(CSEMP033) CUSHING'S SYNDROME IN PREGNANCY: NAVIGATING THE DIAGNOSTIC COMPLEXITIES AND MANAGEMENT CHALLENGES

Abstract:

Background: Diagnosing Cushing’s syndrome (CS) during pregnancy is extremely challenging due to the physiological hypercortisolism present during pregnancy. An accurate diagnosis requires a high index of suspicion, given the overlapping signs and symptoms of pregnancy and CS. It is crucial to approach the interpretation of excess cortisol production tests in pregnant patients with caution, utilizing adjusted upper limits of normal criteria (1). Early identification and management are essential to mitigate maternal and fetal complications.

Case: A 33-year-old woman G1 at 29 weeks gestational age (GA) was admitted to our institution for suspected CS based on an elevated 24-hour urinary free cortisol (24-h UFC) level at 2688 nmol/day (reference range: 28-276 nmol/day). Her medical history included type 2 diabetes, adiposity-based chronic disease, heart failure, pulmonary hypertension, and gestational hypertension. Throughout her pregnancy, she had several hospitalizations, including legionella pneumonia, heart failure exacerbation, cellulitis, and pulmonary embolism.
The patient did not have the characteristic clinical signs of CS, such as skin fragility, proximal myopathy, or moon facies. Laboratory and imaging investigations confirmed the diagnosis of ACTH-independent CS secondary to a 4 cm right adrenal adenoma, with consistently elevated 24-h UFC and midnight salivary cortisol levels, and a suppressed ACTH.
A multidisciplinary team including Endocrinology, Obstetrics and General Surgery collaborated in managing the patient’s diagnosis. After careful consideration, the patient was safely discharged with a plan to induce labour at 34 weeks. Postponing the right adrenalectomy until after delivery was decided due to the high risk of perioperative morbidity associated with the procedure. Endocrinology initiated the process of obtaining metyrapone through Health Canada to medically manage the patient’s hypercortisolism.
The patient missed her outpatient appointments. During a follow-up fetal ultrasound 3 weeks after her discharge, fetal distress was detected necessitating an emergency cesarean-section. A post-delivery dexamethasone suppression test confirmed persistently elevated cortisol levels and suppressed ACTH, indicating the need for a definitive cure through adrenalectomy. Due to delayed arrival of metyrapone and the patient's refusal of postpartum treatment, medical management was not attempted. Following a stable recovery, the patient was discharged, and a follow-up appointment with general surgery was scheduled to proceed with the pending right adrenalectomy, alongside with repeating the excess cortisol production tests.

Discussion: This case highlights the challenges in diagnosing and managing CS during pregnancy. Furthermore, our report highlights the significance of a multidisciplinary approach to optimize patient care and ensure favourable outcomes in both the patient and fetal well-being.