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Historically, only 25% of individuals with KS came to medical attention, for a range of issues across the life course including under\u2010virilisation at birth, developmental and social concerns in childhood, absence, delay or arrest of puberty in adolescence or infertility in adulthood. Our understanding of the phenotypic spectrum of KS has been largely influenced by this ascertainment bias. With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population\u2010based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.<\/jats:p>","DOI":"10.1002\/pd.6250","type":"journal-article","created":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T05:35:07Z","timestamp":1665639307000},"page":"240-249","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Klinefelter Syndrome: What should we tell prospective parents?"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8636-239X","authenticated-orcid":false,"given":"Mary","family":"White","sequence":"first","affiliation":[{"name":"Department of Endocrinology &amp; Diabetes The Royal Children's Hospital  Parkville Victoria Australia"},{"name":"Health Services Research Unit The Royal Children's Hospital  Parkville Victoria 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