Histology and sperm retrieval among men with Y chromosome microdeletions

Abstract

In this review of Y chromosome microdeletions, azoospermia factor (AZF) deletion subtypes, histological features and microTESE sperm retrieval rates are summarized after a systematic literature review. PubMed was searched and papers were identified using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Approximately half of infertile couples have a male factor contributing to their infertility. One of the most common genetic etiologies are Y chromosome microdeletions. Men with Y chromosome microdeletions may have rare sperm available in the ejaculate or undergo surgical sperm retrieval and subsequent intracytoplasmic sperm injection to produce offspring.Azoospermia or severe oligozoospermia are the most common semen analysis findings found in men with Y chromosome microdeletions, associated with impaired spermatogenesis. Men with complete deletions of azoospermia factor a, b, or a combination of any loci have severely impaired spermatogenesis and are nearly always azoospermic with no sperm retrievable from the testis. Deletions of the azoospermia factor c or d often have sperm production and the highest likelihood of a successful sperm retrieval. In men with AZFc deletions, histologically, 46% of men demonstrate Sertoli cell only syndrome on biopsy, whereas 38.2% have maturation arrest and 15.7% have hypospermatogenesis. The microTESE sperm retrieval rates in AZFcdeleted men range from 13-100% based on the 32 studies analyzed, with a mean sperm retrieval rate of 47%.

Different group of non‐obstructive intermittent azoospermias among non‐obstructive azoospermia patients: A ten‐year retrospective cohort study with control group

“…However, the initial diagnosis of the patients in our cohort was NOA. In most patients who had genetic, or other causes besides Klinefelter, the gonadotropin, testosterone and PRL values were almost at the same level as those in our NO‐IA group (Ly et al, 2021; Yuen et al, 2021). In Klinefelter patients, intermittent azoospermia was detected mostly in mosaic types aged 13–24 years.…”

“…Generally, reference was made to patients who initially displayed severe oligospermia or CO associated with genetic factors (Klinefelter, partial deletion, etc.) and in whom azoospermia developed and intermittent ejaculate was detected in their spermatozoa (Ly et al, 2021; Yuen et al, 2021). The difference in these patients compared with our cohort was that they had spermatozoa in their ejaculate when diagnosed with infertility.…”

“…Generally, reference was made to patients who initially displayed severe oligospermia or CO associated with genetic factors (Klinefelter, partial deletion, etc. ) and in whom azoospermia developed and intermittent ejaculate was detected in their spermatozoa (Ly et al, 2021;Yuen et al, 2021).…”

Prediction Models for Successful Sperm Retrieval in Patients with Non-Obstructive Azoospermia Undergoing Microdissection Testicular Sperm Extraction: Is There Any Room for Further Studies?

“…The most frequently deleted locus in infertile men is AZFc (60–70%), followed by AZFa (0.5–4%), AZFb (1–5%) and AZFb+c (1–3%) deletion [ 10 ]. Men with complete AZFa and AZFb deletions are azoospermic, and sperm cannot be surgically retrieved [ 11 ]. A study reported that 3 out of 15 patients with AZFb deletions had sperm on mTESE [ 12 ]; however, the Authors defined the AZFb deletions using sY127 and sY134 marker, while classically, the AZFb locus is proximally defined by sY108 and distally characterized by sY134 or sY135; therefore, a partial AZFb deletion could not be excluded in such cases.…”

“…A study reported that 3 out of 15 patients with AZFb deletions had sperm on mTESE [ 12 ]; however, the Authors defined the AZFb deletions using sY127 and sY134 marker, while classically, the AZFb locus is proximally defined by sY108 and distally characterized by sY134 or sY135; therefore, a partial AZFb deletion could not be excluded in such cases. Men with complete AZFc deletions may have sperm in the ejaculate or be azoospermic, but with good chances of SSR: a recent review reporting the results of 32 studies found that sperm could be retrieved in 13 to 100% of cases, particularly when mTESE was used [ 11 ]. Thus, AZFc deletion may confer better chances of SSR to patients with NOA.…”