Abstract:
PURPOSE:The purpose of this study was to investigate a novel mutation in the luteinizing hormone beta-subunit (LHB) gene in one male patient with hypogonadism due to selective luteinizing hormone (LH) deficiency. METHODS:Sanger sequencing of one 28-year-old man born to consanguineous parents was performed. Treatment with human chorionic gonadotropin (hCG) (2000 IU, twice a week) was initiated for 3 months, followed by 5000 IU weekly to date. RESULTS:We identified a novel c.84G>A[p.W28X] nonsense LHB mutation. The W28X mutation produces a truncated LHB peptide of seven amino acids, which prevents the synthesis of intact LH. After 40 days of treatment with hCG, the patient exhibited a few spermatozoa in the semen. Treated for 6 months, the patient exhibited normal seminal parameters. CONCLUSIONS:We identified a novel mutation in the LHB gene in a male patient with hypogonadism and provided evidence that LHB nonsense mutation can cause selective LH deficiency. We reconfirmed hCG treatment may restore male fertility due to LHB mutation.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Yang X,Ochin H,Shu L,Liu J,Shen J,Liu J,Lin C,Cui Ydoi
10.1007/s10815-018-1133-5subject
Has Abstractpub_date
2018-05-01 00:00:00pages
913-919issue
5eissn
1058-0468issn
1573-7330pii
10.1007/s10815-018-1133-5journal_volume
35pub_type
杂志文章abstract:BACKGROUND:One-cell mouse embryos were used to determine the effects of drop size and number of embryos per drop for optimum development in vitro. METHODS:Embryos were collected from immature C57BL6 female mice superovulated with pregnant mare serum gonadotropin and human chorionic gonadotropin and mated by CD1 males....
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01204051
更新日期:1992-10-01 00:00:00
abstract:PURPOSE:To examine the intra- and inter-individual variability in fatty acid composition of follicular fluid (FF) of 23 patients undergoing assisted reproductive treatment. METHODS:The average coefficient of variation within each patient (CVw) and intra-class correlation coefficient (ICC) values of FF fatty acid compo...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01669-6
更新日期:2020-03-01 00:00:00
abstract:PURPOSE:To compare the results of intracytoplasmic morphologically selected sperm injection (IMSI) between cycles in which the swim-up (SUP) or the density gradient centrifugation (DGC) techniques were used for sperm preparation. METHODS:We evaluated 70 IMSI cycles performed in women with age ≤ 37 years, undergoing IM...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-9989-x
更新日期:2013-06-01 00:00:00
abstract:PURPOSE:This study compared the impact of using the Steiner-Tan pseudo double lumen needle for antral follicle oocyte retrieval to using a conventional non-flushing needle. The Steiner-Tan needle has a much smaller dead space than the needles commonly used for IVM oocyte retrievals. METHODS:This was a retrospective co...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0006-1
更新日期:2013-06-01 00:00:00
abstract:PURPOSE:Cumulus cells (CC) play important roles in oocyte development and cumulus expressed genes can be used as markers for oocyte quality. This study aimed to investigate temporal changes in the expression of cumulus marker genes during oocyte maturation as possible biomarkers of embryo developmental competence in ov...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0998-z
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:Combination of transcriptomic and retrospective clinical data, to assess anti-Mullerian hormone (AMH) functionality at a cumulus cell level and evaluate AMH potential as a suitable marker for IVF outcomes (oocytes retrieved, number of day 3 embryos, gestation outcomes). DESIGN:Raw RNA-sequencing data of cumu...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01802-w
更新日期:2020-07-01 00:00:00
abstract:PURPOSE:The mouse preimplantation embryo development (Ped) gene product, Qa-2, which is the homolog of human HLA-G, influences the rate of preimplantation embryonic development and overall reproductive success. The sex ratio in preimplantation embryos from Ped gene congenic mice was examined in order to determine wheth...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-006-9046-0
更新日期:2006-07-01 00:00:00
abstract:PURPOSE:To investigate interactions on gestational age among two environmental risk factors and four maternal genetic polymorphisms: organic solvents, passive smoking, CYP1A1 rs4646903 (MspI), EPHX1 rs2234922 (His139Arg), GSTT1 and PON2 rs12026 (Ala148Gly). METHODS:A pregnant women cohort was conducted at Beijing Yans...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0256-6
更新日期:2014-07-01 00:00:00
abstract:PURPOSE:The basic semen parameters seem to have a limited predictive value in male fertility. Could other objective sperm analyses be helpful in the choice of the most adapted assisted procreation technique? METHODS:This study concerns 78 infertile couples with insemination failures. For each semen, 21 objective param...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02765835
更新日期:1997-07-01 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 purpose of this study was to evaluate the influences of tropical weather on patients with different ovarian responses in the treatment of assisted reproductive technology. METHODS:Six-hundred fourty-seven women underwent their first treatment cycles were retrospectively analyzed. Patients received embryo t...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-005-4922-6
更新日期:2005-05-01 00:00:00
abstract:BACKGROUND:Obesity is associated with several fertility disorders. This prospective cohort study was designed to evaluate the effect of body mass index (BMI) (kg/m2) on oocyte diameter and treatment. METHODS:Women undergoing in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI) were enrolled in the...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0975-6
更新日期:2017-09-01 00:00:00
abstract:PURPOSE:To compare proteomic profiles of spermatozoa from patients with varicocele and poor sperm quality before and after varicocelectomy. METHODS:This work was designed as a prospective and observational study. The study was based on 20 men with varicocele grade 3 and poor sperm quality undergoing varicocelectomy at...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0209-0
更新日期:2014-06-01 00:00:00
abstract:PURPOSE:Our purpose was to determine if pregnancy rates (PRs) for hMG (human menopausal gonadotropin)-stimulated IVF-ET (in vitro fertilization--embryo transfer) can be increased by estradiol (E2) supplementation from the early proliferative phase to the late secretory phase of the endometrium. METHOD:Eighty-one infer...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1023/a:1009445913156
更新日期:2000-01-01 00:00:00
abstract:PURPOSE:This study was conducted in order to investigate the effects of reactive oxygen species (ROS) levels on the seminal plasma (SP) metabolite milieu and sperm dysfunction. METHODS:Semen specimens of 151 normozoospermic men were analyzed for ROS by chemiluminescence and classified according to seminal ROS levels [...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1350-y
更新日期:2019-02-01 00:00:00
abstract:PURPOSE:This study examined sperm motion parameters as measured by computerized automated semen analysis before and after a Percoll wash and determined if differences in any parameter were correlated with fertility subsequent to intrauterine insemination (IUI). RESULTS:Total motile sperm decreased following the washin...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02214129
更新日期:1995-01-01 00:00:00
abstract:PURPOSE:To compare effectiveness of two different chemical zona thinning techniques. METHOD:We studied 163 patients who had experienced IVF or ICSI failures in two or more cycles. Patients were assigned to one of three groups: zona intact (n=72), partial thinning (n=59), or circumferential thinning (n=73). Before tran...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10815-007-9131-z
更新日期:2007-10-01 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 and discuss the pathophysiology and prevention strategies for ovarian hyperstimulation syndrome (OHSS), which is a condition that may occur in up to 20% of the high risk women submitted to assisted reproductive technology cycles. METHODS:The English language literature on these topics were reviewed t...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,评审
doi:10.1007/s10815-010-9387-6
更新日期:2010-02-01 00:00:00
abstract:PURPOSE:Artificial oocyte activation using calcium ionophores and enhancement of embryonic developmental potential by the granulocyte-macrophage colony-stimulating factor (GM-CSF) have already been reported. In this study, we evaluated the synergistic effect of these two methods on aged human unfertilized oocytes after...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-016-0823-0
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:Intrauterine insemination (IUI) is a method for the treatment of marital infertility involving the intrauterine or fallopian deposition of washed spermatozoa, depending on the amount of inseminated semen. In view of the divergent opinions about the inseminated volume, the objective of this study was to compare ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章
doi:10.1023/a:1016678519490
更新日期:2001-08-01 00:00:00
abstract:PURPOSE:In this study we investigated the need of the support from cumulus cells for germinal-vesicle (GV) oocytes collected from stimulated ovaries to complete their maturation to metaphase II (MII). METHODS:We compared the maturation rate of GV oocytes after coculture with cumulus cells (study group) with their spon...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1020410217220
更新日期:1999-07-01 00:00:00
abstract:PURPOSE:To assesse circulating levels of Anti-Müllerian hormone (AMH) as a predictor of oocyte number and their potential to mature in vitro in both normo-ovulatory (NO) women and in women with Polycystic Ovary Syndrome (PCOS) undergoing in vitro maturation (IVM) treatments. METHODS:We prospectively studied NO women a...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-9996-y
更新日期:2013-06-01 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:to report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. METHODS AND RESULTS:the pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euplo...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-010-9462-z
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:This study was aimed at investigating the diagnostic value of maternal serum C-reactive protein (CRP) in the recognition of chorioamnionitis in patients undergoing fetal reduction. METHODS:Seventy-one gravidas with high-order multifetal pregnancies, including 46 with triplets, 18 with quadruplets, and 7 with q...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章
doi:10.1023/a:1016684605522
更新日期:2001-06-01 00:00:00
abstract:PURPOSE:The purpose of this study is to to compare the efficacy of intravaginal culture (IVC) of embryos in INVOcell™ (INVO Bioscience, MA, USA) to traditional in vitro fertilization (IVF) incubators in a laboratory setting using a mild pre-determined stimulation regimen based solely on anti-mullerian hormone (AMH) and...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10815-016-0661-0
更新日期:2016-04-01 00:00:00
abstract:PURPOSE:Cell-free mRNAs (cfmRNAs) were quantitatively measured in human seminal plasma and its relationship with semen quality was investigated. METHODS:Herein, a prospectively, controlled investigation was performed to study seminal plasma HSPA2 and uPA cfmRNA alterations between 21 asthenozoospermic patients and 16 ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-016-0730-4
更新日期:2016-08-01 00:00:00
abstract:PURPOSE:The IGF signaling cascade exerts important regulatory functions in human ovarian folliculogenesis. The scope of this study was to evaluate the transcription profile of insulin-like growth factor (IGF) genes during human ovarian follicle development and to analyze follicle fluid levels of key IGF proteins. METH...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01432-x
更新日期:2019-05-01 00:00:00
abstract:PURPOSE:An association between the INS VNTR polymorphisms and polycystic ovary syndrome (PCOS) susceptibility has been reported in previous studies, but the results were inconsistent. This study was conducted to explore this association using meta-analysis. METHODS:PubMed, Embase, and China National Knowledge Infrastr...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s10815-014-0211-6
更新日期:2014-06-01 00:00:00