Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review

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Abstract

Context: Klinefelter syndrome (KS, 47,XXY)and 47,XYY syndrome are genetic conditions characterized by a supernumerary sex chromosome. The conditions share many traits, but considerable phenotypic differences are seen between the two. Focusingon morbidity, mortality, and socioeconomics, this review highlights similarities and differences. Methods: Relevant literature was identified through PubMed with the following search terms; 'Klinefelter', '47,XXY', '47,XYY', and 'Jacobs syndrome'. Included journal articles were chosen at the authors’ discretion. Results: KS and 47,XYY are the most common sex chromosome disorders in males, with an expected prevalenceof 152 and 98 per 100,000 newborn males, respectively. Nondiagnosis is extensive, asonly about 38%of KS and 18%of 47,XYY are diagnosed. Both conditions are associated with an increased mortality risk and increased riskof a varietyof diseases andother health-related problems affecting virtually every organ system. Early diagnosis seems to predict a lesser comorbidity burden. Neurocognitive deficits as well as social and behavioral problems are commonly described. Both syndromes are associated with poor socioeconomic for example, lower income and educational level and higher ratesof crime. Infertility is a hallmarkof KS, but fertility seems also reduced in 47,XYY. Conclusion: Being born as a boy with an extra Xor Y chromosome is associated with increased mortality and excess morbidity, partially expressed in a sex chromosomespecific pattern. Both syndromes continue to be greatly underdiagnosed, even though early intervention may improve theoveralloutcome. Earlier diagnosis to initiate timely counseling and treatment should be emphasized.

Original languageEnglish
Article numbere230024
JournalEndocrine Connections
Volume12
Issue5
ISSN2049-3614
DOIs
Publication statusPublished - May 2023

Keywords

  • 47, XYY
  • Jacobs syndrome
  • Klinefelter syndrome
  • morbidity
  • mortality

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