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 inEndocrinology and metabolism clinics of North America Vol. 44; no. 4; p. 843
Main Authors Davis, Shanlee M, Rogol, Alan D, Ross, Judith L
Format Journal Article
LanguageEnglish
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.
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
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  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
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  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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Issue 4
Keywords Klinefelter syndrome
Testis development
Spermatogenesis
X-chromosome
Testicular function
Reproductive options
Sex chromosome aneuploidy
Language English
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Snippet Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original...
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StartPage 843
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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