A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Hypothyroidism / 대한내과학회지
Korean Journal of Medicine
;
: 718-722, 2011.
Article
in Korean
| WPRIM
| ID: wpr-201140
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parathyroid Hormone
/
Thyroid Gland
/
Thyroiditis, Autoimmune
/
Exons
/
Polymorphism, Single Nucleotide
/
Parathyroid Hormone-Related Protein
/
Receptors, Calcium-Sensing
/
Glucose
/
Hypercalcemia
/
Hypothyroidism
Limits:
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Medicine
Year:
2011
Type:
Article
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