Kishan Icon 90/2, 2nd Floor,

Outer Ring Road Marathahalli Near Innovative Multiplex Bangalore- 560037

+91 87629 25555

Mon-Sat 8:00am-:8:00pm

Importance Of Genetic Testing In Male Infertility

Importance Of Genetic Testing In Male Infertility

Genetic testing in male infertility

It is estimated that men are responsible for 40-50% infertility cases. Known genetic factors are responsible for 20% of male infertility 30-60% of azoospermia is idiopathic & require factor genetic testing.

2 important reasons for testing is-

(a)- To identify possible genetic defects with risk transmission to offspring through ART

(b)- To detects genetic disorders importing the ability to obtain spermatozoa through sperm retrieval techniques such as micro TESE etc.

Genetic tests- karyotyping CFTR mutation screening Y chromosome micro detection

  1. Karyotyping- recommended for all men having fetal notice sperm count <5 million &men with non-obstructive azoospermia.
  • Chromosomal abnormalities are detected are aneuploidy (e.g.-trisomy) &structured ( e.g.- inversions /translocations)
  • Genetic technique

   (A) Karyotyping –Giemsa/trypsin staining on metaphase derived from peripheral blood lymphocytes

  (B) Molecular genetic testing –FISH&CGH.

Klinefelter syndrome- 47XXY karyotyping most common chromosomal aneuploidy up to 12% of men in azoospermia .

Infertility due to defect in spermatogenesis leading to azoospermia /severe oligozoospermia.


10-20%- 46x4/47xx4,48xxxy or 48xxyy

Main genetic cause- meiotic nondisjunction

According to ASRM (American society for reproductive medicine)

Men with non-obstructive azoospermia & severe oligozoospermia must be offered high resolution karyotype before using sperm for ICSI.

  1. Y chromosome micro detections (AZF)- micro detections occurs most frequently on long arm of Y chromosome Y q. Y chromosome deleted regions are mapped to 3azoospermia factor (AZF)-AZFa ,AZFb& AZFc.

(1) AZFa detection-sertoli cell only syndrome.

(2)  AZFb detetion- spermatogenic arrest

(3)  AZFc- sectoli cell only syndrome to oligozoospermia

(Residual spermatogenesis – success rate 50-70%)

Technologies used –polymerase chain reaction technique.

     (3)CFTR- gene defects & obstructive azoospermia –

 CFTR related male infertility is subdivided into following phenotypes:--

  • Congenital bilateral absence of vas deferens(CBAVD)
  • CBAVD having unilateral renal anomalies
  • Congenital unilateral absence of vas deferens (CBAVD)
  • Ejaculatory duct obstruction

CFTR gene is on chromosome 7q 31.2 CFTR gene contains 27 axons &three are >2500 mutations repeated ranging from most lethal cystic fibrosis (CF) to mild phenotype CBAVD screening of female partner for CF carrier is essential for calculating accurate genetic risks & offering counseling & treatment option .PGS is recommended when female partner of CBAVD has CFTR mutation .

Algorithm for genetic investigations of male infertility.


Testis                                 testis>10                               testis size< (8-10ml)

Low semen volume         biopsy               biopsy

Low PH                    hypermatogenesis     germ cell at rest     sertoli cell

Absent vas deference Y chromosome   Y micro deletions     C-kit/set

On palpation                   micro deletion   meiotic arrest gene Bcl-W

  CFTR gene testing                                                                         ERX

Female partner carrier screening

Genetic counseling.


                                                Testis size c 8-10 ml

Low                                                                              (N)or high FSH

FSH /LH/T                                                              FSH receptor mutation

Kallmann syndrome                                            Y micro detections

                                                                                Meiotic arrest genes

                                                                                Genetic counselling

Oligospermia-sperm count <5-10 million


        Y micro detecting

         AR mutations     


Related Post

Chances Of Getting Pregnant On Ovulation Day

As A Female, Getting Pregnant And Becoming  A Mom Is The One You Usually Want After Enjoying Your Married Life For Cert

Read More
Stomach Pain During Pregnancy - What You Need To Know

Most Of The Time, You Need To Do Nothing With Your Abdominal Pain And Cramps During Your Pregnancy. However, Some Sympto

Read More
Chances Of Going Into Labor At 38 Weeks

The Baby Has Been Defined As Being Born At Term If The Baby Comes Into The World Between 37 Weeks And Before The Beginni

Read More
How Many Injections Are Needed For IVF Treatment

The Doctors Usually Administer IVF Injections In The Belly, Thigh, Or Arm Of The Patient. The Injections Are Safe And Us

Read More
Weight Management - Myth : Dieting Means To Eat Salads

I Would Love To Work With Each One Of You And Come Up With Customized Plans And Guidance That You Would Need.

Read More
First Month Of Pregnancy -What Should You Know About It?

If You Are Pregnant For The First Time, You Would Be Excited For Everything About You, Your Pregnancy, Changes To Your B

Read More