SAT-361 Familial Hypocalciuric Hypercalcemia Type 3: AP2S1 Mutation

Familial hypocalciuric hypercalcemia: an atypical presentation.

9. Jammah AA, Driedger A, Rachinsky I. Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging. Arq Bras Endocrinol Metab. 2011;55:490--3. 10. Van Wijk JPH, Broekhuizen-de Gast HS, Smits AJJ, Schipper MEI, Zelissen PMJ. Scintigraphic detection of benign ovarian teratoma after total thyroidectomy and radioactive iodine for different...

Familial hypocalciuric hypercalcemia: An atypical presentation

9. Jammah AA, Driedger A, Rachinsky I. Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging. Arq Bras Endocrinol Metab. 2011;55:490--3. 10. Van Wijk JPH, Broekhuizen-de Gast HS, Smits AJJ, Schipper MEI, Zelissen PMJ. Scintigraphic detection of benign ovarian teratoma after total thyroidectomy and radioactive iodine for different...

Familial hypocalciuric hypercalcemia and calcium sensing receptor.

Familial hypocalciuric hypercalcemia (FHH) is a lifelong, benign autosomal dominant disease characterized by hypercalcemia, normal to increased parathyroid hormone level, and a relatively low renal calcium excretion. Inactivation of the calcium-sensing receptor in heterozygous patients results in FHH, while in homozygous patients as well as in compound heterozygous or dominant negative heterozy...

Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor

UNLABELLED 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 ...

[Clinical study of two kindreds of familial hypocalciuric hypercalcemia].