Evidence map›Paper›PMID 42223909›Full record

ArticleJournal of endocrinological investigation2026

Clinical and genetic insights into Autosomal Dominant Hypocalcemia type 1: a single-center case series including genotype-phenotype correlations, pregnancy outcomes, and novel CASR variants.

Simone Della Valentina, Laura Pierotti, Chiara Sardella, Anna Dal Lago, Elena Pardi, Angela Michelucci, Maria Adelaide Caligo, Paolo Piaggi, Piercarlo Rossi, Filomena Cetani

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Article in Journal of endocrinological investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Simone Della ValentinaDepartment of Clinical and Translational Sciences, University of Pisa, Pisa, Italy.
Laura PierottiDepartment of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa, Pisa, Italy.
Chiara SardellaUnit of Endocrinology, University Hospital of Pisa, Pisa, Italy.
Anna Dal LagoDepartment of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa, Pisa, Italy.
Elena PardiDepartment of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa, Pisa, Italy.
Angela MichelucciLaboratory of Molecular Genetics, University Hospital of Pisa, Pisa, Italy.
Maria Adelaide CaligoLaboratory of Molecular Genetics, University Hospital of Pisa, Pisa, Italy.
Paolo PiaggiDepartment of Information Engineering, University of Pisa, Pisa, Italy.
Piercarlo RossiRadiology, Department of Translational Research on New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Filomena CetaniDepartment of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa, Pisa, Italy. filomena.cetani@unipi.it.ORCID http://orcid.org/0000-0003-2558-9547

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe main purpose of this study was to provide a comprehensive characterization of adult patients with Autosomal Dominant Hypocalcemia type 1 (ADH1), focusing on clinical and biochemical features, with particular attention to renal involvement, skeletal features and ectopic calcifications. The secondary aims were to explore potential genotype-phenotype correlations, describe two previously unreported CASR variants, and report pregnancy outcomes in affected women.

methodsWe conducted a retrospective, single-centre study of 11 adults with genetically confirmed ADH1 followed at a tertiary Endocrinology Unit between March 2012 and May 2025. Clinical presentation, biochemical data, renal and cerebral involvement, skeletal status and treatment history were collected at first evaluation and during follow-up. CASR variants were identified by next-generation sequencing with Sanger confirmation, and genotype-phenotype relationships were explored.

resultsAt diagnosis, 64% of patients reported hypocalcemia-related symptoms, while 36% were asymptomatic. Nephrolithiasis, nephrocalcinosis and basal ganglia calcifications were frequent, in patients exposed to long-term calcium and active vitamin D therapy, although causal relationships cannot be established. Axial BMD was normal or increased, whereas radial BMD was often reduced and bone turnover markers were low-normal; no fragility fractures were documented. We identified two novels CASR missense variants and observed marked intra- and interfamilial variability. Four pregnancies in three women with ADH1 resulted in favourable maternal and neonatal outcomes.

conclusionsIn our ADH1 patients we found a wide clinical variability, from asymptomatic hypocalcemia to severe early-onset disease, with a high burden of renal complications and ectopic calcifications. Genotype alone does not fully predict clinical severity, even for the same CASR variant. Pregnancies can have good outcomes under close biochemical monitoring and tailored therapy but should be managed as high-risk.

Indexed as

HypercalciuriaHypocalcemiaHypoparathyroidismReceptors, Calcium-SensingAdultFemaleGenetic Association StudiesHumansPregnancyPregnancy ComplicationsPregnancy OutcomePrognosisRetrospective StudiesYoung AdultCASR protein, humanReceptors, Calcium-SensingADH1CASR geneDisorders of calcium/phosphate metabolismHypoparathyroidism

Identifiers

PMID42223909

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.