Open AccessA variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy
Author(s) -
Diana Festas Silva,
Adriana Lages,
João Carlos Caetano,
Rita Cardoso,
Isabel Dinis,
Leonor Gomes,
Isabel Paiva,
Alice Mirante
Publication year - 2021
Publication title -
endocrinology, diabetes and metabolism case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.307
H-Index - 7
ISSN - 2052-0573
DOI - 10.1530/edm-21-0005
Subject(s) - hypoparathyroidism , endocrinology , hyperphosphatemia , medicine , calcium sensing receptor , parathyroid hormone , teriparatide , calcitriol receptor , calcitriol , vitamin d and neurology , calcium
Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. Current treatments for ADH type 1 include supplementation with calcium and active vitamin D. We report a case of hypoparathyroidism in an adolescent affected by syncope without prodrome. The genetic testing revealed a variant in the CASR gene. Due to standard therapy ineffectiveness, the patient was treated with recombinant human parathyroid hormone (1-34), magnesium aspartate and calcitriol. He remained asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to achieve clinical stability.