Endocrine Abstracts

We report a case of familial clustering of familial hypocalciuric hypercalcemia (FHH) associated with and papillary thyroid carcinoma (PTC). The first presentation in our clinic of one of the patients, female patient, was for severe hypercalcemia. The diagnostic workout for hypercalcemia revealed primary hyperparathyroidism (PHPT) due to a left inferior parathyroid adenoma and undergo surgery. The pathologic report described closely packed chief cells arranged in uniform sheets and cords confirmatory for parathyroid adenoma of left inferior gland. The persistence of the mild hypercalcemia following parathyroid surgery with low urinary Calcium excretion meets the criteria for FHH. We diagnosed her brother with FHH due to asymptomatic mildly elevated serum calcium levels with inappropriate parathormone levels and low urinary calcium excretion. The thyroid ultrasound showed in both patients, solitary thyroid nodules, diagnosed as papillary carcinoma by fine needle aspiration biopsy. Total thyroidectomy with central and lateral compartment lymphadenectomy was carried out. The pathologic report confirms multifocal classical variant of papillary carcinoma, without oxyphilia, with lymphatic and capsular invasion and lymph node metastases in both patients. Both patients received iodine ablation. The association of nonmedullary thyroid cancer, parathyroid adenoma and FHH is a rare occurrence. Further, familial papillary carcinoma is described as part of a few familial tumour syndromes. The familial PTC cases could have more aggressive clinical behaviour than the sporadic ones, as indicated in some series. Even our subjects don’t meet the criteria for familial cancer, the unusual occurrence of nonmedullary thyroid carcinoma and FHH, with an affected member of parathyroid adenoma is the first described report. Close surveillance to monitor the thyroid cancer recurrence, the occurrence of new parathyroid adenoma, screening for solid tumours described in familial tumour syndromes associated with familial PTC and the genetic analysis is the future case management.