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Review
. 2015 Dec;44(4):843-65.
doi: 10.1016/j.ecl.2015.07.008. Epub 2015 Sep 28.

Testis Development and Fertility Potential in Boys with Klinefelter Syndrome

Shanlee M Davis  1 , Alan D Rogol  2 , Judith L Ross  3
Affiliations
Review

Testis Development and Fertility Potential in Boys with Klinefelter Syndrome

Shanlee M Davis et al. Endocrinol Metab Clin North Am. 2015 Dec.

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.

Keywords: Klinefelter syndrome; Reproductive options; Sex chromosome aneuploidy; Spermatogenesis; Testicular function; Testis development; X-chromosome.

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References

    1. Gudeman SR, Townsend B, Fischer K, Walters RC, Crain D. Etiology of Azoospermia in a Military Population. The Journal of urology. 2014 Oct 16; - PubMed
    1. Nakamura Y, Kitamura M, Nishimura K, et al. Chromosomal variants among 1790 infertile men. International journal of urology : official journal of the Japanese Urological Association. 2001 Feb;8(2):49–52. - PubMed
    1. Klinefelter HF, ECR, Albright F. Syndrome Characterized by Gynecomastia, Aspermatogenesis without Aleydigism, and Increased Excretion of Follicle-Stimulating Hormone. J Clin Endocrinol. 1942;2:615–627.
    1. Lo JO, Cori DF, Norton ME, Caughey AB. Noninvasive prenatal testing. Obstetrical & gynecological survey. 2014 Feb;69(2):89–99. - PubMed
    1. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003 Feb;88(2):622–626. - PubMed