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What genetic disorders cause infertility?

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2 fertility expert(s) answered this question

Are there any known genetic disorders affecting fertility?

Some genetic conditions are well known and described as the ones that cause infertility. Even a single gene defect can lead to some health conditions that can, in turn, cause problems with your fertility. Also, abnormal chromosomes can be a direct cause of male infertility.

Answer from:
Gynaecologist, Deputy Clinical Director at CRGH, Associate Professor at UCL
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Fertility treatment, fertility problems or infertility problems as mentioned are multifactorial. They include environmental causes, they involve genetic causes. There’s no single gene that is associated with infertility however, when we say that there are genetic causes, this can be even further divided into chromosomal problems or problems involving genes. When I mention chromosomal problems, all human beings on the planet have 46 chromosomes, humans that have additional number of chromosomes or missing number of chromosomes, most of the time, these chromosomal abnormalities are not compatible with life. The ones that are compatible with life have the names of people next to them like Down’s, like Edward’s, like Patau’s. In addition to other abnormalities, like missing chromosomes, like Turner, like additional chromosomes like Klinefelter and others. So in people who have chromosomal problems, mainly related to something called a translocation or a reciprocal translocation where part of one chromosome is sitting on the other chromosome, while these individuals have the full set of chromosomes, when it comes to creating a child, they might struggle having a child and if this unbalanced translocation or this translocation is passed to their children, there’s a possibility for the fertility issue to be passed on as well. There are other gene issues, there are lots of genes that might be associated with fertility issues. I’m going to mention one of them for instance, like the Y chromosome deletion if present in men that means it will be transmitted to all boys or to all the sons of that specific couple where sons of men suffering from the Y chromosome deletion will also have fertility issues.

Answer from:
Gynaecologist, Chair of the British Fertility Society, Consultant at Manchester University NHS Foundation Trust
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In men, cystic fibrosis is a very common genetic condition in our population in the UK and men with cystic fibrosis can have absence of sperm in their ejaculate and this is a condition that is genetically based and is diagnosable by having a specific genetic testing for it. In women, you have Turner syndrome in which the ovaries don’t develop normally. This is also diagnosable by doing genetic testing for chromosomes. Usually the X chromosome is missing or partly missing in women with this condition.

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