Endocrine Abstracts

Carney Complex (CC) is a rare autosomal dominant genetic disorder, caused by a PRKAR1A gene mutation. Multiple endocrine neoplasia syndromes, and primary pigmented nodular adrenocortical disease (PPNAD) are common features. PPNAD is characterised by normal to enlarged adrenal glands, containing multiple pigmented nodules with surrounding adrenal atrophy, and can cause ACTH-independent hypercortisolism. Recommended PPNAD management is bilateral adrenalectomy, which carries a high risk of morbidity and mortality. Mifepristone is a glucocorticoid receptor antagonist, which blocks the effects of endogenous hypercortisolism. In 2013, a 38-year-old female, already diagnosed with CC, presented with hirsutism, mood changes, central fat distribution, and disrupted sleep, on a background of other manifestations of CC - dermal schwannomas and breast adenomyoepitheliomas. Tests to evaluate ACTH-independent Cushing’s syndrome yielded the following results and, in summary, revealed an elevated 24-hour urinary free cortisol (UFC), positive low and high dose dexamethasone suppression tests, and loss of salivary cortisol diurnal variation. She was diagnosed with PPNAD and trialled on 200 mg mifepristone, with a slight dose increase a few years later. A normal sleep pattern was restored, positively impacting energy, mood, and weight. Important to note is an incidental finding of endometrial adenosarcoma 3 years after initiation of mifepristone, suspected to have caused endometrial hyperplasia. She underwent a hysterectomy and salpingo-oophorectomy. A decade later, her condition remains well-controlled, and she lives an active and fulfilling life. This case report explores a decade of novel use of mifepristone to restore circadian rhythm and reduce effects of hypercortisolism in PPNAD in CC, advocating for its use and for regular screening with transvaginal ultrasounds.