Abstract:
OBJECTIVE:To describe a novel mutation in the fumarate hydratase (FH) gene in a family with atypical uterine leiomyomas. DESIGN:Case report and review of the literature. SETTING:Academic community hospital. PATIENT(S):Three sisters who presented as nulligravidas aged 27-30 years with large atypical uterine leiomyomas. INTERVENTION(S):Abdominal myomectomy, robotic myomectomy, hysterectomy, gene sequencing. MAIN OUTCOME MEASURE(S):Identification of a family with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome and a novel mutation in the FH gene. RESULT(S):Two of the three sisters tested positive for a novel FH mutation p.Leu99Glufsx6. The eldest sister was clinically diagnosed with HLRCC. The patients' father also carries the same mutation in the FH gene. The patients and their father are now undergoing yearly screening for renal cancer. CONCLUSION(S):Patients with HLRCC are at risk for developing renal cancer as well as losing their fertility via early hysterectomy. Physicians must be aware of this condition and refer at-risk individuals for genetic testing.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Wheeler KC,Warr DJ,Warsetsky SI,Barmat LIdoi
10.1016/j.fertnstert.2015.09.034subject
Has Abstractpub_date
2016-01-01 00:00:00pages
144-8issue
1eissn
0015-0282issn
1556-5653pii
S0015-0282(15)01962-7journal_volume
105pub_type
杂志文章abstract::Recent observations claimed that growth hormone (GH) administration increased the sensitivity of the ovary to gonadotropin stimulation. These findings prompted us to assess whether ovarian response to human menopausal gonadotropin (hMG) is correlated to GH reserve. Before hMG administration, 25 patients were tested fo...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)53336-6
更新日期:1990-03-01 00:00:00
abstract:OBJECTIVE:To investigate semen quality in infertile men from an urban population over an 18-year period. DESIGN:Retrospective study. SETTING:Andrology clinic at a city university hospital. PATIENTS:A total of 9,327 men were referred to the clinic for infertility investigation. After excluding those with azoospermia,...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2005.05.049
更新日期:2005-12-01 00:00:00
abstract::To further define the role of CO2 laser in infertility surgery, the authors compared the immediate tissue damage and the subsequent healing patterns that followed the randomized use of CO2 laser and electrocautery on opposite sides of the reproductive tracts of 20 mature, female rabbits. Blind histopathologic evaluati...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)59603-4
更新日期:1987-12-01 00:00:00
abstract:OBJECTIVE:To investigate the use of medroxyprogesterone acetate (MPA) to prevent LH surge during controlled ovarian hyperstimulation (COH) and to compare cycle characteristics and pregnancy outcomes in subsequently frozen-thawed ET (FET) cycles. DESIGN:A prospective controlled study. SETTING:Tertiary-care academic me...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2015.03.022
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:To assess perinatal risk of major congenital anomalies in children born after embryo transfer with assisted hatching (AH). DESIGN:Retrospective cohort study. SETTING:Not applicable. PATIENT(S):Cycles registered from 2010 to 2012 and conceived via single-embryo transfer were included for the analysis. Live ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2015.03.029
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:To determine the incidence of ovarian hyperstimulation syndrome (OHSS) in a large series of GnRH antagonist-stimulated cycles and to assess the predictive value of E2 and the number of follicles on the day of hCG administration. DESIGN:Prospective cohort study of women undergoing IVF treatment with a GnRH an...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章
doi:10.1016/j.fertnstert.2005.07.1292
更新日期:2006-01-01 00:00:00
abstract::Standardized, high-quality training in reproductive endocrinology, infertility, and assisted reproductive technologies (REI-ART) faces challenges owing to the high-tech nature of ART and the important country-to-country differences in clinical practice and regulations overseeing training. Moreover, while the training ...
journal_title:Fertility and sterility
pub_type: 杂志文章,评审
doi:10.1016/j.fertnstert.2015.04.031
更新日期:2015-07-01 00:00:00
abstract::This statement explores the implications of reproduction by single individuals, unmarried heterosexual couples, and gay and lesbian couples, and concludes that ethical arguments supporting denial of access to fertility services on the basis of marital status or sexual orientation cannot be justified. This document rep...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2013.08.042
更新日期:2013-12-01 00:00:00
abstract:OBJECTIVE:To analyze the HOXA10 genes in CAUV patients for mutations. Congenital absence of the uterus and vagina (CAUV) is the most extreme female reproductive tract developmental defect known. The HOXA10 gene is expressed in the developing and adult uterus. Female mice with loss-of-function Hoxa10 gene mutations have...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2007.03.033
更新日期:2008-02-01 00:00:00
abstract::Effective contraception and easily available abortion have contributed to the decline of adoptable children. This decline has resulted in a marked increase in the demand for AID. The provider of donor semen must establish minimal semen criteria to meet this demand effectively. During the past 8 years the authors have ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)45923-6
更新日期:1981-12-01 00:00:00
abstract:OBJECTIVE:To compare pregnancy rates after fallopian tubal and uterine transfer of cryopreserved embryos. DESIGN:Prospective randomized trial with assignment to treatment groups by a random number table. SETTING:University of Iowa Hospitals and Clinics, a tertiary care academic institution. PATIENTS:Forty patients w...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0015-0282(16)57429-9
更新日期:1995-03-01 00:00:00
abstract::Appropriate endometrial maturation is of paramount importance to achieve reproductive success. Practical and ethical considerations require that in vitro methods be available to evaluate regulation of human endometrial function. Additionally, tissue complexity requires separation of individual cell populations. This r...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)53160-4
更新日期:1989-12-01 00:00:00
abstract::We studied 68 men with varicoceles to determine preoperative parameters that are associated with improvements in semen analysis after varicocelectomy. Ultrasound-measured venous diameter and reversal of flow were found to correlate with successful outcome. ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2005.12.038
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:To validate recently proposed models of ovarian nongrowing follicle (NGF) decay associated with aging within the context of an independent data set. DESIGN:Prospective investigation. SETTING:Academic medical center. PATIENT(S):Normal appearing ovaries collected from 52 women (age 28-51 years) undergoing oo...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2013.12.008
更新日期:2014-03-01 00:00:00
abstract:OBJECTIVE:To study the in vivo mechanisms of action of ulipristal acetate (UPA) on uterine myomas. DESIGN:Retrospective histologic and immunohistochemical (IHC) study of myomas. SETTING:Academic research unit. PATIENT(S):Among 59 women with symptomatic myomas who underwent myomectomy, 42 were treated preoperatively ...
journal_title:Fertility and sterility
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.fertnstert.2015.04.025
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:To measure skin wrinkles and rigidity in menopausal women of varying race/ethnicity with or without hormone therapy (HT) for up to four years. DESIGN:Randomized, double-blind, placebo-controlled trial. SETTING:Academic medical centers. PATIENT(S):Women (42-58 years of age) within 36 months of last menstrua...
journal_title:Fertility and sterility
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.fertnstert.2016.06.023
更新日期:2016-10-01 00:00:00
abstract::The argon laser offers several theoretical advantages over excision, electrocautery, or CO2 laser therapy for the treatment of peritoneal implants of endometriosis. Therefore, a study of the feasibility of the argon laser for the treatment of endometriosis was performed using five virgin New Zealand White rabbits. Fol...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)46752-x
更新日期:1983-01-01 00:00:00
abstract:OBJECTIVE:To assess the effect of gonadotropin-releasing hormone agonist (GnRH-a) on pituitary suppression, subsequent ovarian response, and results of in vitro fertilization (IVF) treatments in polycystic ovarian syndrome (PCOS) patients. DESIGN:Randomized prospective study. SETTING:In vitro fertilization program an...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)54847-x
更新日期:1992-02-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of a phosphodiesterase type 3 inhibitor in oocyte maturation medium on subsequent embryo development. DESIGN:Animal study. SETTING:University laboratory. ANIMAL(S):CD-1 mice. INTERVENTION(S):Immature oocytes were arrested meiotically in medium containing a specific phosphodiester...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.03.041
更新日期:2009-05-01 00:00:00
abstract::Our meta-analysis analyzed the relationship between levels of reactive oxygen species (ROS) and fertilization rate after in vitro fertilization (IVF), and showed a statistically significant correlation between the ROS levels and the IVF fertilization rate (estimated overall correlation -0.374 [95% CI, -0.520, -0.205])...
journal_title:Fertility and sterility
pub_type: 杂志文章,meta分析
doi:10.1016/j.fertnstert.2004.12.057
更新日期:2005-07-01 00:00:00
abstract:OBJECTIVE:To study whether late spontaneous vacuolization on day 4 is an artefact or an alternate means of blastocele formation and to analyze its impact on pregnancy outcome and live birth. DESIGN:Prospective observational study. SETTING:University teaching hospital. PATIENT(S):A total of 424 patients who fulfilled...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2018.02.131
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:To study the incidence rate and hazard ratios of diabetes and prediabetes between women with PCOS and healthy subjects. DESIGN:Prospective population-based study. SETTING:Not applicable. PATIENT(S):Women with PCOS (n = 178) and eumenorrheic, nonhirsute, healthy women as controls (n = 1,524), all followed f...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2017.09.004
更新日期:2017-12-01 00:00:00
abstract::Eight premenopausal women with cancer had blood drawn for analysis of brain-derived neurotrophic factor (BDNF) and müllerian-inhibiting substance (MIS) before and 3 months after receiving chemotherapy. Unlike MIS, BDNF levels were not reduced after chemotherapy. ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2010.10.033
更新日期:2011-04-01 00:00:00
abstract:OBJECTIVE:To obtain proof-of-concept that locally produced anti-inflammatory steroids suppress ovulation-associated extracellular matrix proteases in human ovarian surface epithelial (OSE) cells. DESIGN:Primary OSE cell cultures treated with interleukin-1alpha (IL-1alpha) (500 pg/mL) as proxy for inflammation, with/wi...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.06.040
更新日期:2009-08-01 00:00:00
abstract:OBJECTIVE:To compare the effects of the aromatase inhibitor letrozole (7.5 mg) and clomiphene citrate (CC; 100 mg) in women undergoing superovulation and IUI. DESIGN:Prospective randomized trial. SETTING:University teaching hospital. PATIENT(S):We studied a total of 238 cycles of superovulation and IUI in women with...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/j.fertnstert.2004.04.070
更新日期:2004-12-01 00:00:00
abstract:OBJECTIVE:To evaluate follicular FSH and LH requirements during suppression of endogenous gonadotropins with the GnRH antagonist Nal-Glu and whether LH-like activity could be supplied by administering subcutaneous hCG. DESIGN:Randomized clinical trial. PARTICIPANTS:Thirty-two normally cycling females in the late foll...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1995-02-01 00:00:00
abstract:OBJECTIVE:To investigate sperm viability, incidence of apoptosis, and intracellular basal and induced reactive oxygen species (ROS) in sperm fractions. DESIGN:Prospective controlled study. SETTING:Center for Reproductive Medicine at a tertiary care hospital. METHOD(S):Liquefied seminal ejaculates (n = 12) prepared b...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.10.068
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:To assess right-left differences in ultrasonographic markers of ovarian morphology and determine the impact on the diagnosis of polycystic ovarian morphology (PCOM). DESIGN:A cross-sectional study of data collected from 2006 to 2018. SETTING:Academic clinical research centers. PATIENT(S):Women with polycys...
journal_title:Fertility and sterility
pub_type: 杂志文章,多中心研究
doi:10.1016/j.fertnstert.2019.06.016
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:To determine a successful method of selecting patients for natural cycle IVF combined with in vitro maturation (IVM) of immature oocytes and to determine treatment efficacy. DESIGN:Retrospective analysis of IVF treatments. SETTING:Hospital IVF clinic. PATIENT(S):Women with infertility according to ovarian ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.01.066
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVE:To assess the single-dose pharmacokinetics of a recombinant human FSH preparation (Gonal-F; Laboratoires Serono, Aubonne, Switzerland), administered by i.v., IM, and SC routes and its pharmacokinetics at steady state after multiple dosing by the SC route. DESIGN:Twelve healthy down-regulated female volunteer...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1994-04-01 00:00:00