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CONCLUSIONS Heterozygous inactivating mutations of calcium sensory receptor (CASR) lead to familial hypocalciuric hypercalcemia (FHH), an asymptomatic autosomal dominant PTH-dependent hypercalcemic disease characterized by modest elevations in serum calcium (within 10% of the upper limit of normal), inappropriately serum PTH combined with low renal calcium excretion. Mutations confirmed in CASR, G protein alpha 11 (GNA11) and in the adapter related protein complex 2 sigma 1 subunit (AP2S1) genes are the molecular basis in the three subtype of FHH described to present. The differential diagnosis requires the distinction between FHH and primary hyperparathyroidism (HPT) due to a parathyroid adenoma and is based on the ratio of calcium to creatinine clearance below 0.01 in the FHH patients. Although the parathyroid glands may show moderate hyperplasia, the ultrasonography describes the normal size of parathyroid glands in FHH. We report a case of concomitant occurrence of both FHH and HPT, after the parathyroid adenoma surgical resection, followed biochemically 12 months under treatment with vitamin D analog, alfacalcidol. We report the case of a 49 yr-old, caucasian woman with her first presentation in our clinic for mild asymptomatic hypercalcemia following surgery for parathyroid adenoma. Her personal history was positive for primary hypothyroidism (correctly substituted) due to the chronic thyroiditis and with longlasting asymptomatic hypercalcemia not exceeding the level of total serum calcium of 11 mg /dL since 2006. In 2011 her hypercalcemia was worsened (maximum level 13.49 mg/dL, normal range 8.8-10.4) with high synchronously iPTH levels of 141 pg/mL (normal range 15-65). She was diagnosed with primary hyperparathyroidism due to a left inferior parathyroid adenoma, and the histopathological report confirmed the parathyroid adenoma with clear cell and scarce cytoplasm. Following elective surgical excision of the parathyroid adenoma (2016), her calcium levels remained slightly elevated with inappropriate PTH and low urinary calcium excretion. Her brother was known as papillary thyroid carcinoma and intermittent hypercalcemia with inappropriate PTH value when tested. She had mild vitamin D deficiency (22 ng/mL, normal range>30). The biochemical characteristics in her first evaluation and her follow up under replacement with vitamin D analog are shown in Table 1.

endocrine abstracts

Calcimimetic effect of alfacalcidol in a patient with unusual occurrence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism - Case Report