Endocrine Abstracts

The classic clinic manifestation of primary hyperparathyroidism (PHPT) is osteitis fibrosa cystica, a severe skeletal disease characterized by brown tumors, bone cysts and deformities, due to extremely elevated bone resorption elicited by continuously high parathyroid hormone (PTH) levels. In cardiovascular system there may be shortened QT interval, deposition of calcium in heart valves, coronary arteries, and myocardial fibers. Here, we report a case with PHPT, who have anorexia nervosa, skeletal anomaly, atrial septal defect (ASD) and interatrial septal aneurysm.

Case report: An 18-year-old woman, who has anorexia nervosa has applied for constipation. She had bradycardia, low weight (BMI: 15 kg/m²), and prognathism. The radiographic finding of the extremities showed that, bilaterally 2 and 5 metacarpals were short in the hands, and bilaterally 1, 3, 4, 5 metatarsals in the foots were short. Laboratory tests revealed hypercalcemia, hypophosphatemia and hyperparathyroidism. Her 24-h urinary calcium was 504 mg/day. The neck ultrasound revealed a 4.9×6.8×10.4 mm hypoechoic lesion in the outside the thyroid right lobe inferior. Sestamibi scintigraphy results were consistent with parathyroid adenoma. Renal ultrasonography determined milimetric crystaloids in the right kidney. Bone mineral densitometry revealed osteopenia. Her electrocardiography showed a shortened QT interval and bradycardia. Echography revealed an ASD and interatrial septal aneurysm. Her pituitary hormonal levels were consistent with panhypopituitarysm. She had also evaluated for the eye, ear and nose anomaly, but no pathology was found. After the diagnosis and emergency teratment for hypercalcemia she had underwent parathyroidectomy. Postoperative her calcium and parathyroid levels were reduced in normal levels.

Conclusion: Our case revealed hypercalcemia and hyperparathyroidism and also unusual manifestations like anorexia, ASD, interatrial septal aneurysm and skeletal anomaly. In literature to our knowledge, there is only one case with PHPT and ASD associated with mongoloid features. In conclusion, the patients with PHPT may be evaluated for atypical manifestations of cardiac and skeletal system.