Testis Development and Fertility Potential in Boys with Klinefelter Syndrome
Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes, and gynecomastia. Animal models, epidemiologic studies, and clinical research of male subjects with...
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Published in | Endocrinology and metabolism clinics of North America Vol. 44; no. 4; p. 843 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
United States
01.12.2015
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Abstract | Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes, and gynecomastia. Animal models, epidemiologic studies, and clinical research of male subjects with KS throughout the lifespan have allowed the better characterization of the variable phenotype of this condition. This review provides an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypogonadism and fertility in boys and men with KS. |
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AbstractList | Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes, and gynecomastia. Animal models, epidemiologic studies, and clinical research of male subjects with KS throughout the lifespan have allowed the better characterization of the variable phenotype of this condition. This review provides an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypogonadism and fertility in boys and men with KS. |
Author | Rogol, Alan D Davis, Shanlee M Ross, Judith L |
Author_xml | – sequence: 1 givenname: Shanlee M surname: Davis fullname: Davis, Shanlee M email: Shanlee.Davis@childrenscolorado.org organization: Department of Pediatrics, Children's Hospital Colorado, University of Colorado, 13123 East 16th Avenue, B264, Aurora, CO 80045, USA. Electronic address: Shanlee.Davis@childrenscolorado.org – sequence: 2 givenname: Alan D surname: Rogol fullname: Rogol, Alan D organization: Department of Pediatrics, University of Virginia, 685 Explorers Road, Charlottesville, VA 22911, USA – sequence: 3 givenname: Judith L surname: Ross fullname: Ross, Judith L organization: Department of Pediatric Endocrinology, A.I. DuPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Pediatrics, Thomas Jefferson University, 833 Chestnut Street, Philadelphia, PA 19107, USA |
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Keywords | Klinefelter syndrome Testis development Spermatogenesis X-chromosome Testicular function Reproductive options Sex chromosome aneuploidy |
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SubjectTerms | Humans Infertility, Male - etiology Klinefelter Syndrome - complications Male Testis - growth & development |
Title | Testis Development and Fertility Potential in Boys with Klinefelter Syndrome |
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