Male Infertility Genetics

Dr Richa Sharma, Dr Amit Basnotra
Genetics plays an important role when we talk of ART(Asssited Reproductive techniques) as everyone wants their genes to be carried further to the next generation but some may be suffering from treatable or resistant conditions or those which carry high risk of passing on to the genetic defects so not advisable to go by the routine ways of treatment. Such couples need indvidualization of treatment approach
Infertility affects upto up to 15% of couples of reproductive age.With advanced science many new options have paved the way.
A clear diagnosis of the cause of male factor infertility can be made in only a small proportion of men who present with infertility as many will be labeled as idiopathic male factor infertility for which there are no specific therapies and to add to worries is that there is no single test which can predict the fertility potential of an individual as there may be many confounding factors in that
Genetic abnormalities in males can vary from chromosomal abnormalities to numerical and structural involving autosomes and sex-chromosomes and microdeletions on Y-chromosome and their application is key to management and counseling of such couples
What are the Implications of Genetics abnormality in Male Infertility ?
Male infertility can have variable causative factors ranging from specific cause to idiopathic (unknown factors) to genetic factors
It helps us to –
* Study into depth of problem of male infertility which was earlier ignored or not taken care of
* Genetic counseling Of couples affected with this problem
Clinical Presenatation-
* Patient may be asymptomatic,has wide spectrum of sign symptoms as part of some syndromes or anomalies
* Long history of primary infertility
* May have family history of subfertility or Infertility or delayed conception
* May have history of birth of babies with abnormalities or intrauterine demise
* History of recurrent miscarriages
* Deviated growth pattern and secodary sexual charactersitics
* Derranged semen parameters ranging from oligozoopsermia to teratozoospermia to nil sperms(Azoospermia)
Whats the need of Genetics in Male Infertility and what can be done ?
Assisted reproductive technologies (ARTs) such as intracytoplasmic sperm injection (ICSI) provide chance of baby in such cases provide they don’t have any genetic abnomalities so that their own sperms can be used as use of chromosomally abnormal sperm from these patients may result in transmission of genetic abnormalities to their prospective child
Prevention is better than cure
Science has no doubt advanced but not all aspects still covered as many grey zones there which needs lots of reseraches
What we can do at present is to detect and diagnose genetic defects at early stage so that future generation can be spared
That’s why screening for genetically determined male factors is very important before enrolment for assisted reproductive technologies and it can be done by various means like –
Peripheral blood karyotyping
Testicular biopsy (Diagnostic and Therapeutic both)
Analysis of chromosomal constitution of spermatozoa
DNA analysis of blood and spermatozoa to detect microdeletion on Y chromosomes and DNA damage percentage can also be checked by DNA Fragmentation Index(DFI)
Types of Genetic Abnormalities-
Numerical Abnormalities
46, XX Males
Structural Abnormalities of Y Chromosome
Reciprocal Translocations Involving Sex Chromosomes
Microdeletions on Y Chromosome
Robertsonian Translocations
Reciprocal Translocations
It has been observed that there is an increase in the percentage risk of chromosome abnormalities in the infertile male population as compared to the general population adding to the transmission risk to the next generation too. But not to forget that thorough investigation of the man should be accompanied by investigating his partner too as at least a third of couples with infertility have problems with both partners
(The authors are Senior IVF and Fertility Consultant and Senior Gastroentrologist)