Abstract:
:Cryptorchidism is the most frequent congenital anomaly of the urogenital tract in human males. INSL3 and LGR8/GREAT proteins seem to act as ligand and receptor respectively, and to have a role in gubernaculum development involved in testicular descent. Mutations in the INSL3 gene or LGR8/GREAT were found to be associated with cryptorchidism in humans. In a cohort of 135 ex-cryptorchid patients and 100 controls, mutations were sought in INSL3 and LGR8/GREAT genes by sequencing. Six patients were found with mutations in the INSL3 gene and four patients with LGR8/GREAT mutation (10/135, 7.4%). The 10 patients show different phenotypes, ranging from normozoospermia to complete azoospermia, and from bilateral cryptorchidism to retractile testes. Furthermore, the endocrine function of the testis appeared normal in all subjects. These findings demonstrate that INSL3-LGR8/GREAT mutations are frequently associated with human cryptorchidism, and that the only clinical consequence of alterations of the INSL3-LGR8/GREAT system seems to be failure of the testis to descend normally in the scrotum during embryonic development, without affecting the spermatogenic and endocrine components of the testis itself. The first analysis in humans of INSL3 was then performed using a novel radioimmunoassay kit to measure INSL3 concentrations in serum of adults. The results show that INSL3 circulates in adult men, it is a male-specific hormone, and it is of almost exclusively testicular origin. The role of this hormonal system in adulthood is, however, to date unknown.
journal_name
Reprod Biomed Onlinejournal_title
Reproductive biomedicine onlineauthors
Foresta C,Ferlin Adoi
10.1016/s1472-6483(10)62144-xkeywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
294-8issue
3eissn
1472-6483issn
1472-6491pii
S1472-6483(10)62144-Xjournal_volume
9pub_type
杂志文章abstract::Developmental toxicity caused by exposure to a mixture of environmental pollutants has become a major health concern. Human-made chemicals, including xenoestrogens, pesticides and heavy metals, as well as unhealthy lifestyle behaviours, mainly tobacco smoking, alcohol consumption and medical drug abuse, are major fact...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/j.rbmo.2014.03.002
更新日期:2014-07-01 00:00:00
abstract::This study aimed to investigate how hyperandrogenism affects early folliculogenesis. Hyperandrogenism was induced in prepuberal female BALB/c mice by daily s.c. injection of dehydroepiandrosterone (60 mg/kg body weight in 0.1 ml sesame oil) for 10 consecutive days. Although hyperandrogenism increased the growth rate o...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2010.02.012
更新日期:2010-06-01 00:00:00
abstract::The purpose of this commentary is to draw attention to some unsatisfactory features in the way that meta-analyses are presented in assisted reproduction journals. These features will be illustrated with reference to recently published papers. An appeal will be made for a more fastidious and rigorous approach to this s...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2013.05.019
更新日期:2013-11-01 00:00:00
abstract::GnRH antagonists are used to prevent premature LH surges in assisted reproduction. The pregnancy rates obtained in several studies have been similar to those obtained in the long protocol with gonadotrophin-releasing hormone (GnRH) agonists. However, lower oestrogen serum concentrations have been observed and fewer oo...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(10)60945-5
更新日期:2005-02-01 00:00:00
abstract::For the gamete and embryo donation community, it is well recognized that the implementation of a gamete and embryo donor registry (GEDR) represents a good initiative to ensure the best possible health conditions for donor-conceived individuals. Be they national, institutional or independent, GEDR can play a major role...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2013.10.020
更新日期:2014-03-01 00:00:00
abstract:RESEARCH QUESTION:Do uterine size parameters measured by baseline transvaginal ultrasound predict live birth after single embryo transfer (SET) of a high-quality blastocyst? DESIGN:Retrospective cohort study including women undergoing their first SET between August 2010 and March 2014 at a large university hospital re...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.07.007
更新日期:2020-10-01 00:00:00
abstract::The aim of the present study was to measure free thiols content, Na(+)/K(+)-ATPase and Ca(2+)-ATPase activities in human spermatozoa of asthenozoospermic patients and normospermic donors, and evaluate any influence on kinetic sperm features, as well as correlation with peroxynitrite. In fact, membrane integrity and it...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60435-x
更新日期:2009-01-01 00:00:00
abstract::This study aimed to establish whether patients who receive support counselling by the embryologist as counsellor during assisted reproduction procedures would be better equipped with efficient coping mechanisms than patients who were not counselled. Sixty patients were randomly assigned to either the support counselli...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,随机对照试验
doi:10.1016/s1472-6483(10)61160-1
更新日期:2005-11-01 00:00:00
abstract::The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies r...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2017.01.003
更新日期:2017-04-01 00:00:00
abstract::FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2011.11.017
更新日期:2012-03-01 00:00:00
abstract::Improved laboratory standards and better culture media have made extended culture to blastocyst stage a reality to identify embryos with maximum implantation potential. The strategy of extended culture has become more popular across the world at a time when regulatory bodies have emphasized the need to increase the up...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2015.09.016
更新日期:2016-02-01 00:00:00
abstract::Preimplantation genetic diagnosis (PGD) is usually used to establish a non-affected pregnancy for those couples facing a genetic risk of having an affected child. However, an invasive test is still recommended to all PGD patients due to the risk of misdiagnosis. The discovery of cell-free fetal DNA in maternal plasma ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2009.09.005
更新日期:2009-11-01 00:00:00
abstract::The elucidation of the metabolic requirements of human embryos in vivo or in vitro remains, despite being intensively investigated, a work in progress. The adoption of extended embryo culture to the blastocyst stage during the last decade has entailed new challenges. With the increased attention to culture media formu...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2010.08.003
更新日期:2010-12-01 00:00:00
abstract::This study evaluated the effect of two oxygen concentrations (20 and 5%) on bovine embryo development (kinetics of first cleavage and blastocyst development) during maturation (M) and fertilization (F) and analysed differences in gene expression between cumulus-oocyte complexes (COC) matured at 5 or 20% oxygen and the...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2009.12.006
更新日期:2010-03-01 00:00:00
abstract::Aurora kinases comprise a family of phosphoproteins performing multiple functions in mitosis and meiosis. Because Aurora kinase B (AURKB) expression is altered in aged oocytes and there is only limited information on its function in meiosis, it was decided to study the spatial distribution and co-localization of AURKB...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60169-1
更新日期:2009-09-01 00:00:00
abstract::Cervical mucus may cover the embryo transfer catheter during passage of the cervical canal, interfering with the correct placement of the embryo(s) into the uterine cavity. The effect of removal of cervical mucus prior to embryo transfer in IVF/ intracytoplasmic sperm injection (ICSI) on live birth rate was studied. T...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,随机对照试验
doi:10.1016/s1472-6483(10)60344-6
更新日期:2007-09-01 00:00:00
abstract::Polycystic ovary syndrome (PCOS) is associated with increased risk of impaired glucose tolerance and type 2 diabetes. PCOS has been considered as a major risk factor for the development of diabetes, and screening of women with PCOS for glucose intolerance is suggested. Detection of glucose intolerance in PCOS is best ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(10)61645-8
更新日期:2004-06-01 00:00:00
abstract::Understanding the biology of reproductive organs is essential for the development of assisted reproductive techniques. There is at present no direct evidence for either the concentration and dynamics of intrauterine oxygen tension at the endometrial surface, nor its importance for the receptiveness of the endometrium....
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)61443-5
更新日期:2006-09-01 00:00:00
abstract::Artificial oocyte activation using Ca(2+)ionophores or similar compounds is a widely applied technique in IVF laboratories. This is all the more interesting as most of the agents aiming for intracellular Ca(2+) increase do not result in physiological Ca(2+) oscillations but much rather cause a single Ca(2+) transient....
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2015.12.004
更新日期:2016-03-01 00:00:00
abstract::The uptake of prenatal diagnosis in 436 singleton and 146 twin pregnancies following assisted reproduction was compared with a matched group of spontaneous conceptions. The first and second trimester ultrasound examination included target fetal anatomic evaluation and screening by specific markers described for fetal ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60506-8
更新日期:2004-01-01 00:00:00
abstract::Laparoscopic surgery with the assistance of the da Vinci robotic system has been recently introduced in gynaecology, as this new technology provides three-dimensional vision and easier suture capability. This study reports, for the first time, the case of an uncomplicated full term pregnancy after laparoscopic myomect...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60794-8
更新日期:2007-02-01 00:00:00
abstract::The European Union's Tissues and Cells Directive (2004) establishes an extensive framework of standards for all tissue banks throughout the EU. This article considers how the requirements of the Directive might be expected to achieve the stated goals of promoting the safety of assisted conception treatments and/or fac...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)60954-6
更新日期:2005-08-01 00:00:00
abstract:RESEARCH QUESTION:Are obstetric and perinatal complications associated with morphokinetic parameters of embryo development? DESIGN:This proof-of-concept pilot study included a retrospective analysis of embryo morphokinetic parameters of 85 live births following day 5 single blastocyst transfer. Kinetic variables inclu...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2020.09.030
更新日期:2021-01-01 00:00:00
abstract::This study evaluated whether anti-Müllerian hormone (AMH) was differentially expressed in cumulus (CC) and granulosa (GC) cells from large antral and pre-ovulatory follicles collected from individual follicles in women undergoing in-vitro maturation (IVM) or IVF treatment. Expression studies of AMH, AMH receptor 2, FS...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2010.12.005
更新日期:2011-04-01 00:00:00
abstract::Ejaculated spermatozoa, particularly in infertile men, have been shown to display morphological and biochemical features that are typical of an apoptotic phenotype in somatic cells. Deregulation of apoptosis is known to play roles in a number of disease processes, but roles for apoptosis in ejaculated spermatozoa and ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(10)61892-5
更新日期:2003-10-01 00:00:00
abstract::FSH exists as a family of isohormones exhibiting distinct oligosaccharide structures, and the released FSH isoform mixtures change during the follicular phase of the menstrual cycle. In addition, the pulsatile release of gonadotrophins seems to expose follicles to bursts of more less-acidic FSH isoforms and the follic...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/s1472-6483(10)61826-3
更新日期:2002-11-01 00:00:00
abstract::Endocrine-disrupting chemicals are substances present in the environment that can interfere with normal hormonal balance and thus exert potentially adverse health effects on the human organism. Male reproductive system development and function may be susceptible to the effects of such environmental toxicants. Bispheno...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,评审
doi:10.1016/j.rbmo.2013.02.005
更新日期:2013-05-01 00:00:00
abstract::This study compared the effect on blastocyst development and clinical outcome of coasting in women at increased risk of moderate-severe ovarian hyperstimulation syndrome (OHSS; n=389) with a control group matched for age and basal FSH that did not undergo coasting (n=386) in IVF/intracytoplasmic sperm injection (ICSI)...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/j.rbmo.2014.04.014
更新日期:2014-08-01 00:00:00
abstract::This paper examines the importance of a clinical diagnosis in the management of infertility in the male and discusses the reasons for this statement. The treatment of male infertility is now often carried out solely by gynaecologists. These specialists have frequently had little training in the examination of the male...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章
doi:10.1016/s1472-6483(10)61436-8
更新日期:2006-09-01 00:00:00
abstract::In nature, HCG is secreted by the implanting embryo from peri-implantation and onwards. In contrast, LH is mandatory for steroidogenesis and follicular development during the follicular phase, working in synergy with FSH. Moreover, LH is mandatory for the function of the corpus luteum. Although LH and HCG bind to the ...
journal_title:Reproductive biomedicine online
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.rbmo.2017.05.001
更新日期:2017-08-01 00:00:00