Y Chromosome Infertility (DAZ)

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UMLS 71 C1507149 C3711648

NIH Rare Diseases : ⁵² Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia. As its name suggests, this form of infertility is caused by changes in the Y chromosome , one of the sex chromosomes . Y chromosome infertility is usually caused by deletions of genetic material in regions of the Y chromosome called azoospermia factor (AZF) A, B, or C. Genes in these regions are believed to provide instructions for making proteins involved in sperm cell development, although the specific functions of these proteins are not well understood. In rare cases, changes to a single gene called USP9Y , which is located in the AZFA region of the Y chromosome, can cause Y chromosome infertility. Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Assisted reproductive technologies may help other affected men. Because Y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the Y chromosome and occurs in men with no history of the disorder in their family. When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass on the genetic changes on the Y chromosome to all their sons. As a result, the sons will also have Y chromosome infertility.

MalaCards based summary : Y Chromosome Infertility, also known as y chromosome-related azoospermia, is related to infertility and phelan-mcdermid syndrome. An important gene associated with Y Chromosome Infertility is BPY2 (Basic Charge Y-Linked 2). Affiliated tissues include testes and myeloid, and related phenotypes are abnormality of metabolism/homeostasis and azoospermia

Genetics Home Reference : ²⁵ Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected men to father children. An affected man's body may produce no mature sperm cells (azoospermia), fewer than the usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. Men with Y chromosome infertility do not have any other signs or symptoms related to the condition. Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Men with oligospermia may also be helped with assisted reproductive technologies; most men with Y chromosome infertility have some sperm cells in the testes that can be extracted for this purpose.

GeneReviews: NBK1339

Search NIH Clinical Center for Y Chromosome Infertility

Search GEO for disease gene expression data for Y Chromosome Infertility.