Genetic Disorders & Infertility

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Genetic Disorders & Infertility

Genetic factors such as Klinefelter syndrome (affecting approximately 1 in 1,000 males) and Y chromosome microdeletions (found in about 15% of men with low sperm counts or azoospermia) can significantly impair sperm production and lead to male infertility.

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General Infertility Causes

Genetic Disorders & Infertility Causes

Genetic disorders can play a significant role in male infertility by affecting sperm production, motility, and overall reproductive function. Certain genetic abnormalities can lead to azoospermia (absence of sperm), oligospermia (low sperm count), or sperm with abnormal morphology. These conditions can make natural conception difficult or impossible without medical intervention.

Some of the most common genetic conditions that contribute to male infertility include:

  • Klinefelter Syndrome (XXY Chromosome): Affects sperm production and testosterone levels, often leading to infertility.
  • Y-Chromosome Microdeletions: Missing genetic material on the Y chromosome can impair sperm production.
  • Cystic Fibrosis Gene Mutations: Often associated with congenital absence of the vas deferens (CAVD), preventing sperm transport.
  • Kallmann Syndrome: A disorder affecting hormone production, leading to low testosterone and infertility.

  • Genetic testing is crucial for diagnosing male infertility caused by genetic factors. Common diagnostic tests include:

  • Karyotyping: Examines chromosomal structure to detect abnormalities like Klinefelter syndrome.
  • Y-Chromosome Microdeletion Testing: Identifies missing genetic material affecting sperm production.
  • Cystic Fibrosis Gene Testing: Determines if mutations are affecting sperm transport.
  • Hormonal Tests: Evaluates testosterone and other hormone levels to assess reproductive function

  • Treatment options depend on the type and severity of the genetic disorder:

  • Assisted Reproductive Techniques (ART):Techniques like ICSI (Intracytoplasmic Sperm Injection) can help men with low sperm count or poor sperm motility achieve conception.
  • Hormonal Therapy: Can help in cases of hormonal imbalances due to genetic disorders like Kallmann syndrome.
  • Surgical Interventions: In some cases, sperm retrieval procedures like TESE (Testicular Sperm Extraction) can be used for men with non-obstructive azoospermia.
  • Genetic Counseling: Couples planning to conceive can benefit from counseling to understand risks and explore reproductive options. If you suspect genetic factors may be contributing to infertility, Jananam Fertility offers expert genetic screening, diagnosis, and treatment options tailored to your needs. Contact us today to explore your options for parenthood.

  • Genetic issues may arise as a result of multifactorial inheritance. This comprises the presence of one or more genes as well as exposure to environmental influences.Certain medical disorders like diabetes, heart issues, asthma, obesity, and malignancies do not all have a single hereditary aetiology.

    They are frequently connected to the interactions between several genes and specific environmental or lifestyle factors. Consequently, determining a person's likelihood of inheriting these illnesses is exceedingly difficult.

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