Klinefelter syndrome: Expanding the phenotype and identifying new research directions

  title={Klinefelter syndrome: Expanding the phenotype and identifying new research directions},
  author={Joe Leigh Simpson and F Sebasti{\'a}n de la Cruz and Ronald S. Swerdloff and Carole Samango-Sprouse and Niels Erik Skakkebaek and J. M. Graham and Terry J. Hassold and Melissa Aylstock and Heino F L Meyer-Bahlburg and Huntington F. Willard and Judith Goslin Hall and Wael A. Salameh and Kyle Boone and Cath{\'e}rine Staessen and Daniel H. Geschwind and Jay N. Giedd and Adrian Dobs and Alan D Rogol and Bonnie Brinton and Christine A Paulsen},
  journal={Genetics in Medicine},
Purpose The purpose of this study is to summarize new data on etiology and clinical features of Klinefelter syndrome in order to derive research priorities.Methods This study was conducted using critical reviews of selective topics, emphasizing less well-recognized clinical findings.Results And Conclusions The phenotype of the prototypic 47,XXY case is well recognized: seminiferous tubule dysgenesis and androgen deficiency. Less well appreciated is the varied expressivity of 47,XXY Klinefelter… CONTINUE READING
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