Abstract：
OBJECTIVE:To determine the genetic cause of primary amenorrhea. DESIGN:Case series. SETTING:Pediatric endocrinology, endocrinology, and gynecology departments of academic hospitals. PATIENT(S):Three adolescents and one young woman 46, XY patients with srd5A2 gene mutations. MAIN OUTCOME MEASURE(S):Genetic analysis of srd5A2. RESULT(S):We report four srd5A2 gene mutations in three adolescents and one young woman with 46,XY primary amenorrhea. All presented clitoromegaly and two presented hypospadias; all had been reared as females. Virilization of the external genitalia was noted in the pubertal period in all four patients. Three were maintained in the female sex of rearing by personal choice, and the fourth switched gender. We identified the homozygous substitutions p.L55Q (exon 1), p.Q56R (exon 1), and p.N193S (exon 4), in patients 1, 2, and 3, respectively. Patient 4 had compound heterozygous mutations, a new c.34delG (exon 1) associated with p.R246W (exon 5). All patients had high plasma T levels (ranges, 16.2-23.2 nmol/L; normal female teenage range, 0.35-2 nmol/L). CONCLUSION(S):Our data clearly demonstrate that 5α-reductase deficiency should be considered in XY adolescents with primary amenorrhea and no breast development associated with virilization at puberty and high plasma T. Positive parental consanguinity should reinforce the diagnostic orientation.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Maimoun L,Philibert P,Bouchard P,Ocal G,Leheup B,Fenichel P,Servant N,Paris F,Sultan Cdoi
10.1016/j.fertnstert.2010.08.007subject
Has Abstractpub_date
2011-02-01 00:00:00pages
804.e1-5issue
2eissn
0015-0282issn
1556-5653pii
S0015-0282(10)02284-3journal_volume
95pub_type
杂志文章abstract：OBJECTIVE:To assess the efficiency of two vitrification protocols to cryopreserve human preantral follicles with the use of a xenografting model. DESIGN:Pilot study. SETTING:Gynecology research unit in a university hospital. PATIENT(S):Ovarian biopsies were obtained from seven women aged 30-41 years. INTERVENTION(S...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2012.07.1109
更新日期：2012-11-01 00:00:00
abstract：OBJECTIVE:To evaluate the effect of melatonin both on the ovaries of pinealectomized female rats through histomorphometric analysis and on steroid receptors, proliferating cell nuclear antigen (PCNA), and vascular endothelial growth factor (VEGF) expression. DESIGN:Experimental study. SETTING:Federal University of Sã...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2010.04.042
更新日期：2011-03-15 00:00:00
abstract：OBJECTIVE:To determine if gonadotropin suppression improves ovarian follicle function or ovulation rates in patients with karyotypically normal spontaneous premature ovarian failure. DESIGN:Prospective, double-blind, placebo-controlled, crossover trial. SETTING:Tertiary care research institution. INTERVENTIONS:Two i...
journal_title：Fertility and sterility
pub_type： 临床试验,杂志文章
doi：10.1016/s0015-0282(16)54775-x
更新日期：1992-01-01 00:00:00
abstract：OBJECTIVE:To demonstrate three approaches to uterine artery occlusion at time of myomectomy as a blood-sparing intraoperative technique. DESIGN:A step-by-step explanation of the procedure with surgical video footage. SETTING:Academic medical center. PATIENT(S):Patients undergoing laparoscopic myomectomy, for whom a ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2019.01.019
更新日期：2019-05-01 00:00:00
abstract：:Chronic and transient hyperprolactinemia have been associated with luteal phase dysfunction in both spontaneously cycling women and those subjected to ovarian hyperstimulation by exogenous gonadotropins. It is the objective of the in vitro and in vivo studies reported herein to examine the possibility that prolactin (...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1987-07-01 00:00:00
abstract：OBJECTIVE:To examine the effect of high doses of gonadotropins on IVF outcome in normal (intermediate) responders. DESIGN:Retrospective analysis of patients undergoing IVF therapy from 1990 to 1994 at our institution. SETTING:Academic tertiary center. PATIENTS:A homogeneous group of women that consisted of intermedi...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)57621-3
更新日期：1995-06-01 00:00:00
abstract：:Turner syndrome (TS), which affects approximately 1 in 2,500 live-born females, is characterized by loss or structural anomalies of an X chromosome. Clinical features vary among patients; multiple organ systems can be affected. Endocrinologists are involved in the management of short stature, delayed puberty, and infe...
journal_title：Fertility and sterility
pub_type： 杂志文章,评审
doi：10.1016/j.fertnstert.2012.07.1104
更新日期：2012-10-01 00:00:00
abstract：:The number of live births from IVM oocytes has been increasing over the past two decades. Data concerning the health of IVM infants are reported by the authors of this Views and Reviews. ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2013.02.044
更新日期：2013-04-01 00:00:00
abstract：OBJECTIVE:To assess the risk of cervical neoplasia associated with the use of ovulation-inducing agents such as clomiphene citrate (CC) DESIGN: Case-cohort study. SETTING:Infertility clinics in Seattle, Washington. PATIENTS:A cohort of 3,837 women evaluated for infertility at some time during 1974-1985. MAIN OUTCOME...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：OBJECTIVE:To assess the direct effects of three endometriosis chemotherapeutic agents (medroxyprogesterone acetate [MPA], danazol, and leuprolide acetate [LA]) on endometrial cell proliferation. DESIGN:Analysis of cell proliferation in vitro. SETTING:Proliferative phase endometrial stromal cells isolated from biopsy ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1992-08-01 00:00:00
abstract：OBJECTIVE:To investigate whether luteal E(2) administration reduces size discrepancies of early antral follicles. DESIGN:Prospective, crossover study. SETTING:ART unit, Clamart, France. PATIENT(S):Sixty women and 120 cycles. INTERVENTION(S):On cycle day 3 (baseline day 3), all women underwent measurements of early ...
journal_title：Fertility and sterility
pub_type： 临床试验,杂志文章
doi：10.1016/s0015-0282(02)04574-0
更新日期：2003-02-01 00:00:00
abstract：OBJECTIVE:To investigate the effect of transforming growth factor (TGF)-beta1 on the extracellular signal-regulated kinase (ERK) and Smad pathway and the role of peroxisome proliferator-activated receptor (PPAR)-gamma in cultured human endometrial stromal cells. DESIGN:Experimental study. SETTING:Infertility center o...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2007.09.010
更新日期：2008-10-01 00:00:00
abstract：OBJECTIVE:To evaluate whether overweight and obesity are related to changes in serum sex hormone concentrations and semen quality. DESIGN:Cross-sectional study. SETTING:Data from five previous population-based environmental studies of semen quality were combined into one database at a university hospital in Denmark. ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2007.07.1292
更新日期：2008-09-01 00:00:00
abstract：OBJECTIVE:To investigate the value of the ultrasonographically determined size of seminiferous tubules and other conventional parameters for predicting sperm retrieval by microdissection testicular sperm extraction (micro-TESE). DESIGN:Clinical retrospective study. SETTING:Two urological clinics. PATIENT(S):Eight hu...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2019.08.061
更新日期：2020-01-01 00:00:00
abstract：:Fifty-one female volunteers used a superactive stimulatory luteinizing hormone-releasing hormone (LH-RH) analog for suppression of ovulation for 3 to 12 months. The potent LH-RH agonist D-Ser(TBU)6-EA10-LH-RH was administered intranasally once daily in a dose of 400 or 600 micrograms. No pregnancies occurred during th...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1982-08-01 00:00:00
abstract：:The purpose of this article is to appraise the literature to ascertain whether the use of bariatric surgery should have a role in the contemporary management of the morbidly obese infertile patient before proceeding with infertility treatment. ...
journal_title：Fertility and sterility
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.fertnstert.2006.07.1499
更新日期：2007-02-01 00:00:00
abstract：:Cervical smears were taken before, and at intervals after, artificial insemination and scored for the ratio of leukocytes to squamous cells. Most women showed a significant rise in this ratio after insemination with whole fresh or frozen/thawed semen, but this was not seen when fresh or frozen sperm-free seminal plasm...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)48442-6
更新日期：1985-03-01 00:00:00
abstract：OBJECTIVE:To investigate the effects of thawing temperature on sperm function after cryopreservation. The technical aspects of sperm cryopreservation have significantly improved over the last few decades. However, a standard protocol designed to optimize sperm motility recovery after thawing has not yet been establishe...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2008.10.021
更新日期：2010-02-01 00:00:00
abstract：OBJECTIVE:To determine the correlation between semen basic parameters and the expression and activity of signaling proteins. DESIGN:In vitro studies with human spermatozoa. SETTING:Academic research institute. PATIENT(S):Thirty-seven men provided semen samples for routine analysis. INTERVENTION(S):None. MAIN OUTCO...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2015.06.039
更新日期：2015-10-01 00:00:00
abstract：OBJECTIVE:To report the successful use of testicular sperm aspiration and intracytoplasmic sperm injection in the presence of an Escherichia coli-infected ejaculate that previously caused repeated embryo degeneration. DESIGN:Case report. SETTING:University medical center. PATIENT(S):A 38-year-old woman who did not c...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(98)00508-1
更新日期：1999-03-01 00:00:00
abstract：:The postoperative time course of healing following tubal microsurgery was examined in the rabbit by transmission electron microscopy (TEM) and scanning electron microscopy (SEM) and was correlated with changes in fertility. Groups of animals were bred or used for morphologic studies on days 1, 2, 3, 4, 7, and 14 after...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)46519-2
更新日期：1982-09-01 00:00:00
abstract：:The cumulative conception rate of 31 infertile women undergoing a second tuboplasty using microsurgery was compared with that 71 women undergoing a single microsurgical tuboplasty. The follow-up period ranged from ranged from 1 to 61/2 years. Five (16%) of the patients in the repeat tuboplasty group conceived; there w...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)45979-0
更新日期：1982-01-01 00:00:00
abstract：:A single human chorionic gonadotropin determination was performed in 786 infertile women during the late luteal phase to determine the frequencies of preclinical abortions and whether the frequency was increased in women with endometriosis. Thirty-seven pregnancies (4.7% of cycles) were identified, of which six were c...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)59705-2
更新日期：1988-02-01 00:00:00
abstract：:Selenium (Se) was measured in the semen of 125 men from couples consulting for infertility. A mean concentration of 71.3 +/- 29.7 ng/ml of semen was found, with a range of 7 to 230 ng/ml. More than 85% of the Se is in the seminal plasma. There was a significant positive correlation between sperm count and semen Se. Sp...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1984-12-01 00:00:00
abstract：OBJECTIVE:To examine the results of a 3-year trial using blastocyst cryopreservation to limit multiple pregnancy and optimize overall pregnancy per cycle. DESIGN:Retrospective clinical evaluation of pregnancy rates after freezing and thawing human blastocysts. SETTING:Tertiary-care academic center. PATIENT(S):Seven ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2004.03.068
更新日期：2004-11-01 00:00:00
abstract：OBJECTIVE:To study the differences in the cleavage time between types of embryo chromosomal abnormalities and elaborate algorithm to exclude aneuploid embryos according to the likelihood to be euploid. DESIGN:Retrospective cohort study. SETTING:University affiliated private center. PATIENT(S):Preimplantational genet...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2016.09.019
更新日期：2017-01-01 00:00:00
abstract：OBJECTIVE:To determine the effect of sperm manipulation before intracytoplasmic sperm injection (ICSI) on fertilization rates. DESIGN:Three methods of sperm manipulation before direct ICSI were compared in two sibling oocyte trials. SETTING:In vitro fertilization unit within a teaching hospital. PATIENTS:Patients un...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)57988-6
更新日期：1995-12-01 00:00:00
abstract：OBJECTIVE:To demonstrate a new approach for performing an ovarian cystectomy via transvaginal natural orifice transluminal endoscopic surgery (vNOTES) as an alternative for a laparoscopic ovarian cystectomy. DESIGN:Stepwise explanation of the technique using original video footage. SETTING:Hospital. PATIENT(S):Fourt...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2017.10.037
更新日期：2018-02-01 00:00:00
abstract：OBJECTIVE:To determine DNA fragmentation and several molecules associated with apoptosis or proliferation in ovaries of patients with diminished ovarian reserve. DESIGN:Cross-sectional analysis. SETTING:Tertiary institutional hospital. PATIENT(S):Patients with benign uterine pathology who had undergone a hysterectom...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2005.12.075
更新日期：2006-07-01 00:00:00
abstract：OBJECTIVE:To assess the role of the variant p.Asn680Ser in the follicle-stimulating hormone receptor (FSHR) gene in determining ovarian response in patients undergoing in vitro fertilization (IVF) treatment. DESIGN:Prospective observational study. SETTING:Tertiary referral center for reproductive medicine. PATIENT(S...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2012.08.037
更新日期：2013-01-01 00:00:00
