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Genetic Counseling for male factor infertility
Genetic Counseling for male factor infertility
Must for Good IVF centre
*Dr.Sharda Jain ** Dr. Abhishek Prihar

Male Factor infertility is not given due focus in test-tube baby centers in DelhiLifecare IVf Centre , runs a dedicated clinic for Azoospermia . Another area of Genetic testing & counseling have to find definite place in good IVF services in Delhi It is pertinent to share that 40% of our IVF – ICSI cases in last one year were due to Male Factor only.
Genetic causes of Male Factor Infertility in our IVF centre
can be divided into four main categories

  1. Chromosomal abnormalities (e.g. Klinefelter Syndrome)
  2. Microdeletion in the Y chromosomas
  3. Congenital bilateral absence of vas deferens (CBAVD\)
  4. Rare genetic syndromes.

Dr.Sharda Jain

The reproductive impairment for men with genetic causes of infertility typically involves the failure to produce sperm the failure of sperm transport i.e. obstruction in the male reproductive tract (vas deferens); and / or the risk of transmission of a genetic disorder to offspring

For men with Azoospermia ( no sperm) or low sperm counts (Oligospermia), sperms can be retrieved through aspiration using microsurgical epididymal sperm aspiration (MESA) or testicular sperm extraction (TESE). Fertilization can than be achieved through the use of sperm injection into the oocyte using intracytoplasmic sperm injection (ICSI) during IVF.
Despite these advances, IVF – ICSI does not overcome the basic genetic disorder causing infertility. This means affected mean still have a chromosomal abnormality and consequently, their offspring may be at risk of the some disorder as well.
This couple should be properly informed about Genetic testing as well as prenatal testing like PGD is available in few IVF centre in Delhi.
They should also be counseled about the possibility of transmission of the same defect to their son and how this may impact their son’s fertility. Alternatively, IVF/PGD may be a treatment option for men with Y microdeletion and other chromosomal abnormality to reduce the risk of transmission of the disorder, typically by selecting only normal embryos for transfer

  • Klinefelter syndrome : is the most common chromosomal disorder impacting fertility in men.
    Incidence is 1 in 1,000 causing impaired spermatogenesis , infertility and azoospermia. Klinefelter syndrome is a chromosomal disorder affecting males born with a karyotype of 47, XXY with symptoms including small testes, absence of sperm, enlarged breast , high levels of FSH, learning disabilities and behavioral problems.
    Treatment options a). MESA /TESE – IVF - ICSI )
    b). IVF-= PGD
  • Microdeletion in Y Chromosome
    Several genes have been identified as playing an important role in spermatogenesis. Microdeletion of the Y chromosome , in the region of Y chromosome called AZFa, AZFb and AZFc, cause azoospermia or severe oligospermia in 10 – 20 % cases They do not have any other health or genetic problems.Testing cost 12 thousand rupees.
    Family building option:
    PGD is a marvelous technique which allow genetically – normal female embryo to be transfered through IVF - PGD technology as it identifies and uses only unaffected embryos.
  • CBAVD : This Male is asymptomatic carrier of cystic fibrosis
    These men face not only the diagnosis of cystic fibrosis but also the potential risk of transmitting cyctic fibrosis to their offspring. Cystic fibrosis is inherited as an autosomal recessive pattern and thus CF carrier testing should be offered to the female partner to assess the couple’s risk of having a child with either classical or nonclassicle cystic fibrosis. If female partner is also a carrier, couple have a 25.0 % chance of having a child with this genetic disorder ,which is typically a very serious disease and 50% chance of having a child who is also a carrier like parents.
    Genetic counseling for these couple involves addressing number of issues.

1. The dual diagnosis of a chronic medical condition (CF) and sterility
2. The risk that other family members may also be at risk for undiagnosed CF
3. The risk of transmitting to offspring if the couple or men decide to use his own sperm.

Family building options : for couple with CBAVD:
IVF/ ICSI following sperm retrieval using MESA or TESA. Particularly if the wife is NOT a CF carrier . 5 .IVF/PGD is also a viable option for couple with CBAVD specially if wife too is a carrier.
  • RARE Genetic Syndromes.
    There are numerous other rare conditions that are associated with male infertility. These include , Kartagener syndrome, Myotonic dystrophy , Adrenomyeloneropathy, and Androger receptor mutations seen in spinal and bulbar muscular atrophy. Typically, these conditions are diagnosed in childhood, as these condition involve a variety of health concerns and infertility is secondary to genetic syndrome. These men are typically aware of the genetic diagnosis prior to their presentation at the infertility clinic or IVF centre. The inheritance pattern of any given genetic syndrome varies, and genetic counseling to review and / or clarify risk to future offspring is recommended.
    This article thus emphasizes that Lifecare IVF has facility for genetic testing & genetic counseling for male infertility patients & we offer family building options as detailed above.
Author: Dr. Sharda Jain (M.D. (PGIMER) MNAMS, FICOG, FIMSA, DHM,QM & AHO)
Project Director of Lifecare IVF
Medical Director of Lifecare Centre, Vikas Marg, Delhi India.
Lifecare IVF is known for high quality and ethical standard in the field of infertility

Secretary General of Delhi Gynaecologist Forum, Gynae Expert of
Delhi Madical Council 
  Dr Abhishek Singh Parihar
MBBS ,MS , Fellow. Reproductive Medicine
Consultant – Reproductive Medicine
Lifecare Institute of Infertility & IVF.
11, Gagan Vihar, (Near Karkari Morh Flyover)
Delhi - 110051.
91-11-22414049, 22058865
Management of Polycystic Ovarian Syndrome Controlled Ovarian Stimulation IUI (Intrauterine Insemination) IVF – Invitro Fertilisation ICSI-Intracytoplasmic Sperm Injection Natural Cycle and Minimal Stimulation IVF Cryopreservation (Sperms,Eggs & Embryos) Donor Programme (Sperms, Eggs, Embryos) Preimplantation Genetic Screening Fertility Enhancing Surgeries Recurrent Miscarriages
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