Evidence map›Paper›PMID 40893023›Full record

ArticleArchives of endocrinology and metabolism2025

Genetic or familiar forms of primary hyperparathyroidism: description of a case series with familial isolated hyperparathyroidism and review of the literature.

Miguel Madeira, Maria Caroline Alves Coelho, Leandro Kasuki, Filipe Barbosa Linhares, Isabel Sampaio Tostes, Rafael Mazzutti Dutra Santana, Raquel Beatriz Gonçalves Muniz, Maria Lucia Fleiuss de Farias, Fernanda Vaisman

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Archives of endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Miguel MadeiraHospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro Departamento de Clínica Médica Rio de Janeiro RJ Brasil Programa de Pós-graduação em Endocrinologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Maria Caroline Alves CoelhoUniversidade do Estado do Rio de Janeiro Rio de Janeiro RJ Brasil Programa de Pós-graduação em Fisiopatologia Clínica e Experimental (FISCLINEX), Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Leandro KasukiHospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro Departamento de Clínica Médica Rio de Janeiro RJ Brasil Programa de Pós-graduação em Endocrinologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Filipe Barbosa LinharesHospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro Departamento de Clínica Médica Rio de Janeiro RJ Brasil Programa de Pós-graduação em Endocrinologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Isabel Sampaio TostesHospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro Departamento de Clínica Médica Rio de Janeiro RJ Brasil Programa de Pós-graduação em Endocrinologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Rafael Mazzutti Dutra SantanaHospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro Departamento de Clínica Médica Rio de Janeiro RJ Brasil Programa de Pós-graduação em Endocrinologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Raquel Beatriz Gonçalves MunizHospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro Departamento de Clínica Médica Rio de Janeiro RJ Brasil Programa de Pós-graduação em Endocrinologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Maria Lucia Fleiuss de FariasHospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro Departamento de Clínica Médica Rio de Janeiro RJ Brasil Programa de Pós-graduação em Endocrinologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Fernanda VaismanHospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro Departamento de Clínica Médica Rio de Janeiro RJ Brasil Programa de Pós-graduação em Endocrinologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primaryhyperparathyroidism (PHPT) is a disorder of mineral metabolism caused by inappropriate or excessive secretion of parathyroid hormone. It occurs sporadically in approximately 95% of cases but may also be associated with complex syndromes and/or a familial (i.e., hereditary) history. We report the clinical, laboratory, and genetic profiles of a case series with familial isolated hyperparathyroidism. Diagnosis was established in patients aged 22-41 years (median = 32), and recurrence was identified in four patients (three with adenoma and one with hyperplasia and parathyroid carcinoma). Six family members presented with a heterozygous mutation in the CDC73 gene, and one patient had a copy number variation of undetermined clinical significance in the same gene. In addition, we review the particularities of each condition associated with PHPT, indications for genetic evaluation, and recommendations for follow-up and treatment.

Indexed as

CDC73 proteinparathyroid cancerparathyroid neoplasmsPrimary hyperparathyroidism

Identifiers

PMID40893023
PMCPMC12483168

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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.