KS can influence many aspects of a person's entire life, starting very soon after conception. Therefore, many branches, sections, and laboratories at NICHD conduct research that is relevant to males with XXY or poly-KS variations.
KS arises from an unusual number of sex chromosomes, so research into these is important to finding ways to prevent or one day cure KS. Several components of the Division of Intramural Research are studying these types of problems. The Section on Epigenetics and Development is studying how X chromosome genes influence brain, reproductive, metabolic, and immune system development. The Section on Gamete Development is studying the fruit fly for insight into early gamete cell division and how an additional X chromosome can become included. Other scientists are examining the formation of male germ cells, which are present before and after fertilization and can contain an extra X. In the Section on Clinical Genomics, scientists apply information gained from biochemical and genomic studies to clinical investigations, while also studying the biomechanical mechanisms that may contribute to genetic disorders.
Infertility is a key symptom in KS and many researchers at NICHD are involved in improving understanding of how sperm production fails, starting from early in development. In the Section on Clinical Genomics, scientists developed mouse models to analyze proteins that may be key in sperm production. Other research aims to explain the network of genes involved in the renewal and differentiation of spermatogonial stem cells, meiosis, and the post-meiotic differentiation of germ cells. Researchers are also exploring mechanisms behind sperm creation and the function of Leydig cells, which produce testosterone in the presence of luteinizing hormone, and searching for new gonadotropin-regulated genes involved in testicular gametogenesis, Leydig cell function, and other endocrine processes that are disrupted in KS.
Aside from infertility, scientists are working to find ways to treat other symptoms associated with KS. The Child Development and Behavior Branch (CDBB) is examining the behavioral, neurobiological, and genetic aspects of typical development and is focusing on factors that can threaten normal development. CDBB researchers are also studying prevention steps and, where intervention is needed, the most effective conditions and timing. Their findings will have implications for boys with KS, who can have some learning difficulties, such as in processing language.
Researchers in the Pediatric Growth and Nutrition Branch focus on nutritional science, childhood antecedents of adult disease, developmental endocrinology, developmental neuroendocrinology, and physical growth and body composition. Topics relevant to KS males include bone weakness and gender identity issues.
The projects below also study aspects of health and infertility that might be related to KS.
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