MON-514 - Pathologic Fractures in Pregnancy: A Rare Presentation of Cushing'S Syndrome

Introduction: Cushing’s syndrome (CS) in pregnancy is rare and carries a significant risk for both the mother and fetus. Diagnosis of CS may be difficult as patients present with similar symptoms and hormonal changes to those expected during normal pregnancy.

Case Presentation: A 28-year-old G8P3 female presented at 17 weeks’ gestation with past medical history of multiple recent pathologic fractures and bilateral avascular necrosis of hips was found to have Cushing's syndrome with serum cortisol 23.8 ug/dl (656.6 nmol/L), adrenocorticotropic hormone (ACTH) < 1.5 pg/ml (0.33 pmol/L), urinary free cortisol elevated at 1,883 ug/d (51,944.8 nmol/L), and a 4.1 cm right adrenal adenoma. Adrenalectomy was planned; however, the clinical course was complicated by bilateral femoral neck fractures requiring surgery. Treatment was started with metyrapone 250 mg by mouth four times daily in an attempt to acutely lower cortisol levels to protect the mother, the fetus, and allow for optimal post-operative wound healing.

Discussion: Cushing’s syndrome (CS) in pregnancy is rare (~270 documented cases to date) with an estimated prevalence of 1 to 2 cases per 100,000 births and carries a significant risk for both the mother and fetus (1). Maternal complications occur frequently (50-70%), most commonly developing hypertension (40-68%), preeclampsia (12-26%), impaired glucose tolerance or diabetes mellitus (26-37%), osteoporosis (5%), fractures, poor wound healing, and infections (2%), severe psychiatric complications (4%), heart failure (2%), and even death (0.7 -2%)1. Laboratory thresholds to establish a diagnosis of CS in pregnancy vary between trimesters (1). The preferred treatment option is surgery with pituitary adenectomy or adrenalectomy in the second trimester (1). There are currently no medications approved to treat CS in pregnancy, and when medical management is being considered for those waiting for surgery or for those at imminent risk, the options are limited to metyrapone or ketoconazole (1).

Conclusion: CS and pregnancy cause elevated cortisol levels and similar symptoms, which pose a diagnostic challenge. The preferred treatment is surgery (either pituitary or adrenal) in the second trimester, as many of the medications are lacking strong evidence of efficacy and safety and pose a significant risk for the mother and fetus. Coordination by a multidisciplinary care team with an individualized approach is recommended.

Acknowledgments: None.

References: 1. Livia Gheorghiu M, Fleseriu M. Conundrums of Diagnosis and Management of Cushing's Syndrome in Pregnancy. Endocrinol Metab Clin North Am. 2024 Sep;53(3):421-435. doi: 10.1016/j.ecl.2024.05.007. PMID: 39084817.

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