Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.


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.


Fertil Steril


Fertility and sterility


Wheeler KC,Warr DJ,Warsetsky SI,Barmat LI




Has Abstract


2016-01-01 00:00:00














  • The production of vascular endothelial growth factor and metalloproteinase via protease-activated receptor in human endometrial stromal cells.

    abstract:OBJECTIVE:To measure the levels of vascular endothelial growth factor (VEGF) and matrix metalloproteinases (MMPs) induced by thrombin in endometrial stromal cells (ESC). DESIGN:Evaluation of the effects of thrombin, thrombin receptor activator peptide 6 (TRAP-6), and D-phenylalanyl-1-propyl-L arginine chloromethyl ket...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Furukawa Y,Kawano Y,Fukuda J,Matsumoto H,Narahara H

    更新日期:2009-02-01 00:00:00

  • Correlation of ultrasound-measured venous size and reversal of flow with Valsalva with improvement in semen-analysis parameters after varicocelectomy.

    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


    authors: Schiff JD,Li PS,Goldstein M

    更新日期:2006-07-01 00:00:00

  • Vasectomy and vasovasostomy in rhesus monkeys: the effect of circulating antisperm antibodies on fertility.

    abstract::Rhesus monkeys develop agglutinating and complement-dependent antisperm antibodies after vasectomy. In order to study whether these antibodies affect fertility after vasovasostomy, 15 animals were given vasectomies and 6 months later vasovasostomies. Subsequently, each was mated with females of proven fertility. Five ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Alexander NJ

    更新日期:1977-05-01 00:00:00

  • Endometrial preparation for frozen-thawed embryo transfer with or without pretreatment with gonadotropin-releasing hormone agonist.

    abstract:OBJECTIVE:To test the efficacy of endometrial preparation with exogenous steroids, without pretreatment with gonadotropin-releasing hormone (GnRH) agonist, in women with normal ovarian function. DESIGN:Prospective randomized study. SETTING:Private outpatient infertility clinic. PATIENT(S):Two hundred ninety-six wome...

    journal_title:Fertility and sterility

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Dal Prato L,Borini A,Cattoli M,Bonu MA,Sciajno R,Flamigni C

    更新日期:2002-05-01 00:00:00

  • Follicle-stimulating hormone or human menopausal gonadotropin for ovarian stimulation in in vitro fertilization cycles: a meta-analysis.

    abstract:OBJECTIVE:To reanalyze the results of using FSH alone and hMG during IVF treatment, taking into account the different protocols of administration of superactive GnRH agonist analogs. DESIGN:Meta-analysis. SETTING:The London Women's Clinic. PATIENT(S):Women undergoing IVF treatment. INTERVENTION(S):A meta-analysis o...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,meta分析


    authors: Agrawal R,Holmes J,Jacobs HS

    更新日期:2000-02-01 00:00:00

  • Interleukin-8 gene and protein expression are up-regulated by interleukin-1beta in normal human ovarian cells and a granulosa tumor cell line.

    abstract:OBJECTIVE:To evaluate the expression, regulation, and role of interleukin (IL)-8 in human ovary. DESIGN:Prospective study. SETTING:University hospital. PATIENT(S):Sixteen premenopausal women. INTERVENTION:Follicular fluid and granulosa lutein cells (GLCs) were collected during IVF cycles. Ovarian stromal and theca ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Fujii A,Harada T,Yamauchi N,Iwabe T,Nishi Y,Yanase T,Nawata H,Terakawa N

    更新日期:2003-01-01 00:00:00

  • A technique for standardization and quality control of subjective sperm motility assessments in semen analysis.

    abstract:OBJECTIVE:To establish a quality control method to monitor and eventually to standardize the subjective assessment of sperm motility in conventional semen analysis. DESIGN:Quality control study running over 2 years. SETTING:University infertility clinic and andrology laboratory. PATIENT(S):Randomly chosen patients a...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Yeung CH,Cooper TG,Nieschlag E

    更新日期:1997-06-01 00:00:00

  • Triphasic expression of interleukin-1 receptor type I in human endometrium throughout the menstrual cycle of fertile women and women with unexplained infertility.

    abstract:OBJECTIVE:To evaluate expression of interleukin-1 receptor type I in the endometrium of fertile women throughout the menstrual cycle and to investigate whether unexplained infertility may be associated with abnormal expression of IL-1 receptor type I. DESIGN:Retrospective study using immunohistochemical technique, Wes...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Bigonnesse F,Labelle Y,Akoum A

    更新日期:2001-01-01 00:00:00

  • Endometriosis entrapment of the obturator nerve after previous cervical cancer surgery.

    abstract::A 26-year-old patient underwent pelvic lymphadenectomy and trachelectomy because of cervical cancer stage IB. Later she developed symptoms from obturator nerve entrapment. Examinations could not reveal metastatic cancer disease, but endometriosis surrounding the obturator nerve was discovered. Laparoscopic removal of ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Langebrekke A,Qvigstad E

    更新日期:2009-02-01 00:00:00

  • Antioxidants in fertility: impact on male and female reproductive outcomes.

    abstract::A couple may be considered to have fertility problems if they have been trying to conceive for over 1 year with no success. Worldwide, the inability to have children affects 10% to 15% of all couples. Subfertility can be divided into either male or female factor, or both partners can be affected. However, for some cou...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审


    authors: Smits RM,Mackenzie-Proctor R,Fleischer K,Showell MG

    更新日期:2018-09-01 00:00:00

  • Bisphenol A and ovarian steroidogenesis.

    abstract::Bisphenol A is widely used as a component in polycarbonate plastics for food and beverage packaging, epoxy linings for canned foods, and dental sealants, among other applications. Experimental literature demonstrates BPA's affinity for estrogen receptors and downstream effects on estrogen-responsive genes. Additional ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审


    authors: Bloom MS,Mok-Lin E,Fujimoto VY

    更新日期:2016-09-15 00:00:00

  • Poor implantation of cryopreserved reinsemination-fertilized human embryos.

    abstract:OBJECTIVE:To investigate whether a poor rate of implantation after in vitro fertilization (IVF) was due to poor embryonic/endometrial synchrony during the original IVF cycle, we have cryopreserved reinseminated-fertilized embryos for later more synchronous replacement after thawing. The chance of implantation of fresh ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Tucker M,Elsner C,Kort H,Massey J,Mitchell-Leef D,Toledo A

    更新日期:1991-12-01 00:00:00

  • Conservative management of a near-term cervico-isthmic pregnancy, followed by a successful subsequent pregnancy: a case report.

    abstract:OBJECTIVE:To describe a rare case of a cervico-isthmic pregnancy with anterior placenta percreta that was treated at 34 weeks of gestation by removing the placenta and the attached uterine wall in one piece. DESIGN:Case report. SETTING:Tertiary university hospital. PATIENT(S):A 32-year-old woman was diagnosed with a...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Kayem G,Deis S,Estrade S,Haddad B

    更新日期:2008-06-01 00:00:00

  • An intrauterine insemination-ready cryopreservation method compared with sperm recovery after conventional freezing and post-thaw processing.

    abstract:OBJECTIVE:To test a sucrose-glycerol cryoprotectant for IUI-ready sperm preparation. DESIGN:Semen aliquots from normozoospermic donors either were subjected to conventional semen freezing (TES and Tris yolk buffer in 7.4% final glycerol) with post-thaw processing or were preprocessed and frozen in HEPES-buffered human...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Larson JM,McKinney KA,Mixon BA,Burry KA,Wolf DP

    更新日期:1997-07-01 00:00:00

  • Access to fertility treatment by gays, lesbians, and unmarried persons: a committee opinion.

    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


    authors: Ethics Committee of American Society for Reproductive Medicine.

    更新日期:2013-12-01 00:00:00

  • A new in vitro fertilization technique: intravaginal culture.

    abstract::Intravaginal culture (IVC) is a new technique elaborated by the authors for the fertilization and culture of human oocytes. Its principle consists of fertilization and early development of the eggs in a closed, air-free milieu without the addition of CO2. One to five ovocytes are deposited in a tube completely filled ...

    journal_title:Fertility and sterility

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Ranoux C,Aubriot FX,Dubuisson JB,Cardone V,Foulot H,Poirot C,Chevallier O

    更新日期:1988-04-01 00:00:00

  • Introduction: An update on bone metabolism and osteoporosis.

    abstract::Osteoporosis continues to be a major public health challenge in both women and men. There are more than 2 million low-impact fractures in the United States every year, 39% of which occur in men. The mortality rate in the first year after hip fracture is estimated at 20% to 25% in women and is even higher in men. The g...

    journal_title:Fertility and sterility



    authors: Schlaff WD

    更新日期:2019-11-01 00:00:00

  • Immunological aspects of surgically induced experimental endometriosis: variation in response to therapy.

    abstract::Elevated endometrial antibody titers were detected in serum and peritoneal fluid of rabbits with experimentally induced endometriosis. Surgical extirpation of implants or suppression with gonadotropin-releasing hormone agonist resulted in decreased endometrial antibody titers, whereas the antibody titers in untreated ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Homm RJ,Garza DE,Mathur S,Austin M,Baggett B,Williamson HO

    更新日期:1989-07-01 00:00:00

  • Introduction: menopausal hormone therapy: where are we today?

    abstract::In this Views and Reviews section, the authors present the most updated information on menopausal hormone therapy (MHT) and an individualized treatment approach. Care of women through the menopausal transition and post-menopausally requires physicians to integrate multi-organ implications of MHT and understand the ful...

    journal_title:Fertility and sterility



    authors: Cedars MI

    更新日期:2014-04-01 00:00:00

  • Increase in nerve fibers and loss of mast cells in polycystic and postmenopausal ovaries.

    abstract:OBJECTIVE:To quantify nerve fibers and mast cells in human ovaries at different functional stages. DESIGN:Retrospective study. SETTING:Research laboratory of the university. SPECIMEN(S): 8 human ovaries in the follicular (cyclic) phase, 7 polycystic ovaries, and postmenopausal ovaries with (n=5) or without (n=7) hype...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Heider U,Pedal I,Spanel-Borowski K

    更新日期:2001-06-01 00:00:00

  • Diagnostic evaluation of sexual dysfunction in the male partner in the setting of infertility: a committee opinion.

    abstract::It is the responsibility of the clinician to assess for the presence of erectile dysfunction, ejaculatory dysfunction, or diminished libido related to hypoandrogenism among men presenting with a primary complaint of infertility. Referral to a reproductive urologist or other appropriate specialist with requisite expert...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审


    authors: Practice Committee of the American Society for Reproductive Medicine in Collaboration With the Society for Male Reproduction and Urology. Electronic address:,Practice Committee of the American Society for Reproductive Medicine in Collab

    更新日期:2018-10-01 00:00:00

  • Hysterectomy performed within 1 year after tubal sterilization.

    abstract::In the United States, approximately 650,000 women of reproductive age undergo tubal sterilization each year and some of these women later have hysterectomies. Little is known about risk factors for having hysterectomy after tubal sterilization. For examination of this issue, we analyzed data from the Collaborative Rev...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Kendrick JS,Rubin GL,Lee NC,Schulz KF,Peterson HB,Nolan TF

    更新日期:1985-11-01 00:00:00

  • Factors associated with the quality before freezing and after thawing of sperm obtained by microsurgical epididymal aspiration.

    abstract:OBJECTIVE:To identify whether the cause, site of ductal obstruction, and characteristics of fluid aspirates are associated with the cryosurvival and fertility after thawing of sperm obtained during reconstruction of the excurrent ducts with microsurgical epididymal sperm aspiration, vasal sperm aspiration, or both. DE...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Sharma RK,Padron OF,Thomas AJ Jr,Agarwal A

    更新日期:1997-10-01 00:00:00

  • Selection of human spermatozoa according to their relative motility and their interaction with zona-free hamster eggs.

    abstract::Human spermatozoa were separated according to their motility by centrifuging semen on discontinuous Percoll gradients. Fractions of the gradients were examined for sperm motility, velocity, viability, morphology, bacteria, and sperm function using the hamster ova sperm penetration assay. The percentage of motile sperm...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Forster MS,Smith WD,Lee WI,Berger RE,Karp LE,Stenchever MA

    更新日期:1983-11-01 00:00:00

  • Assessing the quality of oocytes derived from in vitro maturation: are we looking under the lamppost?

    abstract::Oocytes are complex cells comprising many cellular systems, each of which is essential for proper oocyte function. Methods to assess the diverse and critical cellular systems in oocytes derived from in vitro maturation are badly needed. ...

    journal_title:Fertility and sterility

    pub_type: 评论,杂志文章,评审


    authors: Trimarchi JR,Keefe DL

    更新日期:2006-04-01 00:00:00

  • Association between sperm autoantibodies and enhanced embryo implantation rates during in vitro fertilization.

    abstract::Previous investigations have demonstrated the propensity of strong IgA-class sperm autoantibodies to impede fertilization. However, because there has not been a general consensus on this issue, the aim of this retrospective analysis was to focus on the effects of different levels of IgA-class antibodies on each stage ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Clarke GN

    更新日期:2006-09-01 00:00:00

  • Anti-annexin V antibodies in patients with early pregnancy loss or implantation failures.

    abstract:OBJECTIVE:To describe the prevalence of annexin V antibodies (aANX) in women with early recurrent pregnancy losses (RPLs) or recurrent IVF-ET failure. DESIGN:Retrospective data analysis. SETTING:Tokai University Hospital, Kanagawa, Japan. PATIENT(S):Two hundred thirty-eight patients with RPLs, 48 patients with recur...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Matsubayashi H,Arai T,Izumi S,Sugi T,McIntyre JA,Makino T

    更新日期:2001-10-01 00:00:00

  • Acupuncture and infertility: we need to stick to good science.

    abstract::The research published to date does not show a definitive positive impact of acupuncture on IVF success rates. However, researchers seem to lack traditional scientific practices when interpreting the data. ...

    journal_title:Fertility and sterility

    pub_type: 评论,杂志文章,评审


    authors: Domar AD

    更新日期:2006-05-01 00:00:00

  • Comparison of pregnancy rates for poor responders using IVF with mild ovarian stimulation versus conventional IVF: a guideline.

    abstract::Mild-stimulation protocols with in vitro fertilization (IVF) generally aim to use less medication than conventional IVF. This guideline evaluates pregnancy and live-birth rates in patients expected to be poor responders using mild ovarian stimulation and natural-cycle protocols vs conventional IVF. ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,实务指引


    authors: Practice Committee of the American Society for Reproductive Medicine. Electronic address:

    更新日期:2018-06-01 00:00:00

  • In vitro fertilization in couples with male factor infertility.

    abstract::The data from 83 consecutive in vitro fertilization-embryo transfer cycles were examined with emphasis on the presence of subfertile male parameters, including abnormal sperm density, motility, morphologic features, or an abnormal result in the sperm penetration assay (zona-free hamster ova penetration). There were 25...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Hirsch I,Gibbons WE,Lipshultz LI,Rossavik KK,Young RL,Poindexter AN,Dodson MG,Findley WE

    更新日期:1986-05-01 00:00:00