Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility / 亚洲男科学杂志(英文版)

The azoospermia factor (AZF) region is important for spermatogenesis, and deletions within these regions are a common cause of oligozoospermia and azoospermia. Although several studies have reported this cause, the present research, to the best of our knowledge, is the first large-scale study assessing this factor in Japan. In this study, 1030 male patients with infertility who were examined for Y chromosome microdeletion using the polymerase chain reaction-reverse sequence-specific oligonucleotide (PCR-rSSO) method, a newly developed method for Y chromosome microdeletion screening, were included. The study enrolled 250 patients with severe oligospermia and 717 patients with azoospermia. Among the 1030 patients, 4, 4, 10, and 52 had AZFa, AZFb, AZFb+c, and AZFc deletions, respectively. The sperm recovery rate (SRR) of microdissection testicular sperm extraction in patients with AZFc deletions was significantly higher than that in those without AZF deletions (60.0% vs 28.7%, P = 0.04). In patients with gr/gr deletion, SRR was 18.7%, which was lower than that in those without gr/gr deletion, but was not statistically significant. In conclusion, our study showed that the frequency of Y chromosome microdeletion in male patients in Japan was similar to that reported in patients from other countries, and SRR was higher in patients with AZFc deletion.

An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis / 대한생식의학회지

We report the case of a 46-year-old Chinese male patient who visited our clinic complaining of infertility. Semen analysis revealed azoospermia, and azoospermia factor c region partial deletion (b1/b3) was detected using Y chromosome microdeletion analysis. Testicular sperm extraction was performed after genetic counseling. The bilateral ductus deferens and a portion of the epididymis were absent, whereas the remaining epididymis was expanded. Motile intratesticular spermatozoa were successfully extracted from the seminiferous tubule. On histopathology, nearly complete spermatogenesis was confirmed in almost every seminiferous tubule. To our knowledge, this is the first case report of b1/b3 deletion with a congenital bilateral absence of the vas deferens and almost normal spermatogenesis.

Effects of Y Chromosome Microdeletion on the Outcome of in vitro Fertilization / 대한불임학회지

OBJECTIVE: To determine whether the presence of Y-chromosome microdeletion affects the outcome of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) program. METHODS: Fourteen couples with microdeletion in azoospermic factor (AZF)c region who attempted IVF/ICSI or cryopreserved and thawed embryo transfer cycles were enrolled. All of the men showed severe oligoasthenoteratoazoospermia (OATS) or azoospermia. As a control, 12 couples with OATS or azoospermia and having normal Y-chromosome were included. Both groups were divided into two subgroups by sperm source used in ICSI such as those who underwent testicular sperm extraction (TESE) and those used ejaculate sperm. We retrospectively analyzed our database in respect to the IVF outcomes. The outcome measures were mean number of good quality embryos, fertilization rates, implantation rates, beta-hCG positive rates, early pregnancy loss and live birth rates. RESULTS: Mean number of good quality embryos, implantation rates, beta-hCG positive rates, early pregnancy loss rates and live birth rates were not significantly different between Y-chromosome microdeletion and control groups. But, fertilization rates in the Y-chromosome microdeletion group (61.1%) was significantly lower than that of control group (79.8%, p=0.003). Also, the subgroup underwent TESE and having AZFc microdeletion showed significantly lower fertilization rates (52.9%) than the subgroup underwent TESE and having normal Y-chromosome (79.5%, p=0.008). Otherwise, in the subgroups used ejaculate sperm, fertilization rates were showed tendency toward lower in couples having Y-chromosome microdeletion than couples with normal Y-chromosome. (65.5% versus 79.9%, p=0.082). But, there was no significance statistically. CONCLUSIONS: In IVF/ICSI cycles using TESE sperm, presence of Y-chromosome microdeletion may adversely affect to fertilization ability of injected sperm. But, in cases of ejaculate sperm available for ICSI, IVF outcome was not affected by presence of Y-chromosome AZFc microdeletion. However, more larger scaled prospective study was needed to support our results.

A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion / 대한산부인과학회지

46,X,inv(Y)/45,X mosaicism is a extremely rare sex chromosomal disorder. We experienced an unusual mosaic Turner syndrome case in a 29-years old Korean woman with a phenotypic female, primary amenorrhea and immature secondary sexual characteristics. Cytogenetic analysis including GTG banding revealed 46,X,inv(Y)(q11.2q12?)[15]/45,X[35] mosaicism, and X/Y chromosome Fluorescence in situ hybridization (FISH) analysis result was ish (SRY-,DYZ3-)[16]/ ish der(Y)del(Y)(q12)inv(Y)(p11.3q12)(SRY sp, DYZ3-)[4] and its meaning was coexistence of microdeletion and inversion of Y chromosome. To our knowledge, this karyotype may be a very rare variant of Turner syndrome, and we report this case with brief review of related literature.