Infertility is a serious problem of our time, especially for young married couples who are fighting an uphill battle with it. Lots of married couples have difficulties when it comes to conception. About one in eight young married couples have problems when it comes to infertility. Most of them however due not seek professional help and instead rely on social media and the internet for answers. On the other hand there are couples who seek professional help, which is the right thing to do. But there are certain situation for which even modern medicine cannot provide answers or solutions. If medical professional cannot determine the cause or even propose solution for this problem, then it is highly likely that the couple will end up divorcing sooner or later. This is a tragic scenario, but there are couples which try in vitro fertilization or even adopt. The pain from these kinds of situation can push some people into superstition and make them vulnerable to scam artist and quasi doctors.

However all of this can be avoided if the affected couples tries genetic counseling first. By choosing genetic counseling first, we can help the couple find the exact cause of these difficulties. We come to the answers by taking into consideration the following: family history, medical documentation and genetic testing. Sometimes the truth can be harsh and difficult to accept, such as one of the partners never being able to have kids. On the other hand sometimes the couple can have kids if certain medical treatments and procedures are taken. This is the correct way to help couples dealing with infertility.


Male infertility         Female infertility

In the following text we will explain a bit deeper the genetic causes of infertility. These are new findings and as such can be hard to understand and accept. Reader discretion is advised.

Modern treatment options for infertility
We advise our readers to stay up to date with clinics that specialize in treating infertility. Sadly even these clinics rarely take into consideration the genetic causes of infertility.
The necessary approach needed
Treating infertility should be done both by clinical means and by using genetic counseling. By doing so we can successfully uncover and precisely treat the cause of the problem.
Genes and infertility

Infertility is caused by both external (environmental) factors and internal (genetic) factors. Genetic factors can cause anatomical defects in the male/female reproductive tract, sperm problems, hormonal issues in both men and women, low sperm count and viability, problems with conception and the early stages of pregnancy. Sometimes internal and external factors can cause infertility by their mutual relationship, viral infections as causes of infertility are a great example. The viral infection causes an autoimmune response due to the person specific genetic make-up.

There are countless genes which can mutate and cause infertility to arise. Due to their vast number we will list a certain number of them and their functions.

Genes associated with normal hormonal and hypothalamic function: KAL1, LEP, LEPR, AHC, ESR1, AR, LHCGR, LHB, ESR2, GNRH1, AMH, CGA, SHBG, CYP19A1, CYP1A1, and CYP21A2

Genes needed for the normal anatomy and function of the male/female reproductive tract: CFTR, AMH, DMRT1, VEGFA, SRY, TSPY3, AMHR2, OVGP1, BMP15, and DACH2

Genes needed for spermatogenesis in men and oogenesis in women: DAZ, AZF1, PRM1, PRM2, BPY, USP9Y, TNP2, CATSPER1, FSHB, ZP1, ZP2, ZP3, LHβ/LHB, hCGβ, POF1B, PABPC5, SHOX (PHOG), RPS4X, DIAPH2, FMR1, NROB1, DACH2, and BMP15

Other genes: FST, GSTT1, IL-6, MLH, IGF1, WT1, NRIP1, OXT, small RNA genes and so on

The amount of genes involved in this issue are vast and as such during genetic counseling, one should not try and chase after one particular gene but rather take the specific situation into consideration as a whole.


Genetic tests for infertility
  • SPATA 16
  • Y chromosome microdeletion
  • Synaptonemal complex protein 3
  • Calman syndrome
  • LSH, β polypeptide
  • LSH receptors
  • Androgen receptor gene
  • Cystic fibrosis transmembrane regulator
  • 46XY, sex reversal , Adrenocortical insufficiency, Spermatogenic failure, Cryptorchidism
  • POF panel
  • Ubiqitin Specific protease 9, Y chromosome
  • Gonadotropin releasing hormone receptor
  • FSH, β polypeptide
  • FSH receptor

It is proven that CLINICAL INVESTIGATIONS INTO AND GENETIC COUNSELING FOR INFERTILITY are the best corse of action that can be taken when facing this issue. This is the common approach in most developed countries.

You can read the following article for more:  Rolf-Dieter Wegner Matthias Bloechle Genetic testing in couples with infertility  Zentrum für Pränataldiagnostik, Kudamm 199 und Institut

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