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The clinical features described in the early characterization of the syndrome include tall stature, small testes, hypogonadism, gynecomastia, and neurodevelopmental deficits. However, the syndrome presents a broad phenotypic spectrum that seems to be evolving, along with environmental and general health changes. Although a proportion of men with KS are asymptomatic, others experience numerous severe comorbidities, ranging from cardiovascular to autoimmune disorders. Once considered a hallmark of the syndrome, the inability to conceive can now be overcome with assisted reproductive technology. The neuropsychological stigmata, once overstated, thereafter inadvertently dismissed, now demand a more balanced and objective approach. Significant advances have been made in our understanding of KS over recent years, including the molecular machinery involved in the chromosomal disjunction that gives rise to the syndrome. Our understanding of the risk-benefit of testosterone replacement therapy has greatly improved; however, many gaps persist. Future work should be prioritized according to the needs of people with KS. There are opportunities for new research addressing the fields of fertility, cardiovascular prevention, neurodevelopment, quality of life, and bone health. Above all, solid registries and extensive prospective longitudinal studies are needed to enroll people with KS to determine their evolving needs as they progress through their lifespan. These studies would be best initiated with international collaboration to ensure the results apply to all those with this condition worldwide.<\/jats:p>","DOI":"10.1210\/endrev\/bnaf005","type":"journal-article","created":{"date-parts":[[2025,2,10]],"date-time":"2025-02-10T07:34:54Z","timestamp":1739172894000},"page":"447-478","source":"Crossref","is-referenced-by-count":28,"title":["New Horizons in Klinefelter Syndrome: Current Evidence, Gaps, and Research Priorities"],"prefix":"10.1210","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2662-1684","authenticated-orcid":false,"given":"Angela K","family":"Lucas-Herald","sequence":"first","affiliation":[{"name":"Developmental Endocrinology Research Group, University of Glasgow , Glasgow G51 4TF ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7885-7467","authenticated-orcid":false,"given":"Lise","family":"Aksglaede","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction, Endo-ERN centre \u201cCopenhagen University Hospital, Rigshospitalet,\u201d \u00a0 2100 Copenhagen ,","place":["Denmark"]},{"name":"International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , 2100 Copenhagen ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Dyhr","family":"Caspersen","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction, Endo-ERN centre \u201cCopenhagen University Hospital, Rigshospitalet,\u201d \u00a0 2100 Copenhagen ,","place":["Denmark"]},{"name":"International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) , 2100 Copenhagen ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0689-5549","authenticated-orcid":false,"given":"S Faisal","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Research Group, University of Glasgow , Glasgow G51 4TF ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5611-4101","authenticated-orcid":false,"given":"Francesco","family":"Carlomagno","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome , 00161 Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-5417","authenticated-orcid":false,"given":"Andrea M","family":"Isidori","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome , 00161 Rome ,","place":["Italy"]},{"name":"Endocrine and Andrological Regional Rare Disease Centre\u2014Endo-ERN centre \u201cAzienda Ospedaliero-Universitaria Policlinico Umberto I,\u201d \u00a0 00161 Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"issue":"9","key":"2025071419563912400_bnaf005-B1","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1016\/j.gim.2022.05.011","article-title":"Detection and characterization of male sex chromosome abnormalities in the UK Biobank study","volume":"24","author":"Zhao","year":"2022","journal-title":"Genet Med"},{"issue":"11","key":"2025071419563912400_bnaf005-B2","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1210\/jcem-2-11-615","article-title":"Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone","volume":"2","author":"Klinefelter","year":"1942","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2025071419563912400_bnaf005-B3","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1210\/jc.2002-021491","article-title":"Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study","volume":"88","author":"Bojesen","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2025071419563912400_bnaf005-B4","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13023-018-0976-2","article-title":"Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study","volume":"14","author":"Berglund","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"7156","key":"2025071419563912400_bnaf005-B5","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1016\/S0140-6736(60)91963-2","article-title":"A child with 49 chromosomes","volume":"2","author":"Fraccaro","year":"1960","journal-title":"Lancet"},{"issue":"3","key":"2025071419563912400_bnaf005-B6","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1001\/jama.1963.03700160055007","article-title":"An XXXYY sex-chromosome anomaly. 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