A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation.
Akira SumidaKatsumi IizukaTakehiro KatoYanyan LiuSodai KubotaSaki Kubota-OkamotoTeruaki SakuraiToshinori ImaizumiYoshihiro TakahashiMasami MizunoKen TakaoTakuo HirotaTetsuya SuwaYukio HorikawaMayumi YamamotoYusuke SeinoAtsushi SuzukiDaisuke YabePublished in: BMC endocrine disorders (2022)
We experienced a 16-year-old female with FHH, in whom genetic testing identified the heterozygous calcium-sensing receptor mutation (NM_00388:4:c.164C > T:p.Pro55Leu) as pathogenic, permitting a definitive diagnosis of FHH type 1. The genetic testing for calcium sensing receptor is beneficial to distinguish asymptomatic primary hyperparathyroidism from FHH.