Abstract
Klinefelter syndrome (KS) is characterized by a masculine phenotype, supernumerary sex chromosomes (usually XXY), and spermatogonial stem cell (SSC) loss in their early life. Affecting 1 out of every 650 males born, KS is the most common genetic cause of male infertility, and new fertility preservation strategies are critically important for these patients. In this study, testes from 41, XXY prepubertal (3-day-old) mice were frozen-thawed. Isolated testicular cells were cultured and characterized by qPCR, digital PCR, and flow cytometry analyses. We demonstrated that SSCs survived and were able to be propagated with testicular somatic cells in culture for up to 120 days. DNA fluorescent in situ hybridization (FISH) showed the presence of XXY spermatogonia at the beginning of the culture and a variety of propagated XY, XX, and XXY spermatogonia at the end of the culture. These data provide the first evidence that an extra sex chromosome was lost during innate SSC culture, a crucial finding in treating KS patients for preserving and propagating SSCs for future sperm production, either in vitro or in vivo. This in vitro propagation system can be translated to clinical fertility preservation for KS patients.
Highlights
IntroductionDNA fluorescent in situ hybridization (FISH) showed the presence of XXY spermatogonia at the beginning of the culture and a variety of propagated XY, XX, and XXY spermatogonia at the end of the culture
Section of Medical Genetics, Department of Pathology, Wake Forest School of Medicine, Division of Endocrinology, The Lundquist Institute and Harbor-UCLA Medical Center, Abstract: Klinefelter syndrome (KS) is characterized by a masculine phenotype, supernumerary sex chromosomes, and spermatogonial stem cell (SSC) loss in their early life
Klinefelter syndrome is a chromosomal alteration presenting with a masculine phenotype, with one Y chromosome and at least two X chromosomes (47 XXY being the most common genotype) [1]
Summary
DNA fluorescent in situ hybridization (FISH) showed the presence of XXY spermatogonia at the beginning of the culture and a variety of propagated XY, XX, and XXY spermatogonia at the end of the culture These data provide the first evidence that an extra sex chromosome was lost during innate SSC culture, a crucial finding in treating KS patients for preserving and propagating SSCs for future sperm production, either in vitro or in vivo. Introduction with regard to jurisdictional claims in Klinefelter syndrome is a chromosomal alteration presenting with a masculine phenotype, with one Y chromosome and at least two X chromosomes (47 XXY being the most common genotype) [1] It affects around 1 out of 650 newborn males and, despite remaining widely underdiagnosed, represents the leading genetic cause for male infertility [2,3]. Little is known about the preceding pathophysiologic process except that germ cell loss starts in the fetus [5,6,7,8], accelerates around the onset of puberty [9], and progresses to azoospermia in most adult patients [10,11]
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