• 제목/요약/키워드: Male Fertility

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Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

  • Yu, Eun Jeong;Kim, Min Jee;Park, Eun A;Hong, Ye Seul;Park, Sun Ok;Park, Sang-Hee;Lee, Yu Bin;Yoon, Tae Ki;Kang, Inn Soo
    • Journal of Genetic Medicine
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    • 제19권1호
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    • pp.14-21
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    • 2022
  • Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Fertility Study of LBD-001 a Recombinant Human Interferon $\gamma$, in Rats

  • Lee, Eun-Bang;Cho, Sung-Ig
    • Biomolecules & Therapeutics
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    • 제4권4호
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    • pp.297-300
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    • 1996
  • LBD-001, a recombinant human interferon $\gamma$ produced by genetically engineered yeast as a host system, was administered intraperitoneally to Sprague-Dawley male rats from premating to mating period at least for 60 days and to female rats from at least for 2 weeks before mating to early gestation period (from day 0 to 7 of gestation) at dose levels of $0.35\times10^6, 0.39\times10^6, and 1.38\times10^6$ I.U./kg/day. In the positive control group, ethynylestradiol ($EE_2$; 40 $\mu\textrm{g}$/kg/day) was subcutaneously administered only to female rats during the early gestation period. Effects of the test agents on reproductive performances of the male or female rats and embryonic development were as followings; (1) No significant changes by the treatment of LBD-001 were observed in general behaviors, body weight, food and water consumption, and necropsy of parent animals. However, significant decreases of body weight, food consumption, and water consumption were observed in ($EE_2$ -treated female rats. (2) Mating performances and fertility of parent animals were not significantly affected by the treatment of LBD-001. In ($EE_2$ -treated females, however, the fertility was completely inhibited. (3) No changes in resorption rate and external abnormality of F1 fetuses were observed by the treatment of LBD-001. The results show that LBD-001 at the dose of $1.38\times10^6$ I.U./kg/day or less does not affect general toxicity and reproductive function of parent animals and embryonic development of F1 fetuses.

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Clinical outcomes of preimplantation genetic testing for aneuploidy in high-risk patients: A retrospective cohort study

  • Jun Woo Kim;So Young Lee;Chang Young Hur;Jin Ho Lim;Choon Keun Park
    • Clinical and Experimental Reproductive Medicine
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    • 제51권1호
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    • pp.75-84
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    • 2024
  • Objective: The purpose of this study was to evaluate the impact of preimplantation genetic testing for aneuploidy (PGT-A) on clinical outcomes among high-risk patients. Methods: This retrospective study involved 1,368 patients and the same number of cycles, including 520 cycles with PGT-A and 848 cycles without PGT-A. The study participants comprised women of advanced maternal age (AMA) and those affected by recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), or severe male factor infertility (SMF). Results: PGT-A was associated with significant improvements in the implantation rate (IR) and the ongoing pregnancy rate/live birth rate (OPR/LBR) per embryo transfer cycle in the AMA (39.3% vs. 16.2% [p<0.001] and 42.0% vs. 21.8% [p<0.001], respectively), RIF (41.7% vs. 22.0% [p<0.001] and 47.0% vs. 28.6% [p<0.001], respectively), and RPL (45.6% vs. 19.5% [p<0.001] and 49.1% vs. 24.2% [p<0.001], respectively) groups, as well as the IR in the SMF group (43.3% vs. 26.5%, p=0.011). Additionally, PGT-A was associated with lower overall incidence rates of early pregnancy loss in the AMA (16.7% vs. 34.3%, p=0.001) and RPL (16.7% vs. 50.0%, p<0.001) groups. However, the OPR/LBR per total cycle across all PGT-A groups did not significantly exceed that for the non-PGT-A groups. Conclusion: PGT-A demonstrated beneficial effects in high-risk patients. However, our findings indicate that these benefits are more pronounced in carefully selected candidates than in the entire high-risk patient population.

Functions of PIWI proteins in spermatogenesis

  • Bak, Chong-Won;Yoon, Tae-Ki;Choi, Young-Sok
    • Clinical and Experimental Reproductive Medicine
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    • 제38권2호
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    • pp.61-67
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    • 2011
  • Recently, a significant understanding of the molecular mechanisms regulating spermatogenesis has been achieved utilizing small RNA molecules (small RNAs), including small interfering RNAs (siRNAs), microRNAs (miRNAs), and Piwi-interacting RNAs (piRNAs) which emerged as important regulators of gene expression at the post-transcriptional or translation level. piRNAs are only present in pachytene spermatocytes and round spermatids, whereas miRNAs are expressed abundantly in male germ cells throughout spermatogenesis. This review is aimed at providing a glimpse of piRNAs and their interacting family proteins such as PIWIL1, PIWIL2, and PIWIL4 in spermatogenesis.

Long Cut Straw Provides Stable the Rates of Survival, Pregnancy and Live Birth for Vitrification of Human Blasotcysts

  • Lee, Jung-Woo;Cha, Jeong-Ho;Shin, Sun-Hee;Kim, Yun-Jeong;Lee, Seul-Ki;Cha, Hye-Jin;Kim, Ji-Hae;Ahn, Ji-Hyun;Kim, Hye-Young;Pak, Kyung-Ah;Yoon, Ji-Sung;Park, Seo-Young;Park, Choon-keun
    • 한국발생생물학회지:발생과생식
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    • 제20권3호
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    • pp.219-225
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    • 2016
  • Most of the commercial devices for vitrification are directly immersed into the warming solution (WS) for increasing of warming rate. However, the previous modified cut standard straw (MCS) which has reported is difficult to immerse into the WS. The aim of this study was to investigate whether the long cut straw (LCS) could be useful as a stable tool for vitrified-warmed human blastocysts. A total of 138 vitrified-warmed cycles were performed between November 2013 and November 2014 (exclusion criteria: women ${\geq}38$ years old, poor responder, surgical retrieval sperm, and severe male factor). The artificial shrinkage was conducted using 29-gauge needles. Ethylene glycol and dimethyl sulfoxide (7.5% and 15% (v/v)) were used as cryoprotectants. Freezing and warming were conducted using the LCS tool. The cap of LCS was removed using the forceps in the liquid nitrogen ($LN_2$) and then directly immersed into the first WS for 1 min at $37^{\circ}C$ (1 M sucrose). Only re-expanded blastocysts were transferred after it was cultured in sequential media for 18-20 h. A total of 294 blastocysts were warmed, and all were recovered (100%). Two hundred eighty-five embryos were survived (96.9%). The vitrified-warmed blastocysts of all patients were transferred without any cancellation. We were able to achieve a reasonable implantation (24.2%), following by clinical pregnancy (36.2%), which then continued to ongoing pregnancy (36.2%), and live birth (31.2%). Using LCS is achieved the acceptable rates of survival, pregnancy and live birth. Therefore, the LCS could be considered as a stable and simple tool for human embryo vitrificaton.

산업국가에서의 제2차 인구변천 (The Second Demographic Transition in Industrialized Countries)

  • 정성호
    • 한국인구학
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    • 제32권1호
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    • pp.139-164
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    • 2009
  • 이 글은 유럽을 중심으로 진행된 제2차 인구변천에 관한 논의를 검토하고, 이러한 논의가 한국 사회의 출산력 변천에 어떤 함의를 지니고 있는가를 제시하고자 한다. 제2차 인구변천에 관한 논의는 기본적으로 산업국가에서 출산력 수준이 대체수준 이하로 감소되고 있는 상황을 설명하기 위한 노력에서 출발하였다. 제1차 인구변천과 달리 제2차 인구변천은 종착점으로 인구의 균형상태를 상정하지는 않는다. 오히려 새로운 변화는 대체수준 이하의 출산력, 결혼이 아닌 다양한 형태의 삶의 양식, 결혼과 출산의 무관계성, 안정된 인구의 부재 등을 가져올 것으로 전망한다. 또한 제2차 인구변천은 이민자의 유입이 없으면 인구가 지속적으로 감소할 것이며, 저출산과 평균수명의 연장의 결과로 인해 제1차 인구변천이론에 의해 예측된 인구보다 고령화될 것으로 전망한다. 제2차 인구변천에 대한 논의는 인구변천을 겪고 있는 유럽 국가들의 인구학적 변화를 밝히는데 중요할 뿐만 아니라 한국 사회의 인구학적 변화를 설명하는데 중요한 근거를 제공할 것으로 기대된다. 한국의 제2차 인구변천에서 두드러지게 나타나고 있는 상황은 저출산이다. 저출산 현상은 다양한 요인들이 유기적으로 연결되어 나타난 것이다. 이 중 결혼율의 감소, 초혼 연령의 상승, 이혼율의 상승, 소자녀 가치관 등 가족형성과 관련된 변수들은 저출산에 직접적으로 영향을 주는 변인으로 볼 수 있다. 이들은 제2차 인구변천 내용에 포함된 인구학적 변수들과 크게 다르지 않다. 다만 이러한 변인들에 영향을 주는 요인들이 유럽 사회와 다르게 작동하고 있는 것으로 보인다. 인구학적 변인 이외에 양성평등의 관념, 노동시장의 불안정성, 자녀 양육 및 교육 비용 등은 한국 사회의 저출산을 이해하는데 상대적으로 설명력이 큰 변인으로 볼 수 있다.

EFFECTS OF SUBCHRONIC PATERNAL EXPOSURE TO CYCLOPHOSPHAMIDE AND ACROLEIN ON MALE FERTILITY AND EARLY EMBRYONIC DEVELOPMENT IN RATS

  • Oran-Kwon;Kwack, Seung-Jun;Shin, Jae-Ho;Kim, Soon-Sun;Sohn, Kyung-Hee;Kim, So-Hee;Lee, Rhee-Da;Kim, Byung-Ho;Park, Chul-Hoon;Ha, Won-Kwang;Park, Kui-Lea
    • 한국독성학회:학술대회논문집
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    • 한국독성학회 2001년도 International Symposium on Signal transduction in Toxicology
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    • pp.138-138
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    • 2001
  • The purpose of the present studies was to investigate the effects of subchronic paternal treatment of cyclophosphamide (CP) and acrolein on male fertility and early embryonic development. Two approaches were pursued. The first was to perform in vivo test for observing the adverse effects of CP and acrolein on the function og male reproductive system and pregnancy outcome.(omitted)

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Estrogen Receptor Alpha Agonist Propyl Pyrazole Triol Causes Alterations of the Morphology and Function of the Mouse Male Reproductive System

  • Lee, Eun-Jung;Cho, Hyun-Wook
    • Animal cells and systems
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    • 제13권2호
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    • pp.205-212
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    • 2009
  • Known as a female hormone, estrogen, performs important functions, and the activities of the hormone are mediated via the estrogen receptor. The principal objective of the present study was to assess the effects of a estrogen receptor agonist in male reproductive organs. In this study, the estrogen receptor alpha agonist, PPT, was injected subcutaneously into adult male mice. The effects of PPT on the murine reproductive system were histologically assessed at 3,5, and 8 weeks after treatment. In the treatment group, reductions were observed in the weight of the body, testis and epididymis. Microscopic examination revealed a reduction in seminiferous tubular diameter in the testis, and epithelial cell height in the epididymis during the experiment. 8 weeks after treatment, spermatogenesis was not detected, nor was the lumen of the seminiferous tubules. In the fertility test, 1 week after PPT injection, the fertilizing ability of males was decreased, and on the 2nd and 3rd weeks, complete infertility was observed. In conclusion, the injection of high concentrations of PPT into adult males induced physiological changes, including infertility, and also induced morphological changes, including a reduction in the height of epithelial cells within the reproductive system.

The gene encoding guanidinoacetate methyltransferase (GAMT) maps to mouse chromosome 10 near the locus of hesitant mutation affecting male fertility

  • Chae, Young-Jin;Chung, Chan-Ee;Kim, Byung-Jin;Lee, Mun-Han;Lee, Hang
    • 한국발생생물학회:학술대회논문집
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    • 한국발생생물학회 1998년도 제4차 학술발표대회 및 정기총회
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    • pp.50-51
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    • 1998
  • guanidinoacetate methyltransferase (GAMT) catalyzes the last step of creatine biosynthesis in mammals. Creatine plays an important role in cellular energy metabolism in variety of tissues including brain and male reproductive tract. Congenital deficiency of the enzyme leads to a neurologic disorder in humans. We used an interspecific backcross DNA panel to map Gamt to the central region of mouse Chromosome (Chr) 10 near the locus of hesitant mutation affecting male fertility. We assigned the human GAMT gene to Chr 19 by PCR analysis of a human/rodent somatic hybrid cell line DNA panel, and further localized the human gene to Chr 19 at band p13.3 by PCR analysis of a human radiation hybrid DNA panel. Human chr 19p13.3 is homologous to the central part of mouse Chr 10 where mouse Gamt is located. Furthermore, this part of mouse Chr 10 contains mutant loci the phenotype of which is similar to the GAMT deficiency in human.

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