{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T09:23:17Z","timestamp":1792574597068,"version":"4.5.0"},"reference-count":75,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T00:00:00Z","timestamp":1736726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T00:00:00Z","timestamp":1736726400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Klinefelter syndrome (KS) is an uncommonly recognised condition typified by gynaecomastia, small testes and aspermatogenesis. It is caused by a supernumerary X chromosome, resulting in a 47 XXY karyotype. Since its first description, the phenotype of KS has evolved and there is a much greater appreciation of the subtle features of the condition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>In this review, we explore the phenotype of the KS with particular consideration to patients with pre\u2010natal and early infancy diagnosis, given that this is becoming increasingly common. The current understanding of the genetic mechanisms of KS, caused by supernumerary X chromosome are explored and the genotype\u2010phenotype correlation are discussed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The implications of the condition both in childhood and later development are explored in detail, with particular focus on social and educational implications. Potential treatments, with emphasis on preservation of fertility are discussed. We highlight the optimal therapeutic conditions in which fertility preservation is most likely to be achieved, compared to those which can be more challenging. Finally, we discuss the other health challenges which can be associated with KS. These include poor bone health, diabetes, cardiovascular complications, and malignancy. The challenges in managing these co\u2010morbid conditions and most up\u2010to\u2010date management recommendations are also explored.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.15200","type":"journal-article","created":{"date-parts":[[2025,1,14]],"date-time":"2025-01-14T02:14:52Z","timestamp":1736820892000},"page":"565-573","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Klinefelter Syndrome: A Review"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0744-5275","authenticated-orcid":false,"given":"James","family":"Blackburn","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology Alder Hey Children's Hospital Liverpool UK"},{"name":"William Harvey Research Institute Queen Mary University of London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Ramakrishnan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Alder Hey Children's Hospital Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Graham","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Alder Hey Children's Hospital Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerina","family":"Bambang","sequence":"additional","affiliation":[{"name":"Department for Reproductive Medicine Liverpool Women's NHS Foundation Trust Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umasuthan","family":"Sriranglingam","sequence":"additional","affiliation":[{"name":"Department of Endocrinology University College London Hospitals London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Senthil","family":"Senniappan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Alder Hey Children's Hospital Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-2-11-615"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/183302a0"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpuro0775"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gaq019"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31786"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dew179"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/andr.12067"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-1954"},{"issue":"4","key":"e_1_2_10_10_1","first-page":"209","article-title":"Sex Chromosome Abnormalities Found Among 34,910 Newborn Children: Results From a 13\u2010Year Incidence Study in Arhus, Denmark","volume":"26","author":"Nielsen J.","year":"1990","journal-title":"Birth Defects Original Article Series"},{"issue":"4","key":"e_1_2_10_11_1","first-page":"1","article-title":"Edinburgh Study of Growth and Development of Children With Sex Chromosome Abnormalities. 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