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














  • Estrogen and progesterone receptors in smooth muscle component of deep infiltrating endometriosis.

    abstract:OBJECTIVE:To analyze the expression of estrogen (ER) and progesterone (PR) receptors in the smooth muscle component (SMC) of deep infiltrating endometriosis (DIE). DESIGN:A prospective clinical and pathologic study of 60 cases of DIE. SETTING:University Hospital Department of Gynacology. PATIENT(S):Sixty patients wi...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Noël JC,Chapron C,Bucella D,Buxant F,Peny MO,Fayt I,Borghese B,Anaf V

    更新日期:2010-04-01 00:00:00

  • Reproducibility of computer-aided semen analysis: comparison of five different systems used in a practical workshop.

    abstract:STUDY OBJECTIVES:To assess a single (donor) sample by the use of five computer-assisted semen analysis (CASA) systems. SETTING:British Andrology Society advanced course on computer-assisted semen analysis techniques, September 1992. PARTICIPANTS:Clinical, technical and scientific personnel with mixed experience of CA...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Holt W,Watson P,Curry M,Holt C

    更新日期:1994-12-01 00:00:00

  • Role of temperature in regulation of spermatogenesis and the use of heating as a method for contraception.

    abstract::A large body of research confirms the vulnerable nature of spermatogenesis to relatively small increases in testicular temperature. Other physical properties of electromagnetic and ultrasound waves have additive or synergistic effects to those of heat and allow disruption of spermatogenic processes at minimal tempera...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审


    authors: Kandeel FR,Swerdloff RS

    更新日期:1988-01-01 00:00:00

  • Consistency and objectivity of automated embryo assessments using deep neural networks.

    abstract:OBJECTIVE:To evaluate the consistency and objectivity of deep neural networks in embryo scoring and making disposition decisions for biopsy and cryopreservation in comparison to grading by highly trained embryologists. DESIGN:Prospective double-blind study using retrospective data. SETTING:U.S.-based large academic f...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Bormann CL,Thirumalaraju P,Kanakasabapathy MK,Kandula H,Souter I,Dimitriadis I,Gupta R,Pooniwala R,Shafiee H

    更新日期:2020-04-01 00:00:00

  • Effect of indomethacin on the vascular architecture of preovulatory ovine follicles: possible implication in the luteinized unruptured follicle syndrome.

    abstract::Ovarian follicles sometimes fail to rupture and accumulate large quantities of fluid, yet undergo luteinization and form a steroidogenically competent luteal structure, the luteinized unruptured follicle syndrome. This condition can be mimicked in mammals by administration of indomethacin, an inhibitor of biosynthesis...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Murdoch WJ,Cavender JL

    更新日期:1989-01-01 00:00:00

  • Number of biopsied trophectoderm cells is likely to affect the implantation potential of blastocysts with poor trophectoderm quality.

    abstract:OBJECTIVE:To evaluate whether the developmental potential of the blastocyst is affected by the number of trophectoderm (TE) cells biopsied in preimplantation genetic diagnosis (PGD) cycles. DESIGN:Retrospective study. SETTING:University-affiliated center. PATIENT(S):Women underwent PGD cycles of blastocyst biopsy an...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Zhang S,Luo K,Cheng D,Tan Y,Lu C,He H,Gu Y,Lu G,Gong F,Lin G

    更新日期:2016-05-01 00:00:00

  • Successful pregnancies in women with diffuse uterine leiomyomatosis after hysteroscopic management.

    abstract:OBJECTIVE:To describe the surgical and reproductive outcomes of early diffuse uterine leiomyomatosis with hysteroscopic myomectomy. DESIGN:Retrospective report. SETTING:University hospital. PATIENT(S):Five consecutive women of reproductive age with innumerable small-sized (0.5-3 cm) diffuse uterine myomas with profu...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Yen CF,Lee CL,Wang CJ,Soong YK,Arici A

    更新日期:2007-12-01 00:00:00

  • Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure.

    abstract:OBJECTIVE:To determine the expression profiles of the DAZ gene family in men with and without spermatogenic failure. DESIGN:Prospective case study. SETTING:University-based reproductive clinics and genetics laboratory. PATIENT(S):Thirty-four infertile men presenting with azoospermia. INTERVENTION(S):The mRNA transc...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Kuo PL,Wang ST,Lin YM,Lin YH,Teng YN,Hsu CC

    更新日期:2004-04-01 00:00:00

  • Fibrinolytic factors in endometriotic tissue, endometrium, peritoneal fluid, and plasma from women with endometriosis and in endometrium and peritoneal fluid from healthy women.

    abstract:OBJECTIVE:To determine whether there is a difference in fibrinolytic compounds in endometriotic tissue, endometrium, peritoneal fluid (PF), and plasma from women with endometriosis and in endometrium and PF from healthy women. DESIGN:Prospective study. SETTING:Two university clinics. PATIENT(S):Regularly menstruatin...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Bruse C,Bergqvist A,Carlström K,Fianu-Jonasson A,Lecander I,Astedt B

    更新日期:1998-11-01 00:00:00

  • Ovarian response in three consecutive in vitro fertilization cycles.

    abstract:OBJECTIVE:This study was designed to assess the ovarian response in the same patient in consecutive IVF cycles. DESIGN:Retrospective study. SETTING:Assisted reproductive unit at a university hospital. PATIENT(S):One hundred ninety women who underwent three consecutive cycles of IVF. INTERVENTION(S):All women used a...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Hoveyda F,Engmann L,Steele J,Lopez Bernal A,Barlow DH

    更新日期:2002-04-01 00:00:00

  • Placental expression profiling in preeclampsia: local overproduction of hemoglobin may drive pathological changes.

    abstract:OBJECTIVE:To create a library enriched in cDNAs from preeclamptic placentas to print onto microarrays for placental profiling of preeclampsia (PE) and high risk pregnancies. DESIGN:Prospective study. SETTING:University women's clinic and academic research laboratory. PATIENT(S):Ten patients with PE, 5 with PE and bi...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Centlow M,Carninci P,Nemeth K,Mezey E,Brownstein M,Hansson SR

    更新日期:2008-11-01 00:00:00

  • Effects of prolactin on steroidogenesis by human luteal cells in culture.

    abstract::We have examined the effects of prolactin (PRL) on progesterone (P) and estradiol (E2) synthesis by cells obtained from human corpora lutea of early and midluteal phases. The cells were cultured in the presence or absence of low (200 mIU/l) or high levels (1000 mIU/l) of PRL. Basal P, but not E2 was significantly (P l...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Alila HW,Rogo KO,Gombe S

    更新日期:1987-06-01 00:00:00

  • Robotically assisted laparoscopic microsurgical tubal reanastomosis: a retrospective study.

    abstract:OBJECTIVE:To evaluate the pregnancy and delivery outcome of robot-assisted tubal reanastomosis. DESIGN:Retrospective cohort study. SETTING:University hospital. PATIENT(S):Ninety-seven patients with available follow-up who underwent the reversal of tubal ligation, with a median age of 37 years (range, 24-47 years). ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Caillet M,Vandromme J,Rozenberg S,Paesmans M,Germay O,Degueldre M

    更新日期:2010-10-01 00:00:00

  • Using semen flow cytometry to evaluate association of ploidy status and chromatin condensation of spermatozoa with conventional semen parameters: clinical application in intrauterine insemination.

    abstract:OBJECTIVE:To evaluate the association between the ploidy status and the nuclear chromatin condensation of spermatozoa with conventional semen parameters by using semen flow cytometry (SFC). The prognostic value of SFC on the successful outcome of intrauterine insemination (IUI) was examined. DESIGN:Prospective study. ...

    journal_title:Fertility and sterility

    pub_type: 临床试验,杂志文章


    authors: Lazaros L,Kaponis A,Vartholomatos G,Hatzi E,Botsari S,Plachouras N,Makrydimas G,Zikopoulos K,Sofikitis N,Georgiou I

    更新日期:2011-01-01 00:00:00

  • The effects of a once-a-week steroid contraceptive (R2323) on lipid and carbohydrate metabolism in women during three months of use.

    abstract::Forty-four women were prospectively evaluated with a 3-hour oral glucose tolerance test while they used a new weekly oral contraceptive drug, R2323. The blood tests were carried out before the drug was administered and again 3 months after its use. Both blood glucose and plasma insulin levels were measured. In the 40 ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Spellacy WN,Buhi WC,Dumbaugh VA,Birk SA

    更新日期:1978-09-01 00:00:00

  • Inhibin, activin, and follistatin in reproductive medicine.

    abstract:OBJECTIVE:To review the available information regarding the polypeptide factors inhibin, activin, and follistatin in reproductive physiology. DESIGN:The protein structure, tissue expression, regulation, and effects of these factors are outlined, with an emphasis on the reproductive tissues in both females and males. A...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审


    authors: Halvorson LM,DeCherney AH

    更新日期:1996-03-01 00:00:00

  • Use of augmented reality in laparoscopic gynecology to visualize myomas.

    abstract:OBJECTIVE:To report the use of augmented reality (AR) in gynecology. DESIGN:AR is a surgical guidance technology that enables important hidden surface structures to be visualized in endoscopic images. AR has been used for other organs, but never in gynecology and never with a very mobile organ like the uterus. We have...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Bourdel N,Collins T,Pizarro D,Debize C,Grémeau AS,Bartoli A,Canis M

    更新日期:2017-03-01 00:00:00

  • Improved controlled ovarian hyperstimulation in poor responder in vitro fertilization patients with a microdose follicle-stimulating hormone flare, growth hormone protocol.

    abstract:OBJECTIVE:To assess the efficacy of a novel protocol-microdose GnRH agonist (GnRH-a), FSH, and GH, for the stimulation of IVF patients who were canceled previously on a standard luteal GnRH-a, FSH, GH protocol. DESIGN:Prospective evaluation using the patient's previous IVF stimulation attempt as historic controls. SE...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Schoolcraft W,Schlenker T,Gee M,Stevens J,Wagley L

    更新日期:1997-01-01 00:00:00

  • Timing of oocyte retrieval in cycles with a spontaneous luteinizing hormone surge in a large in vitro fertilization program.

    abstract::Forty-four cycles with a spontaneous luteinizing hormone (LH) surge among 377 in vitro fertilization (IVF) patients were studied for outcome with different timing of oocyte retrieval. Mean number of preovulatory oocytes per retrieval and per transfer was significantly less in these cycles than in controls. Mean number...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Droesch K,Muasher SJ,Kreiner D,Jones GS,Acosta AA,Rosenwaks Z

    更新日期:1988-09-01 00:00:00

  • Oocyte slow freezing using a 0.2-0.3 M sucrose concentration protocol: is it really the time to trash the cryopreservation machine?

    abstract:OBJECTIVE:To update results on outcomes with frozen/thawed oocytes using a differential sucrose concentration during dehydration (0.2 M) and rehydration (0.3 M), combined with a one-step propanediol exposure. DESIGN:Retrospective cohort study. SETTING:Private IVF centers. PATIENT(S):Infertile couples undergoing IVF ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Bianchi V,Lappi M,Bonu MA,Borini A

    更新日期:2012-05-01 00:00:00

  • Laparoscopic metroplasty: reconstructive surgery for unicornuate uterus with noncommunicating, functional uterine horn.

    abstract:OBJECTIVE:To demonstrate laparoscopic surgery for a patient with unicornuate uterus and a large hematometra in the noncommunicating uterine horn. DESIGN:Narrated video featuring the diagnostic tests and surgical management. SETTING:Academic tertiary hospital. PATIENT(S):A 13-year-old woman, gravida 0 with menarche a...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Yen CF,Hsin-Yu Pai A,Lo A,Chueh HY,Huang HY,Lin SL

    更新日期:2020-11-01 00:00:00

  • Adolescent infertility--to treat or not to treat.

    abstract:OBJECTIVE:To present the set of reasons for and against fertility treatment for a very young patient. DESIGN:An expert opinion based on clinical experience. SETTING:An academic-affiliated fertility clinic situated in East Jerusalem. PATIENT(S):A 16-year-old married teenager with 2 years' duration of infertility due ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Haimov-Kochman R,Imbar T,Farchat M,Bdolah Y,Hurwitz A

    更新日期:2008-11-01 00:00:00

  • Pharmacokinetic overview of Ortho Evra/Evra.

    abstract:OBJECTIVE:The pharmacokinetics of norelgestromin, the primary active metabolite of norgestimate, plus ethinyl estradiol (EE), delivered by the once-weekly contraceptive patch (Ortho Evra/Evra), have been studied in eight trials. This overview summarizes the relevant pharmacokinetic data for the contraceptive patch. DE...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审


    authors: Abrams LS,Skee D,Natarajan J,Wong FA

    更新日期:2002-02-01 00:00:00

  • Patient satisfaction and changes in pain scores after ablative laparoscopic surgery for stage III-IV endometriosis and endometriotic cysts.

    abstract:OBJECTIVE:To document the changes in pain scores 3-12 months following ablative laparoscopic surgery. Secondary outcome measures included patient satisfaction scores. DESIGN:A prospective, cohort study. SETTING:A tertiary referral center for the treatment of endometriosis. PATIENT(S):Seventy-three consecutive women ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Jones KD,Sutton C

    更新日期:2003-05-01 00:00:00

  • Effect of human endometrial secretions on the metabolism of human spermatozoa.

    abstract::The interaction between human uterine secretions and human spermatozoa was studied. Secretions were obtained by washing the endometrial surfaces of normal uteri removed at surgery and collecting uterine fluid by incubating Millipore chambers in the uteri of volunteers. A microtechnique was devised for conducting metab...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Trifunac NP,Bernstein GS

    更新日期:1981-01-01 00:00:00

  • Ovarian torsion in a premenopausal woman treated with tamoxifen for breast cancer.

    abstract::Tamoxifen therapy in premenopausal women with breast cancer may be associated with the development of ovarian cysts. In this report, a case of ovarian torsion associated with TAM therapy is described. ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Barbieri RL,Ferracci AL,Droesch JN,Rochelson BL

    更新日期:1993-02-01 00:00:00

  • Elective single blastocyst transfer.

    abstract::This report describes our initial experience with elective single blastocyst transfer in 19 patients who had a mean age of 36.3 +/- 2.4 years. The ongoing pregnancy rate, 53% after the fresh embryo transfer and 68% when thaw cycles are included, suggests that single blastocyst transfer has a place in this relatively o...

    journal_title:Fertility and sterility

    pub_type: 信件


    authors: Milki AA,Hinckley MD,Westphal LM,Behr B

    更新日期:2004-06-01 00:00:00

  • Body mass index, physical activity and fecundability in a North American preconception cohort study.

    abstract:OBJECTIVE:To evaluate the association between adiposity, physical activity (PA), and fecundability. DESIGN:Prospective cohort study. SETTING:Not applicable. PATIENT(S):A total of 2,062 female pregnancy planners from the United States and Canada who were enrolled during the preconception period. INTERVENTION(S):None...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: McKinnon CJ,Hatch EE,Rothman KJ,Mikkelsen EM,Wesselink AK,Hahn KA,Wise LA

    更新日期:2016-08-01 00:00:00

  • Expression of growth differentiation factor-9 and bone morphogenetic protein-15 in oocytes and cumulus granulosa cells of patients with polycystic ovary syndrome.

    abstract:OBJECTIVE:To evaluate the effect of growth differentiation factor-9 (GDF-9) and bone morphogenetic protein-15 (BMP-15) on the development of follicles among patients with polycystic ovary syndrome (PCOS). DESIGN:Case-control study. SETTING:University Hospital. PATIENT(S):Twenty-two oocytes were obtained from 15 pati...

    journal_title:Fertility and sterility

    pub_type: 杂志文章


    authors: Zhao SY,Qiao J,Chen YJ,Liu P,Li J,Yan J

    更新日期:2010-06-01 00:00:00

  • Immunologic challenges of human reproduction: an evolving story.

    abstract::Characterization of the implanting human fetus as an allograft prompted a field of research in reproductive immunology that continues to fascinate and perplex scientists. Paternal- or partner-derived alloantigens are present in the maternal host at multiple times during the reproductive process. They begin with exposu...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审


    authors: Hyde KJ,Schust DJ

    更新日期:2016-09-01 00:00:00