Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

Abstract

The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI), either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm (EJAC). The originality of this work resides in the comparisons between the different types of Y-microdeletions (AZFa, AZFb, and AZFc) and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn (NB) outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia (18 performed ICSI with ejaculated sperm) and 92 secretory azoospermia (65 went for TESE with 40 having successful sperm retrieval and performed ICSI). There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB (2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C). Of the 29 EJAC cycles, there was a birth of 8 NB (in AZFc). In TESE and EJAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

Failed sperm retrieval from severely oligospermic or non-obstructive azoospermic patients on oocyte retrieval day: Emergent oocyte cryopreservation is a feasible strategy

“…[5]. All patients had a clinical work-up with physical examination, endocrine profile test (follicle stimulating hormone (FSH), luteinizing hormone (LH) and testosterone) and genetic analysis [6, 7]. Scrotal and transrectal ultrasounds [8] were performed on indication.…”

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia

“… 26 Reports on the presence of Y chromosome microdeletions in infertile men range from 0.23% to 34.5%, regardless of the number of STSs used, this wide range may be attributed to population/ethnic variances, selection criteria of the patients, methodological aspects, and environmental factors. 27 – 29 Our results reported AZF-Y chromosome microdeletion in 15.6%, where 4.7% presented in sY245 and 255 together, 1.6% presented in sY84 and 134 together, and 10% (6/60) presented in DAZ1/2 deletion.…”

Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes

“…AZFa, AZFb or AZFa/b microdeletions are associated with the worst prognosis for sperm retrieval. Although previously sperm retrieval in AZFa and b cases were thought to be deemed to failure [29] , recent studies have reported sperm recovery from a few such cases [30] ; whereas patients with AZFc and AZFb/c microdeletions have a SSR rate of 54.8% and 7.1%, respectively [29] . Moreover, AZFc patients are not necessarily azoospermic, and may be candidates for ICSI using sperm from their ejaculate.…”