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Male Infertility MAY BE HEREDITARY

Infertility is defined as failure to conceive in the setting of regular intercourse within 1 year for women younger than 35 years or within 6 months for women older than 35 years. It affects both men and women. Approximately one in six couples wishing to start a family fall into this category. It is now estimated that nearly 50% cases of infertility have a genetic basis.

The genetic factors posing infertility in males that impair spermatogenesis includes numerical chromosomal anomalies such as

  • Klinefelter syndrome
  • structural chromosomal anomalies such as Y-chromosome microdeletions
  • certain single gene mutations
  • syndromic diseases and
  • epigenetic mutations

With a proper knowledge about the problems, the couples can make important decisions about family planning and it also helps the physician to adopt an effective course of action.

According to definition of the World Health Organization, infertility is a disease of the reproductive system wherein a sexually active couple is unable to conceive. A healthy young couple in their mid-twenties has only a 20–25% chance of establishing a pregnancy in each cycle and thus a range of factors, each with different extents of genetic control, may influence their chances.

A systematic analysis of health surveys of infertility since 1990 shows that 48.5 million couples are not able to have child within 5 years in the year 2010. Almost 70 million couples are infertile worldwide and the technologies that help in assisting reproduction are expensive.

Several genetic factors accounting for male infertility have been outlined. It is guessed that in about 15% of male infertile subjects genetic abnormalities could be present.The established genetic causes of infertility include chromosomal aberrations, single gene variants, pelvic adhesions, tubal blockage and phenotypes with multifactorial inheritance.

The genetic basis of infertility of males:

Male infertility accounts for 15 % of all the infertility cases. Male infertility can be a multifactorial disorder. Based on case study, the reason for 30% of male infertility is not known and the reasons may be buried in genetic defects. The genetic cause of male infertility includes mitochondrial DNA mutations, endocrine disorders of genetic origin and chromosomal abnormalities. The non-genetic causes include hypogonadism, disorder in sperm cell development and its movement, infection, medication, chronic illness and immunological conditions.

The recent findings of male infertility are discussed as follows:


Male hypogonadism is a condition in which the body doesn’t produce enough amount of the hormone testosterone that plays a key role in masculine growth and development during puberty It also results in impaired ability to produce sperm or both.Several genetic defects may result in this disorder.Symptoms includes body hair loss, osteoporosis, infertility and muscle loss.

Development of sperm cell and its movement:

The sperm cell development can get compromised due to certain factors such as physical trauma, insufficient nutrition, use of drug. Illness, etc. this ultimately affects the fertility. Macrozoospermia, Globozoosprmia, inability of sperm cell to penetrate the membrane of egg cell and many such disorders of ill developed sperm cells may be due to hereditary defects.

The most common genetic causes of infertility are chromosomal conditions that affect sperm production. These include:

  • Klinefelter’s syndrome
  • Y chromosome deletions
  • Other genetic problems, such as Down syndrome.

In general 20-50% cases of male infertility are termed as idiopathic i.e. fertility of unknown reason and makes it difficult for the physician to adopt a confident course of action. It is being found out that most of these cases have a genetic basis and thus it is becoming helpful for the physicians and couples as it allows the couples to consider all suitable reproductive options.

The genetic test may be prescribed for cases for male patients with:

  • very low sperm counts
  • no sperm observed
  • suggestive physical features (e.g. small testicle size)
  • several miscarriages

Knowledge about genetic basis of male infertility helps a doctor to take more useful steps or decisions about assisted reproductive  techniques.

Often the doctors opt for ICSI for patients with low sperm count. But forceful injection of sperms curbing the natural selection of healthy sperms for fertilizing the ovum may cause serious problems. These may include

  • Genetic abnormalities may be forcefully passed on to the next generation
  • Sometimes the babies are born with some abnormalities which are very rare in nature like Beckwith-Wiedemann syndrome, which includes kidney problems, low blood sugar and an increased risk of childhood tumors.

Knowledge if the patient has a genetic defect may help the couple and the doctor to decide if they will prefer taking sperm from the patient himself or utilize sperm from a donor. Screening of the donor for such abnormalities are also important.

We prefer a non-invasive sampling approach. Just two ml of your saliva deposited in a specialized collector at the ease of your home will do.

Our state of the art labs decode your personal genome and compares with the standard to look the variations.

All variations may not relate to a disease.Pathogenic variations are meticulously identified by our team of scientists.

All technical jargons simplified into an easy to understand report.

Our friendly genetic counsellor explains the report to you and answers your doubts if any

If any risk is identified, you may talk to a physician to work out a health plan of suitable alteration of a lifestyle, regular screening program and others.

Remember, awareness to a disease susceptibility is the first step to prevent or manage it.

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