Abstract:
OBJECTIVE:To conduct clinical, genetic, and molecular diagnostics of two sisters with typical symptoms of complete androgen insensitivity syndrome. DESIGN:Case report. SETTING:Research laboratory at a university of medical science. PATIENT(S):Two patients with 46,XY karyotype and a female phenotype were diagnosed because of primary amenorrhea. Their sister with 46,XX karyotype, her daughter, and five other family members including their mother also were examined. INTERVENTION(S):Orchiectomy, estrogen substitution therapy. MAIN OUTCOME MEASURE(S):Cancer prophylaxis. RESULT(S):Multiple-temperature single-stranded conformation polymorphism and sequence analyses of the androgen receptor gene (AR) revealed a c.C2812T transition in exon 7 in the two sisters. Their mother and the third sister (46,XX) were carriers of the same mutation. This mutation, which previously had never been reported, resulted in Pro817Leu substitution in the ligand-binding domain of the androgen. Computer simulation of structural changes generated by Pro817Leu substitution revealed appreciable conformational changes in the region responsible for dimerization of the receptor. CONCLUSION(S):The novel c.C2812T transition that might impair dimerization of the receptor is responsible for the clinical symptoms of complete androgen insensitivity syndrome in the affected individuals. Molecular analysis of AR proved to be very useful for genetic counseling of the unaffected sister, who was a carrier of the same mutation.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Turek-Plewa J,Eckersdorf-Mastalerz A,Kaluzewski B,Helszer Z,Trzeciak WHdoi
10.1016/j.fertnstert.2005.11.063subject
Has Abstractpub_date
2006-06-01 00:00:00pages
1822.e1-4issue
6eissn
0015-0282issn
1556-5653pii
S0015-0282(06)00495-Xjournal_volume
85pub_type
杂志文章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::Hypoxia downregulated the concentration of endostatin in the culture media of human endometrial stromal cells but did not affect the messenger (m)RNA expression of collagen XVIII. Both mRNA and protein expression of vascular endothelial growth factor were upregulated in a hypoxic condition. ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.03.032
更新日期:2004-09-01 00:00:00
abstract:OBJECTIVE:To identify the most important factor in predicting ovarian reserve after laparoscopic ovarian cystectomy and to evaluate whether there is any difference in the postoperative decline of ovarian reserve between women with endometrioma and those with other benign ovarian cysts. DESIGN:Prospective cohort study....
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2013.10.043
更新日期:2014-02-01 00:00:00
abstract::We found that there was no significant difference in endometrial responses to vaginal or IM P. But the response was suboptimal in cycles treated with dydrogesterone, suggesting that dydrogesterone treatment is not the preferred progestin for use in artificial cycles. ...
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)56840-x
更新日期:1994-07-01 00:00:00
abstract:OBJECTIVE:To investigate whether the Ala16Val polymorphism in the SOD2 gene, encoding for mitochondrial manganese superoxide dismutase (SOD), is associated with [1] infertility and [2] the pregnancy rate (PR) in IVF cycles. DESIGN:Prospective case-control study. SETTING:Public university and public university hospita...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2010.11.022
更新日期:2011-04-01 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::Varicocelectomy has been found to improve the spermogram in many subfertile men. However, there still remains a sizable group of subfertile men whose counts fail to improve sufficiently following surgery. Clomiphene citrate, which has been shown to improve fertility in idiopathic oligospermia, was similarly tried in m...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)44661-3
更新日期:1980-04-01 00:00:00
abstract:OBJECTIVE:To describe two cases of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) with testicular sperm in men with immotile cilia syndromes. DESIGN:Case report. SETTING:A university-based male infertility clinic and assisted reproduction unit. PATIENT(S):Two couples with male factor infert...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(01)01974-4
更新日期:2001-09-01 00:00:00
abstract::The possible association between employment in horticulture with potential exposure to pesticides and female infertility was examined by identification of women with hospital contact due to infertility and working in horticulture through the Danish Occupational Hospitalization Register. This follow-up study gave a sta...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.04.036
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVE:To investigate the association of AMH and AMHRII polymorphisms with reproductive abilities in a sample of women with idiopathic infertility. DESIGN:Case-control study. SETTING:University Department of Obstetrics and Gynecology, and University Unit of Clinical Genetics. PATIENT(S):76 women with idiopathic s...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2009.05.025
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:To report a case of a gonadotroph adenoma diagnosed after a dramatic increase in estradiol level and ovarian hyperstimulation in response to a gonadotropin-releasing hormone agonist. DESIGN:Case report. SETTING:Outpatient practice and university hospital. PATIENT(S):A 35-year-old woman who presented with i...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(02)04342-x
更新日期:2002-12-01 00:00:00
abstract:OBJECTIVE:To optimize the management of patients with cancer in a single testis and azoospermia. DESIGN:Case report. SETTING:Reproductive biology department. PATIENT(S):Two male patients referred in an emergency context for gamete cryopreservation before castration for cancer in a single testis; the patients were az...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2007.07.1308
更新日期:2008-08-01 00:00:00
abstract::Semen analyses were performed and serum and seminal plasma prolactin (PRL) concentrations were determined in 165 samples from 120 men seen with their wives because of infertility. The mean (+/- standard deviation) serum and seminal plasma PRL concentrations were 6.5 +/- 3.3 and 7.5 +/- 3.1 ng/ml, respectively. The mea...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)59664-2
更新日期:1988-01-01 00:00:00
abstract:OBJECTIVE:To analyze the role of the local renin-angiotensin system (RAS) in the female reproductive system to modulate ovarian steroidogenesis and its relationship with alpha(1)adrenergic receptors. DESIGN:Observational study. SETTING:University laboratory. ANIMAL(S):Adult female Wistar rats treated with doxazosin ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2006.12.021
更新日期:2007-10-01 00:00:00
abstract::A rabbit model was used to examine adhesion formation after ovarian wedge resection with and without reapproximation of the ovarian cortex. A wedge resection was completed on one ovary with a scalpel, and the ovarian cortex was reapproximated using microsurgical technique. In the contralateral ovary, a wedge resection...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1990-04-01 00:00:00
abstract::The relationship between the presence or absence of an ovulation stigma and (1) the fertility status, (2) the incidence of endometriosis, (3) the concentration of progesterone and estradiol in the peritoneal fluid, and (4) the blood levels of luteinizing hormone, follicle-stimulating hormone, progesterone, and estradi...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)47900-8
更新日期:1984-06-01 00:00:00
abstract:OBJECTIVE:To evaluate by serial ultrasound scans how long a Ringer's lactate instillation remains in the peritoneal cavity after laparoscopy. DESIGN:Prospective, randomized, double blind, clinical trial. SETTING:Tertiary care, university hospital. PATIENT(S):Thirty-six patients undergoing diagnostic or minor operati...
journal_title:Fertility and sterility
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.fertnstert.2005.01.111
更新日期:2005-07-01 00:00:00
abstract:OBJECTIVE:To investigate whether testicular cytology by fine needle aspiration (FNA) may be considered a diagnostic parameter in the evaluation of the azoospermic subject. DESIGN:Cytologic smears were obtained using a 23-G needle, stained with May-Grünwald-Giemsa stain and examined under a light Orthoplan microscope (...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)54971-1
更新日期:1992-04-01 00:00:00
abstract::The result of the hormone concentration of one blood sample was used to determine the accuracy of predicting not only the hormone concentrations of a second and third sample drawn 15 minutes apart, but also the mean value of the three samples. Three blood specimens from 73 men involved in two previously reported studi...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)59662-9
更新日期:1988-01-01 00:00:00
abstract::The basal body temperature (BBT) charts in pregnancy cycles of 110 consecutive women who became pregnant by a single heterologous insemination were studied. The occurrence of ovulation was proved by the pregnancies in each case. All of these pregnancy charts showed a biphasic pattern, and most followed one of three st...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)46577-5
更新日期:1982-10-01 00:00:00
abstract::A specially designed rigid salpingoscope has been developed to allow inspection of the tubal mucosa during laparoscopy. The presence and extent of intratubal adhesion formation can be evaluated more accurately by this technique than by either HSG or laparoscopy. In 22 patients with bilateral hydrosalpinges, an intraut...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)60501-0
更新日期:1989-02-01 00:00:00
abstract:OBJECTIVE:To report a case of Klinefelter's syndrome with unilateral absence of vas deferens. DESIGN:Case report. SETTING:Tertiary-care infertility clinic. PATIENT(S):A 28-year-old man with the complaint of infertility. INTERVENTION(S):None. MAIN OUTCOME MEASURE(S):Physical examination, genetic and hormonal evalua...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2010.02.017
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:To clarify the role of ovarian steroids in the development and progression of endometriosis, estrogen receptors (ERs) and progesterone receptors (PRs) were localized by immunohistochemistry, and ER messenger RNA (mRNA) was detected by in situ hybridization in the uterine endometrium and in normal and altered ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(97)81397-0
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:To describe patients who at least once did not reply to correspondence of the center about embryo disposition. DESIGN:Anonymous questionnaire. SETTING:Department of Reproductive Medicine, Ghent University Hospital (Belgium). PATIENT(S):Patients whose embryos were stored for at least 2 years. INTERVENTION(...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2011.02.033
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVES:To test, using the immunobead binding technique, for the presence of antisperm antibodies on epididymal sperm, in epididymal fluid, and in serum of men with congenital absence of the vas deferens. To evaluate the in vitro fertilization (IVF) capacity of human epididymal sperm in the presence of antisperm ant...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)55451-x
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVE:To determine whether the use of GnRH antagonist in cycles converted from ovulation induction-IUI to IVF affects cycle outcome and pregnancy rates. DESIGN:Retrospective cohort study. SETTING:Academic research institution. PATIENT(S):One hundred eighty-two consecutive patients with ovulation induction-IUI to...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2009.01.109
更新日期:2010-02-01 00:00:00
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
doi:10.1016/j.fertnstert.2010.05.012
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:To compare the amount of regulated upon activation, normal T cell expressed and secreted (RANTES) and monocyte chemotactic protein 1 (MCP-1) in follicular fluid (FF) of patients with and without endometriosis and to determine their oocyte fertilization and pregnancy rates. DESIGN:Case-control study. SETTING...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2006.05.043
更新日期:2006-12-01 00:00:00
abstract:OBJECTIVE:To determine the effect of hormone replacement therapy (HRT) on cardiac structure and function and whether these changes are related to changes in blood volume. DESIGN:Open-label pilot study. SETTING:Academic medical center. PATIENT(S):Eighteen healthy postmenopausal women. INTERVENTION(S):We administered...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章
doi:10.1016/s0015-0282(98)00398-7
更新日期:1999-01-01 00:00:00
abstract::Reportedly, gamete intrafallopian transfer and zygote intrafallopian transfer are successful methods in assisted conception. This pilot study describes the experiences and results of a recently developed technique of vaginal transcervical intrafallopian transfer. In a group of 38 women with unexplained infertility, oo...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)53704-2
更新日期:1990-08-01 00:00:00