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Katsumi Taki Department of Internal Medicine, Fujiyoshida Municipal Medical Center, Yamanashi, 403-0005, Japan

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Takahiko Kogai Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

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Junko Sakumoto Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

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Takashi Namatame Clinical Research Center, Dokkyo Medical University, Tochigi, 321-0293, Japan

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Akira Hishinuma Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

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Summary

A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case of asymptomatic hypocalciuric hypercalcemia with a de novo heterozygous mutation in CASR, S591C, which is primarily reported to be responsible for NHPT. A 54-year-old female was referred for investigation of asymptomatic hypercalcemia that was initially found in the 1980s but without a history of bone disease during the perinatal period. She had moderate hypercalcemia (12.4 mg/dl) and relative hypocalciuria (fractional extraction of calcium 1.07%) but normal intact parathyroid hormone and serum 1,25-dihydroxyvitamin D3. Pedigree analysis revealed that she carried a de novo heterozygous mutation of S591C, which she transmitted to an affected child with moderate hypercalcemia but not to other children, who had normal serum calcium levels. A de novo heterozygous CASR mutation that is responsible for NHPT may also present in individuals with asymptomatic hypocalciuric hypercalcemia. Caution is required when predicting course and outcome in a pedigree with CASR mutation, as well as incidental hypercalcemia, because of its variable phenotypes.

Learning points

  • The phenotype and severity of CASR mutations are thought to be dependent on genotypes.

  • We report an asymptomatic case of the de novo heterozygous S591C mutation in CASR, which has previously been reported as a responsible mutation of NHPT with bone diseases.

  • Variable phenotypes of CASR raise a cautionary note about predicting outcome by genotyping in a pedigree with CASR mutation.

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Sachiko-Tsukamoto Kawashima Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Department of Diabetes, Endocrinology and Metabolism Tango Central Hospital, Kyoto, Japan

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Takeshi Usui Clinical Research Institute

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Yohei Ueda Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Maiko-Kakita Kobayashi Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Mika Tsuiki Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Kanako Tanase-Nakao Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Kazutaka Nanba Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Tetsuya Tagami Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Mitsuhide Naruse Clinical Research Institute

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Yoshiki Watanabe Department of Head and Neck Surgery, National Hospital Organization Kyoto Medical Center, 1-1 Mukaihata-cho, Fukakusa, Fushimi-ku, Kyoto 612-8555, Japan

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Ryo Asato Department of Head and Neck Surgery, National Hospital Organization Kyoto Medical Center, 1-1 Mukaihata-cho, Fukakusa, Fushimi-ku, Kyoto 612-8555, Japan

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Sumiko Kato Osaka Saiseikai Ibaraki Hospital, Osaka, Japan

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Akira Shimatsu Clinical Research Institute

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Summary

Parathyroid cystic adenomas are often misdiagnosed as thyroid cysts and routine preoperative diagnostic tools, such as ultrasonography (US) or 99m technetium-sestamibi (99mTc-MIBI) scans, cannot clearly distinguish between these entities. We present a 67-year-old hypercalcemic woman with a cervical cystic lesion who had negative sestamibi scan results. Her laboratory data indicated primary hyperparathyroidism (serum calcium concentration 14.0 mg/dl, phosphate concentration 2.3 mg/dl, and intact parathyroid hormone (PTH) concentration 239 pg/ml). The cervical US and computed tomography scans revealed a large and vertically long cystic mass (12×11×54 mm). A mass was located from the upper end of the left thyroid lobe to the submandibular region and was not clearly distinguishable from the thyroid. For preoperative definitive diagnosis, we carried out a parathyroid fine-needle aspiration (FNA) and PTH assay (PTH–FNA) of liquid aspirated from the cyst. The intact PTH–FNA concentration was 1.28×106 pg/ml, and the patient was diagnosed with primary hyperparathyroidism due to a cystic mass. She underwent a left upper parathyroidectomy and her serum calcium and intact PTH concentration immediately decreased to normal levels. This report describes the usefulness of PTH–FNA for localizing and differentiating an atypical functional parathyroid lesion from nonfunctional tissue in primary hyperparathyroidism.

Learning points

  • Cystic parathyroid lesions, even in the case of elevated PTH levels, can produce negative results in 99mTc-MIBI scans.

  • Preoperative diagnosis of parathyroid cysts detectable on US is possible by parathyroid FNA and PTH assay (PTH–FNA) of liquid aspirated from the cyst, if malignancy is not suspected.

  • PTH–FNA could be helpful in the differential diagnosis of an equivocal cervical tumor.

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