

Track Adult

Keywords

Cushing syndrome

renal cell carcinoma

Birt-Hogg-Dubé syndrome

ACTH production

psychosis

depression

chromophobe carcinoma

partial nephrectomy

cortisol excess

FLCN mutation

Cushing Syndrome

Cortisol

Ectopic ACTH

Renal Cell Carcinoma

Glucocorticoid Replacement