Endocrine Abstracts

Background: Carney complex is rare multiple endocrine neoplasia syndrome affecting adrenal, pituitary and thyroid glands. It’s associated with other non-endocrine tumours such as cardiac, skin, mucosal or breast myxomas, testicular tumours, melanotic shwanomas and abnormal pigmentation (spotty skin pigmentation (freckles).

Case: We present the case of a 54 year old lady, who was referred for echocardiography in December 2014 following an episode of paroxysmal atrial fibrillation. Echocardiography revealed a large mobile left atrial mass (Myxoma). She underwent urgent surgical excision of the Atrial myxoma on the same day. Cardiothoracic surgery was complicated by postoperative fast Atrial Fibrillation that was successfully chemically cardioverted with intravenous Amiodarone She was discharged 7 days later. She presented to hospital 2 months later with cardiac sounding chest pain and breathlessness.

Findings: Chest clear, ECG sinus rhythm, troponin negative. Reviewed by the Cardiologist who arranged outpatient follow up. She was noted to have pigmented freckles, coarse facial features and large hands. Medications included Cabergoline 250 mcg weekly, hydrocortisone 15 mg am 5 mg midday and 5 mg evenings, levothyroxine 125 mcg od. Background Acromegaly treated by transphenoidal surgery in 1979, Goitre requiring partial thyroidectomy and hypothyroidism.

Discussion: It’s an autosomal dominantly inherited condition due to an inactivating mutation of PRKARI alpha on the long arm of chromosome 17q2. This mutation is found in about 50% of the families The commonest endocrine manifestation is primary pigmented nodular adrenocortical disease causing Cushing’s syndrome. Others include Large cell calcifying Sertoli cell tumours, growth hormone and prolactin secreting pituitary adenomas, thyroid adenomas and ovarian cysts.

Conclusion: Arriving at a unifying diagnosis can be difficult and is often delayed as demonstrated in this case report. Patients with Carney’s Complex should have an annual symptoms review as well as blood tests for IGF1, prolactin and thyroid function, Echocardiography, Pituitary MRI, Thyroid and testicular/ovarian ultrasound.