Evidence map›Paper›PMID 33101191›Full record

ArticleFrontiers in endocrinology2020

The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.

Alessandro Cattoni, Alice Spano, Anna Tulone, Annalisa Boneschi, Nicoletta Masera, Silvia Maitz, Anna Maria Di Blasio, Luca Persani, Fabiana Guizzardi, Raffaella Rossetti

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.5field-weighted citation impact, top 28% 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

8 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023
    Review
  6. Article
  7. Article
  8. HomozygousReproductive medicine and biology
    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

10 authors at 3 institutions in 1 country.

Alessandro CattoniDepartment of Pediatrics, Azienda Ospedaliera San Gerardo, Università degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.
Alice SpanoDepartment of Pediatrics, Azienda Ospedaliera San Gerardo, Università degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.
Anna TuloneDepartment of Pediatrics, Azienda Ospedaliera San Gerardo, Università degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.
Annalisa BoneschiDepartment of Gynecology and Obstetrics, Azienda Ospedaliera San Gerardo, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.
Nicoletta MaseraDepartment of Pediatrics, Azienda Ospedaliera San Gerardo, Università degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.
Silvia MaitzDepartment of Pediatrics, Azienda Ospedaliera San Gerardo, Università degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.
Anna Maria Di BlasioMolecular Biology Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Auxologico Italiano, Cusano Milanino, Italy.
Luca PersaniDepartment of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Milan, Italy.
Fabiana GuizzardiMolecular Biology Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Auxologico Italiano, Cusano Milanino, Italy.
Raffaella RossettiDepartment of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Milan, Italy.
Azienda Ospedaliera San Gerardo · ITIRCCS Istituto Auxologico Italiano · ITUniversity of Milano-Bicocca · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Non-syndromic primary ovarian insufficiency due to ovarian dysgenesis in 46,XX patients is an uncommon finding in the general population, even though several monogenic variants have been reported as causative factors. Here, we describe a 15-year-old patient diagnosed with gonadal dysgenesis possibly due to the interaction of three potentially pathogenic variants of genes involved in ovarian maturation, namely

Indexed as

AdolescentBasic Helix-Loop-Helix ProteinsFemaleGenetic Diseases, X-LinkedGenetic VariationGonadal DysgenesisHomeodomain ProteinsHumansPrimary Ovarian InsufficiencySteroidogenic Factor 1Transcription FactorsBasic Helix-Loop-Helix ProteinsFIGLA protein, humanHomeodomain ProteinsNOBOX protein, humanNR5A1 protein, humanSteroidogenic Factor 1Transcription Factorsantimullerian hormone (AMH)fertilityFIGLA genegene variantsgonadal dysgenesis (GD)NOBOX geneNR5A1 geneprimary ovarian insufficiency (POI)

Identifiers

PMID33101191
PMCPMC7545356
OpenAlexW3088603512

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.