Introduction Basal ganglia calcification (BGC) is observed in 70% of the patients with hypoparathyroidism ( Goswami et al. 2012 , Gafni & Collins 2019 ). These calcifications are most common at the caudate nucleus of the basal ganglia
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Parmita Kar and Ravinder Goswami
D Alvarez-Hernandez, I Santamaria, M Rodriguez-Garcia, P Iglesias, R Delgado-Lillo, and JB Cannata-Andia
A novel missense activating mutation in the extracellular calcium-sensing receptor (CaSR) is reported in this work. It was identified in three related subjects with the phenotypic features of autosomal dominant hypocalcemia (ADH). The proband, a 27-year-old woman, diagnosed as having hypoparathyroidism at 7 years of age and a history of seizures, showed the highest penetrance of the mutation. The remaining two affected members presented asymptomatic chronic hypocalcemia despite severe hypoparathyroidism associated with high levels of serum phosphate and calcium urinary excretion. The missense mutation (Glu(604)Lys) affected an amino acid residue in the C terminus of the cysteine-rich domain of the extracellular amino-terminal domain, which seems to be required for the coupling of ligand binding to the activation of intracellular signaling pathways. This genetic change cosegregated with hypocalcemia in all the individuals where the mutation was found. As parathyroid hormone (PTH) secretion is the regulatory target of the CaSR, polymorphism analysis of the PTH gene was carried out. PTH polymorphisms were analyzed in the kindred studied. Affected members for the Glu(604)Lys CaSR mutation which also carried the uncommon PTH alleles showed higher penetrance of the mutation, with more severe autosomal dominant hypocalcemia. These results suggested that the PTH gene could act as a modifier locus of ADH, affecting the penetrance of the activating CaSR mutation described.
Abdolreza Esmaeilzadeh, Reza Elahi, Amir Siahmansouri, Armin Jahani Maleki, and Amirhosein Moradi
diabetic ketoacidosis Mondal et al. 2021 1 (case report) New-onset Chee et al. 2020 Parathyroid gland Hypoparathyroidism N/A Reduced PTH Increased phosphorus Normal Ca N/A 1 (case report) New-onset Elkattawy et al
Fadil M Hannan, Valerie N Babinsky, and Rajesh V Thakker
& Thakker 2013 , Nesbit et al . 2013 a ). Although ADH is associated with increased circulating phosphate concentrations and inappropriately low or normal PTH concentrations, this is considered to represent a distinct disease entity from hypoparathyroidism
Caroline M Gorvin
allosteric modulators . Endocrinology 154 1105 – 1116 . ( https://doi.org/10.1210/en.2012-1887 ) 23372019 10.1210/en.2012-1887 Li D Opas EE Tuluc F Metzger DL Hou C Hakonarson H Levine MA 2014 Autosomal dominant hypoparathyroidism
Caroline M Gorvin
to be distinguished from individuals with other forms of hypoparathyroidism as treatment with vitamin D or its metabolites to correct hypocalcaemia may exacerbate hypercalciuria and nephrocalcinosis in ADH1 patients ( Hannan & Thakker 2013 , Roszko
David E C Cole, Francisco H J Yun, Betty Y L Wong, Andrew Y Shuen, Ronald A Booth, Alfredo Scillitani, Svetlana Pidasheva, Xiang Zhou, Lucie Canaff, and Geoffrey N Hendy
parathyroidectomy. Assignment of a hypocalcemic individual as having an activating CASR mutation distinct from hypoparathyroidism of other etiologies alerts the physician to the special treatment requirements of such patients related to their over-activated renal
Hasnat Ali Abid, Asuka Inoue, and Caroline M Gorvin
Dreijerink KM Lambright DG Lim ET Daly MJ Gabriel S Juppner H 2013 Germline mutations affecting Galpha11 in hypoparathyroidism . New England Journal of Medicine 368 2532 – 2534 . ( https://doi.org/10.1056/NEJMc1300278 ) Maziarz M Park
Marie France Bouchard, Hiroaki Taniguchi, and Robert S Viger
observed in CD34 positive cells in patients with aplastic anemia ( Fujimaki et al . 2001 ). GATA3 mutations have been associated with HDR syndrome, a genetic disease characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia ( Van
Murat Bastepe, Serap Turan, and Qing He
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization . Journal of Clinical Endocrinology and Metabolism 99 E1774 – E1783 . ( doi:10.1210/jc.2014-1029 ) Lindsay R Cosman F Zhou
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