title: Testis Development and Fertility Potential in Boys with Klinefelter Syndrome.
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.
authors.affiliation: 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.
authors.forename: Shanlee M
authors.initials: SM
authors.lastname: Davis
authors.affiliation: Department of Pediatrics, University of Virginia, 685 Explorers Road, Charlottesville, VA 22911, USA.
authors.forename: Alan D
authors.initials: AD
authors.lastname: Rogol
authors.affiliation: 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.
authors.forename: Judith L
authors.initials: JL
authors.lastname: Ross
mesh_terms: D006801:Humans; D007248:Infertility, Male / Q000209:etiology*; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D013737:Testis / Q000254:growth & development*
keywords: Klinefelter syndrome; Reproductive options; Sex chromosome aneuploidy; Spermatogenesis; Testicular function; Testis development; X-chromosome