A 19-year-old Cushingoid lady was referred with significant hirsutism requiring daily facial shaving despite previous laser epilation and regular waxing. She had a background history of PCOS, polycythaemia, hypertension and had been labelled as having a Cushingoid appearance. Extensive investigations elsewhere (UFCs, MR pituitary, and CT adrenals) had failed to diagnose the syndrome. She was taking metformin to regulate menses and lercanidipine and bisprolol. Spironolactone was commenced with good effect. Owing to her obvious Cushingoid features a decision was made to rescreen. Paired samples revealed an elevated random serum cortisol level (742 nmol/l) with a suppressed ACTH (<5 ng/l). Cushings syndrome was confirmed following a LDDST (cortisol 512 nmol/l). Repeated CT adrenal revealed a 5 mm left adrenal nodule, not apparent on previous scans. At that time she underwent breast reduction surgery. Unpredictably the histology result suggested Carney complex (CNC), subsequently confirmed with genetic testing (PRKAR1A gene mutation). Other features of CNC were observed including facial lentigines, blue nevi and a family history was suggestive with paternal great-grandmother and father (who had been diagnosed with hypertension and obesity at age 19) dying suddenly at a young age.
CNC is an autosomal dominantly inherited MEN syndrome characterized by skin pigmentation, endocrine and non-endocrine tumours (including atrial myxomas). Primary pigmented nodular adrenocortical disease (PPNAD) is the commonest endocrine finding and can cause Cushings syndrome. Signs and symptoms of hypercortisolism are subtle; develop slowly over years and may be irregular or cyclic. It is likely her relatives were affected with atrial myxomas contributing to their death. This patients ECHO was normal. She is currently being worked up for surgery and lifelong screening will be required.
This case presents a rare cause of Cushings and highlights the importance of ongoing clinical and biochemical monitoring if high suspicions of the diagnosis.