ReviewJournal of endocrinological investigation2017
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism.
Review in Journal of endocrinological investigation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers, 9 of them syntheses that pooled it.
What it found
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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.
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Who cites it
130 citing papers in PubMed, 9 syntheses or guidelines pooled it.
- The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Management of gynecomastia in adolescence and adults: the clinical practice guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS).Journal of endocrinological investigation · 2026Guideline
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- "Management of andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP)-Part-1".Journal of endocrinological investigation · 2025Guideline
- Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review.European journal of endocrinology · 2022Pooled it
- Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review.Clinical endocrinology · 2022Pooled it
- 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
- Testosterone treatment in male patients with Klinefelter syndrome: a systematic review and meta-analysis.Journal of endocrinological investigation · 2020Pooled it
- Pooled it
- WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome.Andrology · 2026Article
- A rare case report: atypical presentation of Klinefelter syndrome in a 24-year-old male at suburban tertiary care hospital in Nepal.Annals of medicine and surgery (2012) · 2026Article
- Predictive factors shaping fertility potential and reproductive outcomes in men with Klinefelter syndrome.Asian journal of andrology · 2026Article
- Anogenital distance in patients with Klinefelter syndrome.Clinical and experimental reproductive medicine · 2026Article
- Klinefelter syndrome in a Holstein-Friesian bull: a case report.Irish veterinary journal · 2026Article
- Phenotypic variability in Klinefelter syndrome: clinical findings including reported fatherhood.Endocrine · 2026Article
- Body Composition by DXA in Patients with Klinefelter and Kallmann Syndrome: The Kama Study.The Journal of clinical endocrinology and metabolism · 2026Observational
- Sex hormones and gender differences in immune responses and anticancer immunity: a comprehensive review.Biologia futura · 2026Review
- Article
- Impact of age at first visit on glycolipid metabolism, bone metabolism, and fertility potential in patients with Klinefelter syndrome.Andrology · 2026Article
70 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients' interindividual differences in terms of health status will result in a better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships.
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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.