A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene.

ABSTRACT: We experienced a case of familial hypoparathyroidism with an autosomal dominant pattern of transmission and performed molecular analysis of the calcium-sensing receptor (CASR) gene. The patient was a female neonate, born by cesarean section at term because of breech presentation. Her mother had been diagnosed with idiopathic hypoparathyroidism at the age of 9 yr and had been receiving vitamin D treatment since then. At birth, the patient's serum calcium concentration was 8.4 mg/dl, but it fell to 4.0 mg/dl on the fifth day after birth. Furthermore, her serum intact PTH level was inappropriately low, while hyperphosphatemia and hypomagnesemia were found. She was diagnosed with familial hypoparathyroidism, and was immediately started on oral administration of 1α(OH)D3 (0.1 µg/kg/day) and con

SUBMITTER: Miyata I 

PROVIDER: S-EPMC4004876 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature