06:52 22nd October 2017 | Genetic Infertility

Genetic Male Infertility Sex Chromosomes Klinefelter Syndrome X Chromosomes Y Chromosomes Sperm Production Low Spem Count Extra Sex Chromosomes Healthy Cell Development

There are various causes of male infertility, including genetic causes.

What if a new sperm creation method could overcome genetic male infertility?

Scientists from Francis Crick Institute in London and their Kyoto University colleagues made a monumental breakthrough. The new study, published in the journal Science, details how the new method could lead to genetic male infertility treatment.

Study ‘Fertile offspring from sterile sex chromosome trisomic mice’. Published 17 August 2017.

Genetic Causes of Male Infertility

Issues with sperm production and transport can be caused by gene mutations (less common) or changes to chromosomes (most common).

Chromosomal conditions that can affect sperm production and cause genetic infertility include:

• Klinefelter Syndrome: Affected men have an extra X chromosome. It is genetic and present from birth. Symptoms include the inability to produce sperm or lack of testosterone.
• Y Chromosome Deletions: Missing genetic material can cause poor sperm production and low sperm count. There are different types of Y chromosome deletions.
• Congenital Absence of the Vas Deferens (Rare): When several parts of the reproductive tract are missing from birth, sperm cannot move from the testes into the ejaculate.
• Down Syndrome: Abnormal sperm production in men who are also usually infertile.

Overcoming Infertility Caused by Extra Sex Chromosomes

A recent scientific breakthrough involved creating healthy, artificial sperm in a laboratory that enabled infertile mice to reproduce. The implications: hope for humans dealing with genetic male fertility.

Extra Chromosomes

Females should have two X chromosomes (XX) while males should have one X- and one Y chromosome (XY) for normal, healthy cell development. In some cases, males can have three chromosomes: XXY or XYY. It is a genetic disruption (known to interfere with mature sperm formation) that causes male infertility. 1 in 500 males are affected by this condition termed Klinefelter syndrome.

The Breakthrough Method

Ear tissue was collected from mice with XXY chromosomes as well as from mice with XYY chromosomes. Cells were cultured and the resulting connecting tissue were turned into stem cells. Somehow some cells lost their extra chromosomes. Chemical signals were then used to guide and encourage cells to turn into sperm cells after which they were injected into mice testes. There they developed into mature sperm cells that were used to fertilise eggs that produced healthy offspring that were fertile.

In some cases, the procedure caused tumours in some of the mice. Accordingly the team behind the breakthrough stressed that the technique is not safe yet. Much further development is needed before the method could be considered for treating male infertility. Additionally, the use of artificial sperm in humans is not (currently) lawful in the UK.

Are you facing male infertility challenges?
Do you know someone who may need help?

Please don’t hesitate to get in touch.

Email: enquiries@thebridgeclinic.com
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