LAUSR

Abstract Background Carney complex (CNC) is a rare disorder associated with endocrine, cardiac, cutaneous and neural tumors. Primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine manifestation in patients with CNC and can be challenging to diagnose and manage. Case A 35 yo female with CNC diagnosed at the age of 3 yrs presented with a 20 lb. weight gain over last 1 year associated with easy bruising, anxiety, dorsocervical and supraclavicular fat pad. She had no other comorbidities and had normal bone density. Her morning cortisol after 8 mg dexamethasone was not suppressed (cortisol 14.9 mcg/dl, dexamethasone 1920 ng/dl); however, urine cortisol values were high normal to only mildly elevated (42.7, 48.4; n-3.5-45 mcg/24hr). Loss of circadian rhythm was noted on comparing midnight and morning cortisol level (8.4, 8.3 mcg/dl respectively), ACTH was suppressed (<5 pg/ml) and DHEAS was low (0.26; n-0.35-4.30 mcg/ml). Her Liddle’s test was not consistent with PPNAD. Adrenal CT was suggestive of possible focal enlargement of medial limb of left adrenal. She was offered bilateral adrenalectomy, but has deferred it at this time. Discussion CNC was first described by Dr. Carney in 1985 as ‘the complex of myxomas, spotting pigmentation and endocrine over-reactivity’. It is a rare disorder with 750 known cases. It has autosomal dominant inheritance with almost 100% penetrance. PPNAD is seen clinically in 25-60% of patients with CNC, however, it has been found in almost every individual with CNC who underwent autopsy, suggesting significant variability in presentation. Symptoms may evolve over a span of many years, making it difficult to determine the appropriate timing of treatment. Diagnosing PPNAD can be challenging as cortisol production can be cyclical, periodic or subclinical. The paradoxical rise in glucocorticoids in response to dexamethasone (Liddle’s test) is reported in 69% of patients but is not pathognomonic. Radiological diagnosis is also challenging as most nodules are less than 4 mm in size, so the adrenals may appear normal on CT scan. Recommended treatment for PPNAD is bilateral adrenalectomy, but this introduces a lifelong burden of steroid replacement and risk of adrenal crisis. Recently, Xu et al performed unilateral adrenalectomy in patients with PPNAD with remission of disease in 12/13 patients with mean follow-up of 3.9 yrs. Longer follow up is needed to determine if unilateral adrenalectomy is an acceptable treatment in PPNAD. Conclusion Diagnosing PPNAD and deciding appropriate time of surgery can be challenging. Unilateral adrenalectomy as a treatment modality needs to be further studied. References Correa et al. Carney Complex: An Update. Eur J Endocrinol 2015. Xu et al. The Role of Unilateral Adrenalectomy in Corticotropin-Independent Bilateral Adrenocortical Hyperplasias. World J Surg 2013.