Abstract：
BACKGROUND:To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. METHODS:Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. Genomic DNA from peripheral blood of the patients using QIAamp DNA Blood Kits was extracted. The three discrete regions, AZFa, AZFb and AZFc, located on the long arm of the Y chromosome, were performed by multiplex PCRs(Polymerase Chain Reaction) amplification. The set of PCR primers for the diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY. RESULTS:Our five patients had a lower body height. Physical examination revealed that their testes were small in volume, soft in texture and normal penis. Semen analyses showed azoospermia. All patients had a higher follicle-stimulating hormone(FSH), Luteinizing Hormone(LH) level, lower free testosterone, testosterone level and normal Estradiol, Prolactin level. Karyotype analysis of all patients confirmed 46, XX karyotype, and FISH analysis showed that SRY gene were positive and translocated to Xp. Molecular analysis revealed that the SRY gene were present, and the AZFa, AZFb and AZFc region were absent. CONCLUSIONS:This study adds cases on the five new 46, XX male individuals with SRY-positive and further verifies the view that the presence of SRY gene and the absence of major regions in Y chromosome should lead to the expectance of a completely masculinised phenotype, abnormal hormone levels and infertility.
journal_name
BMC Uroljournal_title
BMC urologyauthors
Wu QY,Li N,Li WW,Li TF,Zhang C,Cui YX,Xia XY,Zhai JSdoi
10.1186/1471-2490-14-70subject
Has Abstractpub_date
2014-08-28 00:00:00pages
70issn
1471-2490pii
1471-2490-14-70journal_volume
14pub_type
杂志文章相关文献
BMC Urology文献大全abstract：BACKGROUND:Retzius-sparing robot-assisted laparoscopic radical prostatectomy (rsRARP) allows entire prostatectomy procedure via the pouch of Douglas. In low- and intermediate-risk prostate cancer (PCa) there is level 1 evidence that the Retzius-sparing approach impacts early continence recovery. Since specific data on ...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-019-0550-9
更新日期：2019-11-12 00:00:00
abstract：BACKGROUND:The diagnostic pathway for prostate cancer (PCa) is advancing towards an imaging-driven approach. Multiparametric magnetic resonance imaging, although increasingly used, has not shown sufficient accuracy to replace biopsy for now. The introduction of new ultrasound (US) modalities, such as quantitative contr...
journal_title：BMC urology
pub_type： 临床试验,杂志文章
doi：10.1186/s12894-018-0409-5
更新日期：2018-11-08 00:00:00
abstract：BACKGROUND:Previous studies have suggested a greater benefit for various outcomes in men diagnosed with benign prostatic hyperplasia (BPH) who are treated with dutasteride than for men treated with finasteride. This study investigates whether the rates of BPH-related prostate surgery and acute urinary retention (AUR) d...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-016-0170-6
更新日期：2016-08-31 00:00:00
abstract：BACKGROUND:To assess the prognostic value of the extent of positive surgical margins (PSM) following radical prostatectomy (RP) on biochemical recurrence (BR) with long-term follow-up. METHODS:This retrospective study analyzed 1275 RPs performed between January 1992 and December 2013 in two university centers in Marse...
journal_title：BMC urology
pub_type： 杂志文章,多中心研究
doi：10.1186/s12894-019-0470-8
更新日期：2019-05-15 00:00:00
abstract：BACKGROUND:Previous studies report association of contraceptives with moderate increase in urinary tract infection among sexually active premenopausal women. The aim of our study was to find out whether the use of hormonal contraceptives has any effect on microbiota of the vagina in the contraceptives users in Khairpur...
journal_title：BMC urology
pub_type： 杂志文章,随机对照试验
doi：10.1186/1471-2490-12-22
更新日期：2012-08-18 00:00:00
abstract：BACKGROUND:More and more frequently stress urinary incontinence affects young healthy women. Hence, early implementation of effective preventive strategies in nulliparous continent women is essential, including pelvic floor muscle training. An initial evaluation based on the bioelectrical activity of the pelvic floor m...
journal_title：BMC urology
pub_type： 杂志文章,随机对照试验
doi：10.1186/s12894-015-0103-9
更新日期：2015-10-24 00:00:00
abstract：BACKGROUND:Kidney cancer is a lethal neoplasm that affects several thousands of people every year. Renal cell carcinoma (RCC) is the most common histologic type. Recent developments in the therapeutic approach include antiangiogenic targeted approaches and Immunotherapy. Thus, the therapeutic algorithm of RCC patients ...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-020-00618-1
更新日期：2020-06-02 00:00:00
abstract：BACKGROUND:To establish and internally validate an innovative R.I.R.S. scoring system that allows urologists to preoperatively estimate the stone-free rate (SFR) after retrograde intrarenal surgery (RIRS). METHODS:This study included 382 eligible samples from a total 573 patients who underwent RIRS from January 2014 t...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-017-0297-0
更新日期：2017-11-21 00:00:00
abstract：BACKGROUND:Obstetric fistula although virtually eliminated in high income countries, still remains a prevalent and debilitating condition in many parts of the developing world. It occurs in areas where access to care at childbirth is limited, or of poor quality and where few hospitals offer the necessary corrective sur...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/1471-2490-11-23
更新日期：2011-12-07 00:00:00
abstract：BACKGROUND:The purpose of this study was to explore the budget impact of dutasteride plus tamsulosin fixed-dose combination (DUT + TAM FDC) versus tamsulosin monotherapy, in the treatment of patients with benign prostatic hyperplasia (BPH) from the perspective of the Greek healthcare insurance system. METHODS:A Micros...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/1471-2490-14-78
更新日期：2014-09-26 00:00:00
abstract：BACKGROUND:This study was to explore the possibility that foot stimulation increased bladder capacity(BC) in rats with neurogenic bladder secondary to T10 spinal cord injuries. METHODS:In 20 awake rats (stimulation group) with T10 spinal cord injuries, 5 repeat cystometrograms (CMGs) were recorded. The 1st and 2nd CMG...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-017-0277-4
更新日期：2017-09-15 00:00:00
abstract：BACKGROUND:Reduced clinical exposure to urology at the undergraduate or internship level is the main explanation for the marked decrease in applicants to urology residencies. This manuscript was to access the application rate for urology specialty compared with that of other specialties and to investigate the relations...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-018-0375-y
更新日期：2018-07-24 00:00:00
abstract：BACKGROUND:Stauffer Syndrome (SS) is a paraneoplastic disorder associated with renal cell carcinoma (RCC). First described by Herbert Maurice Stauffer in 1961, it is characterized by hepatic dysfunction in the absence of metastasis, and elevated alkaline phosphatase, aminotransferases and prolonged prothrombin time. In...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-020-00671-w
更新日期：2020-07-20 00:00:00
abstract：BACKGROUND:Vasitis or inflammation of the vas deferens is a rare condition, and few case reports with computed tomography images have been published since 1980. CASE PRESENTATION:A 50-year-old man presented with severe right inguinal and lower abdominal pain. Initial diagnosis at the emergency department was incarcera...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-019-0460-x
更新日期：2019-04-29 00:00:00
abstract：BACKGROUND:This study describes and compares health-related quality of life (HRQOL) of prostate cancer patients who received either radical prostatectomy (nerve-sparing, nsRP, or non-nerve-sparing, nnsRP) or radiotherapy (external RT, brachytherapy, or both combined) for treatment of localised prostate cancer. METHODS...
journal_title：BMC urology
pub_type： 杂志文章,多中心研究
doi：10.1186/s12894-015-0025-6
更新日期：2015-04-10 00:00:00
abstract：BACKGROUND:Urologists frequently encounter malignant ureteral obstruction (MUO) caused by advanced urological or non-urological malignant disease, but the treatment policy is unclear. The present study examined the risk factors for predicting ureteral stent failure in patients with MUO after ureteral stent insertion an...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-018-0346-3
更新日期：2018-05-08 00:00:00
abstract：BACKGROUND:Schwannomas are tumours arising from Schwann cells, which sheath the peripheral nerves. Here, we report a rare case of left intrascrotal, extratesticular schwannoma. Although rare, scrotal localisation of schwannomas has been reported in male children, adult men, and elderly men. They are usually asymptomati...
journal_title：BMC urology
pub_type： 杂志文章,评审
doi：10.1186/1471-2490-14-32
更新日期：2014-04-28 00:00:00
abstract：BACKGROUND:We describe a detailed novel step-by-step approach for creation of an ileal neobladder and compare the outcomes with standart neobladder. METHODS:Between August 2009 and January 2016, 36 consecutive patients with bladder cancer underwent radical cystectomy and orthotopic urinary diversion with an ileal neob...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-018-0406-8
更新日期：2018-10-26 00:00:00
abstract：BACKGROUND:To assess whether application of a hyaluronic acid-carboxymethyl cellulose membrane (HA/CMC) to the prostate bed and neurovascular plate facilitated early return of continence after nerve-sparing robot-assisted radical prostatectomy (RARP). METHODS:The subjects were 183 consecutive patients with organ-confi...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-019-0458-4
更新日期：2019-04-23 00:00:00
abstract：BACKGROUND:To investigate the factor structure, dimensionality and construct validity of the (5-item) PRAFAB questionnaire score in women with stress urinary incontinence (stress UI). METHODS:A cross validation study design was used in a cohort of 279 patients who were randomly divided into Sample A or B. Sample A was...
journal_title：BMC urology
pub_type： 杂志文章,随机对照试验
doi：10.1186/1471-2490-8-1
更新日期：2008-01-24 00:00:00
abstract：BACKGROUND:C-C chemokine receptor type 7 (CCR7) overexpression correlated with lymphatic metastasis and poor prognosis is a major obstacle to bladder cancer treatment. Recent studies have revealed that miR-199a-5p was significantly abnormal expressed in several solid tumors and functioned as oncogene or tumor suppresso...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-016-0181-3
更新日期：2016-11-04 00:00:00
abstract：BACKGROUND:The use of ureteral access sheath (UAS) during ureteroscopy is controversial. We aimed to explore practice patterns of UAS during ureteroscopy for nephrolithiasis among endourologists worldwide. METHODS:A 15-question survey was designed using the SurveyMonkey® platform. The questions covered the background ...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-019-0489-x
更新日期：2019-07-04 00:00:00
abstract：BACKGROUND:Sacral neuromodulation operations have usually been performed based on 2D fluoro images. However, sacral nerve stimulation lead implantation may be challenging when the normal anatomy is confused by obesity or congenital anomalies. Thus the surgical navigation and intraoperative imaging methods could be help...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/1471-2490-13-48
更新日期：2013-10-16 00:00:00
abstract：BACKGROUND:Fesoterodine is an antimuscarinic for the treatment of overactive bladder, a syndrome of urgency, with or without urgency urinary incontinence (UUI), usually with increased daytime frequency and nocturia. Our objective was to develop predictive models to describe the dose response of fesoterodine. METHODS:D...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/1471-2490-10-14
更新日期：2010-08-19 00:00:00
abstract：BACKGROUND:Urethral injury produces partial or complete disruption of the urethral integrity. Advances in endourology have made endoscopic management of most of these injuries feasible without greatly compromising the final result. We report our institutional experience of immediate endoscopic realignment of complete i...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/1471-2490-5-13
更新日期：2005-11-09 00:00:00
abstract：BACKGROUND:To assess factors that can predict active surveillance (AS) failure on serial transrectal ultrasound guided biopsies in patients with low-risk prostate cancer. METHODS:We evaluated the records of 144 consecutive patients enrolled in AS between 2007 and 2014 at a single academic institution. Low risk inclusi...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-019-0452-x
更新日期：2019-04-23 00:00:00
abstract：BACKGROUND:Over the last few years the number of flexible ureterorenoscopies, used for renal stone treatment, has risen steadily. This was associated with an increase in costs for maintenance and repair of the fragile ureterorenoscopes used. To overcome this problem single-use devices have been introduced to the market...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-020-00624-3
更新日期：2020-05-18 00:00:00
abstract：BACKGROUND:Osteoporosis is a common consequence of androgen deprivation therapy (ADT) for prostate cancer. Up to 20 % of men on ADT have suffered from fractures within 5 years. The WHO Fracture Risk Assessment Tool (FRAX) has been utilized to predict the 10-year probability of major osteoporotic and hip fracture. Howev...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-016-0151-9
更新日期：2016-06-17 00:00:00
abstract：BACKGROUND:Recently, the Expanded Prostate Cancer Index Composite 26-item version (EPIC-26) was recommended for the assessment of adverse effects after the treatment of prostate cancer without clear reasons. This decision encouraged us to review the questionnaire development from the UCLA Prostate Cancer Index (UCLA-PC...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-017-0302-7
更新日期：2017-12-02 00:00:00
abstract：BACKGROUND:Spectrum effects refer to the phenomenon that test performance varies across subgroups of a population. When spectrum effects occur during diagnostic testing for cancer, difficult patient misdiagnoses can occur. Our objective was to evaluate the effect of test indication, age, gender, race, and smoking statu...
journal_title：BMC urology
pub_type： 杂志文章
doi：10.1186/s12894-016-0147-5
更新日期：2016-06-13 00:00:00
