Evidence map›Paper›PMID 38540345›Full record

Observational studyGenes2024

Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.

Giorgia Pepe, Roberto Coco, Domenico Corica, Gabriella Di Rosa, Filip Bossowski, Magdalena Skorupska, Tommaso Aversa, Stefano Stagi, Malgorzata Wasniewska

Open access · goldAbstract readMulticenter StudyObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
2.2field-weighted citation impact, top 13% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. MECP2 Rare Variants in Boys With Central Precocious Puberty.The Journal of clinical endocrinology and metabolism · 2026
    Article
  5. Review
  6. Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024
    Review
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 at 2 institutions in 1 country.

Giorgia PepePediatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Roberto CocoPediatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Domenico CoricaPediatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-3628-1612
Gabriella Di RosaChild Neuropsychiatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, 98128 Messina, Italy.
Filip BossowskiPediatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-0229-4597
Magdalena SkorupskaPediatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Tommaso AversaPediatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-1754-6822
Stefano StagiDepartment of Health Sciences, University of Florence, 50139 Florence, Italy.ORCID 0000-0002-2259-4685
Malgorzata WasniewskaPediatric Unit, Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-8299-2677
University of Messina · ITMeyer Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Systematic data on endocrinopathies in Rett syndrome (RTT) patients remain limited and inconclusive. The aim of this retrospective observational two-center study was to assess the prevalence of endocrinopathies in a pediatric population of RTT patients. A total of 51 Caucasian patients (47 girls, 4 boys) with a genetically confirmed diagnosis of RTT were enrolled (mean age 9.65 ± 5.9 years). The patients were referred from the Rett Center of two Italian Hospitals for endocrinological evaluation. All the study population underwent clinical and auxological assessments and hormonal workups.

Indexed as

Endocrine System DiseasesRett SyndromeAdolescentChildChild, PreschoolFemaleHumansMaleMutationPrevalenceProtein Serine-Threonine KinasesRetrospective StudiesProtein Serine-Threonine KinasesCDKL5 deletionendocrinopathyepilepsyMeCP2 deletionRett syndrome

Identifiers

PMID38540345
PMCPMC10970698
OpenAlexW4392156584

What Socratic 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 Socratic graph.