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Purpose: Genetic factors associated with the risk of polycystic ovary syndrome (PCOS) remain largely unknown. Here, we conducted an optimal sequence kernel association test (SKAT‐O), an exome‐based rare variant association study, to clarify whether rare variants in specific genes contribute to the development of PCOS. Methods: SKAT‐O was performed using exome data of 44 Japanese patients with PCOS and 301 control women. We analyzed frequencies of rare probably damaging variants in the genome. Results: Rare variants of GSTO2 were more commonly identified in the patient group than in the control group (6/44 vs. 1/301; Bonferroni‐corrected p‐value, 0.028), while the frequencies of variants in other genes were comparable between the two groups. The identified GSTO2 variants were predicted to affect the function, structure, stability, hydrophobicity, and/or the formation of intrinsically disordered regions of the protein. GSTO2 encodes a glutathione transferase that mediates the oxidative stress response and arsenic metabolism. Previously, common variants in GSTO2 and its paralog GSTO1 were associated with the risk of PCOS. Conclusions: The results indicate that there are no genes whose rare variants account for a large fraction of the etiology of PCOS, although rare damaging variants in GSTO2 may constitute a risk factor in some cases. [ABSTRACT FROM AUTHOR]

Purpose: We investigated the clinical results of Japanese men with Y chromosome microdeletions. Methods: This study retrospectively examined 2163 azoospermic or severe oligozoospermic patients. We investigated the frequency of azoospermia factor (AZF) deletions and sperm retrieval rate (SRR) by microTESE in patients with these deletions, then analyzed the ICSI outcomes. Results: Azoospermia factor deletions were found in 201 patients. SRR was significantly higher than that of the control group (74.0% vs 20.4%, P <.001). Thirty‐three couples underwent ICSI using testicular spermatozoa retrieved by microTESE, and eight couples underwent ICSI using ejaculatory spermatozoa. The fertilization rate and clinical pregnancy rate per embryo transfer cycle were significantly higher in the ejaculatory group than that of the testicular group (66.4% vs 43.7%, P <.001, 53.3% vs 24.7%, P =.03, respectively). When compared with the control group, the fertilization rate was significantly lower in the testicular group with AZFc microdeletions (43.7% vs 53.6%, P <.001). Conclusions: Our study highlights that although microTESE in azoospermic men with AZFc microdeletions led to a higher SRR, ICSI outcomes of these men were worse than that of men without AZF deletions, even if testicular spermatozoa were retrieved. [ABSTRACT FROM AUTHOR]

Purpose: In assisted reproductive technology, normal zygotes are bipronuclear (2PN) during fertilization confirmation; however, sometimes, nonpronuclear zygotes (0PN) and monopronuclear zygotes (1PN) are found during routine observations. Methods: To elucidate the clinical usefulness of in vitro‐fertilized embryos, we investigated the rates of clinical pregnancy, live birth, miscarriage, and congenital abnormality after transfer of frozen‐thawed 1PN‐ and 0PN‐derived single blastocysts at Denentoshi Ladies Clinic, Kanagawa, Japan. Results: The rates of pregnancy and live birth for 1PN‐derived blastocysts obtained by conventional in vitro fertilization were 37.5% and 27.1%, respectively, which was not significantly different from those for 2PN‐derived blastocysts; however, the rates for 0PN‐derived blastocysts were significantly lower. The pregnancy and live birth rates for 0PN‐derived embryos obtained by intracytoplasmic sperm injection (ICSI) were 45.7% and 34.8%, respectively, which was not significantly different from those for 2PN‐derived blastocysts; however, the rates for 1PN‐derived blastocysts were significantly lower (4.0% for both) than those for 2PN‐ and 0PN‐derived blastocysts. No congenital abnormalities were found in infants resulting from transfer of 0PN‐ or 1PN‐derived blastocysts. Conclusions: Both 1PN‐ and 0PN‐derived blastocysts can be used for embryo transfer; however, care should be taken in making decisions about 1PN‐derived blastocysts, especially if they are obtained by ICSI. [ABSTRACT FROM AUTHOR]