Recent advances in understanding & managing male infertility

Abstract

Male infertility remains a struggle to definitively diagnose and treat with many men labelled as “idiopathic infertility” and eventually requiring assisted reproductive techniques. Along those lines, research groups are continuing to explore current social and environmental factors, including the obesity epidemic, and their effects on male fertility potential. Novel biomarkers of natural fertility status and azoospermia etiology have additionally seen recent attention with ACRV1 and TEX101/ECM1 assays either currently or soon to be commercially available. Despite these advancements, however, medical treatment options have seen little progress. Though surgical therapies have similarly seen little transformation, groups are exploring the use of testicular sperm for couples with elevated sperm DNA fragmentation and either planned or previously failed IVF/ICSI. Concerted collaborative efforts will be needed as we move forward to better understand the challenges men face when struggling to conceive.

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

“…Much of the stated research progress is mainly due to the utilisation of MPS and other 'omics' technologies, including state-of-the-art bioinformatics approaches. Nonetheless, despite such advances, current treatment options in MI/FI have not made a substantial progress [ 40 , 41 ].…”

“…However, in ~40% of all cases of MI the underlying genetic pathogenesis is unknown, 'idiopathic MI' [ 42 ]. Genetics might play a role but there still needs to be progress in the understanding of the roles of environmental factors, for example, obesity or endocrine disruptors [ 43 ], smoking and air pollution [ 40 ] and epigenetic mechanisms (see further). Another factor which is important to take into account in Western populations is the increasing paternal age and the concurrent increase of de novo germline disease-associated variants [ 44 ].…”

Eight tests for sperm DNA fragmentation and their roles in the clinic

“…Simply stated, the question is “When is it appropriate to ask patients to spend more money to obtain a diagnosis of the status of DNA damage in the sperm as a tool for both the patient and clinician to decide on a course of treatment?”. They have also addressed a second, more difficult, question, although not as thoroughly because the data are just not there, which is, “If we do decide to assay sperm DNA damage, which test(s) would we use?” This problem continues to be debated in the literature with the general conclusion that there is a role for sperm DNA damage assessment but it is limited ( 2 , 3 ). Even though I am not a clinician, I have been privy to enough discussions on this issue with clinical colleagues to know that it is a troubling one.…”

Avaliação genômica da infertilidade masculina idiopática por azoospermia não obstrutiva

“…a medicações, alterações imunológicas, hormonais, psicológicas e fatores genéticos, levando à alteração da espermatogênese (RATO et al, 2012;LEAVER, 2016;BIENIEK et al, 2016).…”