How to investigate Obstructive azoospermia genetic diseaases

1-10-19:

Obstructive  Azoospermia:: Azoospermia with normal FSH,LH,TESTO,.norrmal testicular usg

With such report it appearsTop of Form

 to be a case of Obst Azoospermia or vasal aplasia. In such cases vas must be absent clinically, USG of testis was done, Now what should be done when obst azo is clinically diagnosed?? If, clinically vas cannot be palpated (vasal aplasia) - one should try excluding CABV (congenital absence of bilateral vas) – we should  step A) straightaway we have to  refer to  nearby ART centre for further evaluation in such a situation ideally step B) CFTR gene assessment will be prudent and if negative for mutation then step C)  PESA/ICSI may be considered if couple agrees. . step D) If mutation is + then also one can proceed in the same way but ICSI -ET programme but ET(embryo transfer)  should be preceded by PGD. (Though there are some limitations of PGD).


Can there be any genetic/Chromosomal disorders in Primary Testicular failure) .This is a clear message to us that time has come when we should focus on male infertility on elucidating the genetic and chromosomal abnormalities in non obstructive azoospermia and severe oligoasthenozoospermia. The possibility of microdeletions of Y-chromosome. This is a flow chart :-
C) If Fructose +, and FSH normal then needle biopsy without karyotyping—If sperm are retrievable then one can proceed for PESA, ICSI,or Microsurgery(VEA). Only if no sperm could be extracted then one can counsel for DI/ Adoption.

Flow chart Step D) Fructose negative Azoospermia: - ejaculatory duct obstruction has to be confirmed by adopting imaging modalities. One can opt for localizing the site of Obstruction especially by rectal USG (TRUS USG). USG-I:: If seminal vesicles are dilated then TUR by urologist may open the obstructed Ejaculatory Duct. USG-II::  If USG reveals normal size seminal vesicles- then in all probability the degree of obstruction is usually inoperable block- --one can opt for PESA/ICSI in consultation with Andrologists. It is also said that fertilization rates are higher in vases of Obstr. Azoo than NOA – though maternal age is an important factor. Dr. S. K Pal.

·           Obstructive azoospermia (contd) :-Type 1 :Fructose –negative & Azoospermia- Causes are CBAV (vas Aplasia or Ejaculatory  duct Obstruction  a) Is vas palpable- yes- Likely cause is Ejaculatory Duct Obstruction -- Do Trans Rectal US of S. Vesicles & prostate - i)Vesicles are dilated- TUR-procedure -- Obstruction inside Prostate or urethra. Ii) Normal S. Vesicles (vesicles are not dilated-normal)= non-operable fibrous block –opt for PESA/ICSI.

  Vas not palpable: - NonDev of Vas—Gene testing for CFTR mutation:: Test for . Mutation-a) If negative for mutation =then PESA BUT IF positive FOR MAJOR mutation ----THEN Adoption/DI/PESA but followed by PGD

 Obstructive Azoospermia: Needle biopsy: i) sperms are present in FNAC- then PESA-ICSI/ Micro-surgical VEA (vaso-epididymal anastomosis).ii) FNAC- no sperm- opt for adoption/DI.

 EQUIVOCAL- When Clinician is not sure about OA /PTF (Primary Testicular Failure). --> Then proceed as following--> Bilateral 4 quadrant microbiopsy-1) Normal spermatogenesis in all biopsies-Diag is OA- VEA/ICSI. 2) Few sperms in few biopsies then PTF with focal spermatogenesis- TESE-ICSI 3) No sperm in any biopsy- PTF (Primary Testicular Failure with no focal spermatogenesis).- gene testing.-DI / Adoption.,

  Ideally one should seek expert opinion of an andrologist / refer to an recognized art center straightaway.. On the whole Andrologist will guide all of us when nothing matches