Cushing’s syndrome (CS) during pregnancy is a rare condition associated with high maternal and fetal morbidity. Normal pregnancy is a physiological state of hypercortisolemia associated with many typical clinical features that overlap with CS making the diagnosis of CS in pregnancy challenging. The rare presentation of CS during pregnancy has impaired the formulation of established guidelines for management, and surveillance. We report a case of adrenocorticotrophic (ACTH) independent CS diagnosed in pregnancy.
A 27 year old previously well primigravid woman, was referred to the Obstetric-Endocrinology Outpatient clinic at 24 weeks gestation with gestational diabetes mellitus (GDM). She was noted to have a preceding 12-week history of rapid weight gain and marked fatigue. On examination, she was plethoric with a moon-shaped face, prominent supraclavicular and dorsocervical fat pads, diffuse violaceous striae, hirsutism, and acne. She was hypertensive with a blood pressure of 165/90 mmHg.
On the basis of clinical findings suggestive of Cushing’s syndrome, investigations to demonstrate hypercortisolism were performed. Elevated urinary free cortisol (UFC) measurements and loss of normal diurnal rhythm were confirmative, and the repeated finding of an undetectable ACTH indicated ACTH-independent CS. Magnetic resonance imaging (MRI) of the abdomen revealed a left adrenal adenoma measuring 2.9 x 2.6 x 2.4cm.
On confirmation of the diagnosis, medical management with 250mg BD of metyrapone was commenced after multi-disciplinary team consultation deemed surgical intervention to be too high risk. The dose of metyrapone was titrated to the UFC aiming for 200-300 nmol/24h, measured twice weekly. Reassuring serial growth scans reveal a large for gestational age fetus. She is currently 30 weeks gestation and remains in a stable condition.
This case exemplifies the major challenges in diagnosis and management of CS and it’s consequences in pregnancy. We will review case progress and the literature around diagnosis and management of CS in pregnancy.