A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Hypothyroidism.
- Author:
Eun Ji KIM
1
;
So Young PARK
;
Jun Goo KANG
;
Chul Sik KIM
;
Sung Hee IHM
;
Hyung Joon YOO
;
Seong Jin LEE
Author Information
1. Department of Internal Medicine, Hallym University College of Medicine, Chuncheon, Korea. leesj@hallym.ac.kr
- Publication Type:Case Report
- Keywords:
Hypercalcemia;
Calcium-sensing receptor;
Autoimmune thyroiditis;
Hypothyroidism
- MeSH:
Exons;
Female;
Glucose;
Humans;
Hypercalcemia;
Hypothyroidism;
Middle Aged;
Parathyroid Hormone;
Parathyroid Hormone-Related Protein;
Polymorphism, Single Nucleotide;
Receptors, Calcium-Sensing;
Thyroid Gland;
Thyroiditis, Autoimmune
- From:Korean Journal of Medicine
2011;80(6):718-722
- CountryRepublic of Korea
- Language:Korean
-
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.
