ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2020
Morbidity in Klinefelter syndrome and the effect of testosterone treatment.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.European journal of endocrinology · 2022Guideline
- Global burden and health inequalities of sex chromosomal DSDs (1990-2021): a GBD 2021 analysis.International urology and nephrology · 2026Article
- Testosterone replacement therapy and spermatogenesis in reproductive age men.Nature reviews. Urology · 2025Review
- Perspectives From Adolescents and Young Adults With Klinefelter Syndrome on Testosterone Supplementation and Fertility.Journal of the Endocrine Society · 2025Article
- Differences of sex development.Nature reviews. Disease primers · 2025Review
- Finding acceptance: How adolescents and young adults with Klinefelter Syndrome navigate identity, disclosure, and support.Journal of genetic counseling · 2025Article
- Concurrent Diagnosis and Management of Primary Mediastinal Germ Cell Tumor and Klinefelter Syndrome.Cureus · 2025Article
- A qualitative exploration of experiences of gender identity and gender questioning among adults with Klinefelter syndrome/XXY.Journal of genetic counseling · 2025Article
- Cardiovascular risk and mortality in men receiving testosterone replacement therapy for Klinefelter syndrome in Denmark: a retrospective cohort study.The Lancet regional health. Europe · 2025Article
- A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.Global medical genetics · 2025Article
- Mild liver dysfunction in Klinefelter syndrome is associated with abdominal obesity and elevated lipids but not testosterone treatment.Journal of endocrinological investigation · 2024Article
- Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.JAMA network open · 2024Article
- Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure.The Journal of clinical endocrinology and metabolism · 2023Article
- Unilateral breast enlargement in males during adolescence (10-19 years): Review of current literature and personal experience.Acta bio-medica : Atenei Parmensis · 2023Review
- Review
- Article
- Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.Frontiers in endocrinology · 2023Review
- Cohort profile: pathways to care among people with disorders of sex development (DSD).BMJ open · 2022Article
- Evaluation of the Efficacy of Transdermal and Injection Testosterone Therapy in Klinefelter Syndrome: A Real-Life Study.Journal of the Endocrine Society · 2021Article
- Sex chromosome aneuploidies in 2020-The state of care and research in the world.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Klinefelter syndrome (KS; 47,XXY) is the most common sex chromosome abnormality in males (150 per 100,000 males). The condition leads to hypergonadotropic hypogonadism and ever since the condition was described approximately 80 years ago, testosterone treatment has been the cornerstone in care for individuals with KS. However, KS is associated with an array of health-related and socioeconomic challenges and it is becoming progressively clear that proper care for boys and men with KS reaches far beyond simply supplementing with testosterone. There are no widely implemented guidelines for KS care, and studies investigating crucial aspects of testosterone treatment in individuals with KS, including both beneficial and potentially adverse effects, have only begun to emerge during the last decades. For this descriptive review, we present an overview of literature describing health-related outcomes of testosterone treatment in KS and outline the clinical applications of testosterone treatment in KS. Collectively, beneficial effects of testosterone treatment on overall health in KS are described with few apparent adverse effects. However, larger randomized studies in adult and pediatric patients are warranted to elucidate key aspects of treatment. We stress the implementation of centralized multidisciplinary clinics and the need for a dedicated international guideline to ensure optimal care of boys and men with KS.
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What OpenQuestion holds
Registered trials
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.