Evidence map›Paper›PMID 31093944›Full record

ArticleEndocrine2019

Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.

Katica Bajuk Studen, Magdalena Avbelj Stefanija, Alexandru Saveanu, Anne Barlier, Thierry Brue, Marija Pfeifer

Abstract read
PubMed Publisher
In one paragraph

Article in Endocrine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 37% of its field
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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Mutations Within the Transcription FactorJournal of clinical research in pediatric endocrinology · 2020
    Article
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

6 authors at 3 institutions in 2 countries.

Katica Bajuk StudenDepartment of Nuclear Medicine, University Medical Centre Ljubljana, Zaloška 7, 1000, Ljubljana, Slovenia. katica.bajuk@kclj.si.ORCID 0000-0002-2296-368X
Magdalena Avbelj StefanijaDepartment of Pediatric Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000, Ljubljana, Slovenia.
Alexandru SaveanuAssistance Publique-Hôpitaux de Marseille (AP-HM), Laboratory of Molecular Biology, Hôpital de la Conception, 13005, Marseille, France.
Anne BarlierAssistance Publique-Hôpitaux de Marseille (AP-HM), Laboratory of Molecular Biology, Hôpital de la Conception, 13005, Marseille, France.
Thierry BrueAix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France.
Marija PfeiferFaculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000, Ljubljana, Slovenia.
Inserm · FRLjubljana University Medical Centre · SIUniversity of Ljubljana · SI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeAmong genetic causes of combined pituitary hormone deficiency (CPHD), mutations of genes coding for transcription factors involved in pituitary development have been implicated. Congenital CPHD is a rare disease; therefore, it is important to expand the knowledge about incidence and regional distribution of specific mutations. The aim of this paper is to report results of genetic analyses of adult Slovenian patients with CPHD.

methodsTwenty-three adult Slovenian patients with early childhood onset CPHD were included in the study. Blood samples were collected through the GENHYPOPIT network to assess possible mutations of six genes (PROP1/HESX1/LHX4/LHX3/POU1F1) involved in the pituitary development following an established algorithm.

resultsIn seven out of 23 patients (30%) a specific mutation in genes encoding pituitary transcription factors was discovered. In five patients, two different mutations of the PROP1 gene (c.150delA and c.301-302delAG) were identified. One patient was heterozygous for a missense variant in the LHX4 gene. Additionally, one patient was positive for a mutation in the gene coding for prokineticin receptor-2.

conclusionsOur study confirms that the two most common mutations of the PROP1 gene globally are also the most frequent mutations in the cohort of adult Slovenian patients with CHPD. Other mutations of pituitary transcription factor genes are extremely rare.

Indexed as

AdultAgedFemaleHomeodomain ProteinsHumansHypopituitarismLIM-Homeodomain ProteinsMaleMiddle AgedMutationReceptors, G-Protein-CoupledReceptors, PeptideRetrospective StudiesSloveniaTranscription FactorsHomeodomain ProteinsLHX4 protein, humanLIM-Homeodomain ProteinsPROKR2 protein, humanProphet of Pit-1 proteinReceptors, G-Protein-CoupledReceptors, PeptideTranscription FactorsCPHDHypopituitarismLHX4PituitaryPROP1

Identifiers

PMID31093944
OpenAlexW2946798861

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.