Evidence map›Paper›PMID 27832510›Full record

ArticleJournal of genetic counseling2017

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults.

Amy Turriff, Ellen Macnamara, Howard P Levy, Barbara Biesecker

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of genetic counseling, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 10% 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

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.

  1. Pooled it
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  19. Observational
  20. Morbidity in Klinefelter syndrome and the effect of testosterone treatment.American journal of medical genetics. Part C, Seminars in medical genetics · 2020
    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

4 authors at 2 institutions in 1 country.

Amy TurriffOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive MSC 1860, Building 10, Room 10N226, Bethesda, MD, 20892, USA. turriffa@mail.nih.gov.ORCID http://orcid.org/0000-0002-8065-7445
Ellen MacnamaraOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Howard P LevyDepartment of Medicine and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Barbara BieseckerSocial and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
National Institutes of Health · USJohns Hopkins University · US

Funding

NHGRI/DIR Genetic Counseling Training ProgramZIEHG200353 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ERBY, LORI · 2010 to 2025
$16.9M
Interventions in Genetic CounselingZIAHG200317 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, BARBARA BOWLES · 2009 to 2018
$7.6M
Intramural NIH HHS ZIE HG200353
6 · The paper itself

Abstract

Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the personal impact of the condition. Genetic counselors benefit from understanding the challenges adolescents and men with XXY face to effectively address their medical and psychosocial needs. The purpose of this study was to understand the impact of living with XXY as an adolescent or an adult. Individuals aged 14 to 75 years with self-reported XXY were recruited from online support networks to complete a web-based survey that included open-ended questions. Open-ended responses were coded and analyzed thematically (n = 169 to 210 for each open-ended question). Over half of respondents to the open-ended questions reported challenges in finding health care providers who are knowledgeable about XXY, with many describing an extensive diagnostic odyssey and relief when receiving a diagnosis. Individuals sought support coping with the challenges they face and acknowledgement of the positive aspects of XXY. Recommendations are made for how genetic counseling can enhance quality of life for individuals living with XXY.

Indexed as

AdolescentAdultAgedGenetic CounselingHumansKlinefelter SyndromeMaleMiddle AgedQualitative ResearchQuality of LifeYoung Adult47,XXYKlinefelter syndromePsychosocial impactSex chromosome aneuploidy

Identifiers

PMID27832510
PMCPMC5425317
OpenAlexW2552937608

What OpenQuestion holds

Textmetadata
LicenceTDM
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.