Abstract：
PURPOSE:Approximately 8% of couples attempting to conceive are infertile and male infertility accounts for approximately 50% of infertility among couples. Up to 25% of males with non-obstructive infertility have chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. These are detected by conventional chromosome and Y-microdeletion analysis. In this study, we reviewed the results of testing performed in the Mayo Clinic Cytogenetics and Molecular Genetics Laboratories and compared our findings with previously published reports. METHODS:This study includes 2,242 chromosome studies from males ≥18 years of age referred for infertility between 1989 and 2000 and 2,749 Y-deletion molecular studies performed between 2002 and 2009. RESULTS:14.3% of infertile males tested by karyotyping had abnormalities identified. These include: (258) 47,XXY and variants consistent with Klinefelter syndrome, (3) combined 47,XXY and balanced autosomal rearrangements, (9) 47,XYY, (9) Y-deletions, (7) 46,XX males, (32) balanced rearrangements, and (1) unbalanced rearrangement. 3.6% of males tested for Y-microdeletion analysis had abnormalities identified, 90% of which included a deletion of the AZFc region. CONCLUSIONS:This study highlights the need of males suffering from non-obstructive infertility to have laboratory genetic testing performed. An abnormal finding can have significant consequences to assisted reproductive techniques and fertility treatment, and provide a firm diagnosis to couples with longstanding infertility.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Hofherr SE,Wiktor AE,Kipp BR,Dawson DB,Van Dyke DLdoi
10.1007/s10815-011-9633-6subject
Has Abstractpub_date
2011-11-01 00:00:00pages
1091-8issue
11eissn
1058-0468issn
1573-7330journal_volume
28pub_type
杂志文章,meta分析abstract：PURPOSE:This clinical study was designed to identify and compare the pregnancy rates of simultaneous program of natural-cycle IVF and cryopreserved-thawed ET (NICE) with those of natural-cycle IVF and cryopreserved-thawed ET. METHODS:All three groups comprised spontaneously ovulating infertile women under the age of 4...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02066425
更新日期：1996-10-01 00:00:00
abstract：PURPOSE:To date, the methods available for isolating spermatogonial stem cells (SSCs) from porcine testicular cells have a low efficiency of cell separating. Therefore, we tried to develop a novel isolation technique with a high-yield cell separating ability to isolate SSCs from porcine testes. METHODS:We confirmed th...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0271-7
更新日期：2014-08-01 00:00:00
abstract：PURPOSE:The aim of this study was to compare the levels of hyperglycosylated human chorionic gonadotropin (hCG-H) secreted from balanced and unbalanced human embryos. METHODS:Single-step culture media samples from 155 good quality embryos, derived from 90 good prognosis patients undergoing intracytoplasmic sperm injec...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01776-9
更新日期：2020-06-01 00:00:00
abstract：PURPOSE:To provide a comprehensive analysis of mtDNA quantity in D5 and D6 blastocysts, as well as a further insight to the origin of delayed blastocyst development. METHODS:A retrospective cohort analysis of 829 D5 and 472 D6 blastocysts from 460 patients who underwent in vitro fertilization (IVF) with next-generatio...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-02045-5
更新日期：2021-01-20 00:00:00
abstract：PURPOSE:To avoid inducing a state of oxidative stress (OS), assisted reproductive technologies (ART) must maintain a balance of reactive oxygen species (ROS) and antioxidants during the in vitro culture of oocytes. However, oocyte requirements and tolerance thresholds for ROS during in vivo development are still unclea...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9925-5
更新日期：2013-03-01 00:00:00
abstract：PURPOSE:The purpose of this study was to examine the biological variability of follicular fluid (FF) high density lipoprotein (HDL) particle components measured in ipsilateral ovarian follicles. METHODS:We collected FF from two ipsilateral follicles among six women undergoing in vitro fertilization (IVF). We measured ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0648-x
更新日期：2016-03-01 00:00:00
abstract：PURPOSE:The study aims to determine whether there is an altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers. METHODS:Metaphase I human spermatocytes from three 45,XY,der(13;14)(q10;q10) individuals and a 45,XY,der(14;15)(q10;q10) individual were analyzed. Proximity ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0809-y
更新日期：2017-01-01 00:00:00
abstract：OBJECTIVE:To investigate the usefulness of preimplantation genetic diagnosis (PGD) based on mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) for a pedigree with X-linked retinitis pigmentosa (XLRP). METHODS:One pathogenic mutation (c.494G > A) of the retinitis pigmentosa GTPase regu...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-019-01434-9
更新日期：2019-05-01 00:00:00
abstract：PURPOSE:The purpose was to demonstrate the leukemia inhibitory factor (LIF) expression in different endometrial locations between fertile and infertile women throughout different menstrual phases. The relationship between progesterone level and LIF expression were evaluated. METHODS:Endometrial biopsies were performed...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1009457016871
更新日期：2000-09-01 00:00:00
abstract：PURPOSE:To compare the in-vitro fertilization (IVF) outcomes of cancer patients who underwent oocyte retrieval and embryo/oocyte cryopreservation prior to gonadotoxic therapy to those of age and time-matched controls with tubal factor infertility. METHODS:All cancer patients who underwent embryo/oocyte cryopreservatio...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0428-z
更新日期：2015-04-01 00:00:00
abstract：PURPOSE:This study was conducted to determine if expression of the testis-specific phospholipase C Zeta1 (PLCZ1) correlated with low success or fertilization failure after ICSI in patients with normal parameters after standard semen analysis (SA). METHODS:Couples <43 years with one or two failed or low fertilization I...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0229-9
更新日期：2014-06-01 00:00:00
abstract：PURPOSE:To study the effect of α-linolenic acid (ALA) on meiotic maturation, mRNA abundance of apoptosis-related (Bax and Bcl-2) molecules, and blastocyst formation in ovine oocytes. METHODS:A preliminary experiment was conducted to analyze the concentration of ALA in "small" (≤2 mm) and "large" (≥6 mm) follicles usin...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0439-9
更新日期：2015-04-01 00:00:00
abstract：PURPOSE:To correlate levels of cholesterol (CH), calcium (Ca2+), and mitochondrial activity (MA) with the standard semen parameters and to compare them between fertile and infertile men. METHODS:We studied 151 semen samples from infertile (n = 60) or fertile (n = 91) males. Basic sperm parameters were analyzed. Ca2+ a...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-004-8761-7
更新日期：2004-12-01 00:00:00
abstract：PURPOSE:This study assessed pregnancy rates and obstetric outcomes in women with premature ovarian failure (Group A) with post-menopausal women > or =40 years (Group B) who had IVF +/- ICSI using donor eggs. METHODS:This was a retrospective analysis of 54 recipients with either premature ovarian failure or physiologic...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-009-9351-5
更新日期：2009-09-01 00:00:00
abstract：PURPOSE:To evaluate the relative cost-effectiveness of recombinant and urinary follicle-stimulating hormone (FSH) in assisted reproduction techniques in the Spanish National Health Service. METHODS:Markov modelling was used to compare costs and outcomes of three complete treatment cycles using recombinant or urinary F...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1024899806149
更新日期：2003-08-01 00:00:00
abstract：PURPOSE:To find an effective method to select embryos from ICSI with better chromosomal status when preimplantation-genetic-diagnosis (PGD) is not applied. METHODS:Several morpholological evaluations were done in same embryos. Embryos from ICSI were classified on day 1 according to pronuclear-nucleoli arrangement. On ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-005-4874-x
更新日期：2005-03-01 00:00:00
abstract：PURPOSE:To review the current literature regarding the role of vitamin D status in pregnancy outcomes in women undergoing assisted reproductive technology (ART) and to assess cost-effectiveness of routine vitamin D deficiency screening and repletion prior to initiation of ART. METHODS:A systematic literature review wa...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-014-0407-9
更新日期：2015-03-01 00:00:00
abstract：OBJECTIVE:This systematic review sought to evaluate the clinical outcomes of vitrification at the cleavage stage and blastocyst stage for embryo transfer in patients undergoing assisted reproductive technology (ART) treatment. METHODS:We searched for related comparative studies published in the PubMed, EMBASE, and Coc...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s10815-017-1040-1
更新日期：2018-01-01 00:00:00
abstract：PURPOSE:Frozen embryo transfer has been established as an indispensable ART procedure for both the effective use of surplus embryos and the prevention of ovarian hyperstimulation syndrome. The frequency of frozen embryo transfer is increasing in our clinic, and we report that frozen embryo transfer is effective for pat...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-008-9275-5
更新日期：2008-11-01 00:00:00
abstract：PURPOSE:Polycystic ovary syndrome (PCOS) is a most common endocrine disorder of reproductive age women. Interleukin-6 is involved in the pathophysiological characteristics associated with polycystic ovary syndrome (PCOS). The-174 G/C IL-6 gene promoter region single nucleotide polymorphism (SNP) may influence or modula...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0111-1
更新日期：2013-12-01 00:00:00
abstract：PURPOSE:To explore the relationships between the soluble receptor for advanced glycation endproducts (sRAGE) and the outcome parameters following in vitro fertilization-embryo transfer (IVF-ET) in patients with polycystic ovary syndrome (PCOS) and investigate the protective effect of sRAGE in PCOS development regarding...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0704-6
更新日期：2016-07-01 00:00:00
abstract：PURPOSE:To evaluate the effect of the individual physician performing embryo transfer, on clinical pregnancy rates. METHOD:Data from a total of 485 consecutive embryo transfers performed on 485 women aged 23-37 years were prospectively collected for this study. All patients underwent a standard downregulation long pro...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-006-9032-6
更新日期：2006-07-01 00:00:00
abstract：PURPOSE:This binational qualitative study of medical egg freezing (MEF) examined women's motivations and experiences, including their perceived needs for patient-centered care in the midst of fertility- and life-threatening diagnoses. METHODS:Forty-five women who had undertaken MEF were interviewed in the USA (33 wome...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-1081-5
更新日期：2018-01-01 00:00:00
abstract：PURPOSE:The number of women attempting to conceive between the ages of 36 and 44 has increased significantly in the last decade. While it is well established that women's reproductive success dramatically declines with age, the underlying physiological changes responsible for this phenomenon are not well understood. Wi...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-011-9588-7
更新日期：2011-09-01 00:00:00
abstract：PURPOSE:The study aimed to investigate key intrafollicular prognostic factors among various cytokines and angiogenic molecules for prediction of mature oocytes and good-quality embryos in women with endometriosis undergoing in vitro fertilization (IVF). METHODS:Paired follicular fluid and serum samples were collected ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0782-5
更新日期：2016-10-01 00:00:00
abstract：PURPOSE:Our purpose was (1) to identify characteristics correlated with pregnancy outcome, (2) to use these characteristics to predict in vitro fertilization (IVF) outcome, and (3) to develop strategies that might improve IVF success. METHODS:Maternal age, cause for IVF, donor insemination, rank of attempt, serum estr...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1022528915761
更新日期：1998-07-01 00:00:00
abstract：:In sex determination of mammalian preimplantation embryos, viability of biopsied embryos and accuracy of sexing are together important. In consideration of this point, single blastomeres were mechanically isolated from mouse embryos using a micromanipulator and then sexed by polymerase chain reaction (PCR) using mouse...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF01207739
更新日期：1993-02-01 00:00:00
abstract：:The use of immature oocytes subjected to in vitro maturation (IVM) opens interesting perspectives for fertility preservation where ovarian reserves are damaged by pathologies or therapies, as in PCO/PCOS and cancer patients. Human oocyte cryopreservation may offer some advantages compared to embryo freezing, such as f...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-017-1005-4
更新日期：2017-11-01 00:00:00
abstract：PURPOSE:In a preimplantation genetic diagnosis for aneuploidy (PGD-A) program, the more embryos available for biopsy, consequently increases the chances of obtaining euploid embryos to transfer. The aim was to increase the number of viable euploid blastocysts in patients undergoing PGD-A using fresh oocytes together wi...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0868-0
更新日期：2017-04-01 00:00:00
abstract：:Benign hydatidiform mole, complete or partial, is the most common type of gestational trophoblastic disease (GTD) characterised by excessive trophoblastic proliferation and abnormal embryonic development. Although most complete hydatidiform moles (CHMs) are diploid androgenetic, a few cases of CHMs are biparental, cha...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-018-1202-9
更新日期：2018-06-01 00:00:00
