TY - JOUR
T1 - Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome
T2 - a comparative review
AU - Ridder, Lukasochsner
AU - Berglund, Agnethe
AU - Stochholm, Kirstine
AU - Chang, Simon
AU - Gravholt, Claus H.
N1 - Publisher Copyright:
© 2023 the author(s) Published by Bioscientifica Ltd.
PY - 2023/5
Y1 - 2023/5
N2 - 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.
AB - 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.
KW - 47, XYY
KW - Jacobs syndrome
KW - Klinefelter syndrome
KW - morbidity
KW - mortality
U2 - 10.1530/EC-23-0024
DO - 10.1530/EC-23-0024
M3 - Review
C2 - 37098811
AN - SCOPUS:85159393774
SN - 2049-3614
VL - 12
JO - Endocrine Connections
JF - Endocrine Connections
IS - 5
M1 - e230024
ER -