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KMID : 0882420110800060718
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Korean Journal of Medicine
2011 Volume.80 No. 6 p.718 ~ p.722
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A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Hypothyroidism
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Kim Eun-Ji
Park So-Young
Kang Jun-Goo
Kim Chul-Sik
Ihm Sung-Hee
Yoo Hyung-Joon
Lee Seong-Jin
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Abstract
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Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder characterized by mild asymptomatic hypercalcemia, hypocalciuria, a decreased urinary calcium-creatinine ratio, and normal or elevated parathyroid hormone levels. FHH is caused by an inactivating heterozygous mutation of the calcium-sensing receptor (CaSR) gene. A 62-year-old woman was referred to our center because of inadequate glucose control. Her son had hypercalcemia. Biochemical and endocrine studies showed hypercalcemia, hypocalciuria, a decreased urinary calcium-creatinine ratio, normal parathyroid hormone levels, normal PTH-related peptide levels, decreased free T4, increased TSH, and thyroid antibody positivity. Direct sequencing analyses revealed a heterozygous mutation of G21R at exon 2 and a single nucleotide polymorphism of R990G at exon 7 of the CaSR gene. Here, we report a case of FHH associated with a heterozygous mutation and a single nucleotide polymorphism of the CaSR gene, which coexisted with autoimmune thyroiditis and hypothyroidism. To our knowledge, this is the first such case reported.
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KEYWORD
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Hypercalcemia, Calcium-sensing receptor, Autoimmune thyroiditis, Hypothyroidism
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