Evidence map›Paper›PMID 38311659›Full record

ReviewHormones (Athens, Greece)2024

HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF.

P Xekouki, A Konstantinidou, C Tatsi, A Sertedaki, N Settas, D Loutradis, G P Chrousos, C Kanaka-Gantenbein, C Dacou-Voutetakis, A Voutetakis

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In one paragraph

Review in Hormones (Athens, Greece), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.1field-weighted citation impact, top 25% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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 4 institutions in 1 country.

P XekoukiEndocrine and Diabetes Clinic, University General Hospital of Heraklion, Medical School, University of Crete, 71500, Heraklion, Crete, Greece. pxekouki@uoc.gr.ORCID http://orcid.org/0000-0001-5205-747X
A Konstantinidou1st Department of Pathology, Unit of Perinatal Pathology, School of Medicine, National Kapodistrian University of Athens, Athens, Greece.
C TatsiDivision of Endocrinology, Diabetes and Metabolism, "Aghia Sophia" Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
A SertedakiDivision of Endocrinology, Diabetes and Metabolism, "Aghia Sophia" Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
N SettasDivision of Endocrinology, Diabetes and Metabolism, "Aghia Sophia" Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
D Loutradis1st Department of Obstetrics and Gynecology, Alexandra Hospital, Athens University Medical School, Lourou 4-2, 115 28, Athens, Greece.
G P ChrousosDivision of Endocrinology, Diabetes and Metabolism, "Aghia Sophia" Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
C Kanaka-GantenbeinDivision of Endocrinology, Diabetes and Metabolism, "Aghia Sophia" Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
C Dacou-VoutetakisDivision of Endocrinology, Diabetes and Metabolism, "Aghia Sophia" Children's Hospital ENDO-ERN Center for Rare Paediatric Endocrine Diseases, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
A VoutetakisDepartment of Pediatrics, University General Hospital of Alexandroupolis, Democritus University of Thrace, Alexandroupolis, Greece.
National and Kapodistrian University of Athens · GRAlexandra Hospital · GRDemocritus University of Thrace · GRUniversity of Crete · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Premature ovarian failure (POF) defines the occurrence of ovarian failure prior to the age of 40. It occurs in one out of 100 women but is very rare before age 20 (1:10,000). Maturity-onset diabetes of the young (MODY), caused by mutations in the HNF1A gene, is also a rare disorder; all types of MODY account for 1-2% of adult diabetic cases. These two rare nosologic entities coexisted in an adolescent girl evaluated for delayed puberty. Although this combination could represent a chance association, an interrelation might exist. We examined HNF1A expression in human fetal and adult ovaries by immunohistochemistry using a polyclonal HNF1A antibody. HNF1A protein was expressed in both the fetal and adult human ovaries. Based on these findings, we hypothesize that HNF1A participates in ovarian organogenesis and/or function and that mutations in the HNF1A gene might represent another molecular defect causing POF, possibly in combination with other genetic factors. The study underlines the importance of rare clinical paradigms in leading the way to elucidation of the pathogenetic mechanisms of rare diseases.

Indexed as

Diabetes Mellitus, Type 2Hepatocyte Nuclear Factor 1-alphaMutationPrimary Ovarian InsufficiencyAdolescentFemaleHumansOvaryHepatocyte Nuclear Factor 1-alphaHNF1A protein, humanHNF1A mutationsMODY diabetesOvaryPremature menopausePremature ovarian failure

Identifiers

PMID38311659
PMCPMC11219395
OpenAlexW4391708499

What OpenQuestion holds

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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.