Endocrinol Metab > Volume 21(6); 2006 > Article
Journal of Korean Endocrine Society 2006;21(6):583-588.
DOI: https://doi.org/10.3803/jkes.2006.21.6.583    Published online December 1, 2006.
A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Low Bone Mass.
Sung Wan Chun, Se Hwa Kim, Jong Yul Jung, Won Na Suh, Ji Ae Moon, Jong In Yook, Yoon Sok Chung, Yumie Rhee, Eun Jig Lee, Sung Kil Lim
1Department of Internal Medicine Yonsei University College of Medicine, Korea.
2Department of Oral Pathology Yonsei University College of Dentistry, Korea.
3Department of Endocrinology and Metabolism, Ajou University School of Medicine, Korea.
Familial hypocalciuric hypercalcemia is caused by heterozygous loss-of-function mutation of the calcium sensing receptor gene, and this is characterized by mild, persistently elevated levels of serum calcium without symptoms or complications. We present a case of clinically diagnosed familial hypocalciuric hypercalcemia with unexpected low bone mass. A 19-year-old man presented with incidentally discovered hypercalcemia. He showed normal growth and sexual maturation. Biochemical studies showed hypercalcemia, increased parathyroid hormone, hypocalciuria, a decreased urinary calcium-creatinine ratio and decreased serum 25-hydroxy-vitamin D. The other hormonal studies were normal. Dual energy x-ray absorptiometry showed low bone mineral density, and the Sestamibi scan showed no abnormality in the parathyroid glands. Iliac bone biopsy showed a general decrease in bone density and increased porosity of the cortical bone. Normal mineralization was also shown, but in part, osteoid deposition was also found. Direct sequencing of the patient's calcium sensing receptor gene showed a point mutation at exon7, Q926R.
Key Words: Calcium sensing receptor, Hypercalcemia, Hypocalciuria, Vitamin D deficiency

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