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 syndrome, in particular neurological/cognitive perturbations like language and behavioral problems. Effective therapies are available. Reproductive technologies allow 47,XXY men to sire offspring through intracytoplasmic sperm injection (ICSI); however, genetic counseling is complex and success is low. Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help. Early treatment may be imperative for optimal outcome.
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 syndrome, in particular neurological/cognitive perturbations like language and behavioral problems. Effective therapies are available. Reproductive technologies allow 47,XXY men to sire offspring through intracytoplasmic sperm injection (ICSI); however, genetic counseling is complex and success is low. Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help. Early treatment may be imperative for optimal outcome.
Authors: A F Radicioni; A Ferlin; G Balercia; D Pasquali; L Vignozzi; M Maggi; C Foresta; A Lenzi Journal: J Endocrinol Invest Date: 2010-12 Impact factor: 4.256
Authors: Peter Y Liu; Krista Erkkila; YanHe Lue; J David Jentsch; Monica Dorin Schwarcz; Deena Abuyounes; Amiya Sinha Hikim; Christina Wang; Paul W-N Lee; Ronald S Swerdloff Journal: Am J Physiol Endocrinol Metab Date: 2010-06-22 Impact factor: 4.310
Authors: Nicole Tartaglia; Susan Howell; Shanlee Davis; Karen Kowal; Tanea Tanda; Mariah Brown; Cristina Boada; Amanda Alston; Leah Crawford; Talia Thompson; Sophie van Rijn; Rebecca Wilson; Jennifer Janusz; Judith Ross Journal: Am J Med Genet C Semin Med Genet Date: 2020-06-07 Impact factor: 3.908
Authors: J H Park; M Burns-Cusato; E Dominguez-Salazar; A Riggan; S Shetty; A P Arnold; E F Rissman Journal: Genes Brain Behav Date: 2008-03-19 Impact factor: 3.449