Objective To investigate the manifestations and genetic mechanisms of male sex reversal syndrome. Methods A 22 year old male patient with 46,XX karyotype was systemically examined and a Y specific sequence tagged site (STS),sY14,was chosen to detect sex determining region of Y (SRY) gene by polymerase chain reaction (PCR). Results This patient shows primary and secondary male sex characters while gonads are hypoplastic and malfunctional.The patent has 46,XX karyotype and SRY gene.Therefore,the patient is diagnosed as 46,XX male sex reversal syndrome. Conclusions Translocation of SRY can bring about 46,XX male sex reversal syndrome,whereas gonads of the patients are hypoplastic and malfunctional because of the absence of other genes on Y chromosome.SRY gene plays an important role in sex determination.

Objective To investigate the impaction of different prostate biopsy strategies on the tumor detection.Methods 214 consecutive men who were highly suspected as prostate cancer were included in this study.TRUS guided prostate biopsy of 13 cores was conducted in each patient.Among these individuals,PSA(total prostate specific antigen) level were among 0.8 ng/ml and 112.3 ng/ml,mean 18.7 ng/ml,of which 203 cases were over 4.0 ng/ml.The prostate volume was between 12.3 ml and 182.5 ml with 61.3 ml of mean.DRE(digital rectal examination) was normal in 173 cases and abnormal in 41 cases.The tumor detection rate for each biopsy core was calculated.The sensitivity of different combinations of biopsy cores(eg.prostate biopsy strategies) was compared with a 13 core biopsy protocol,in which besides the sextant biopsies,the far lateral and mid regions of the gland were also taken,as 8 core and 10 core biopsy.Results Prostate cancers were detected in 77 of 214(36.0%) patients with 13 core biopsy protocol.Of the possible combinations of biopsy cores,10-core biopsy protocol that included cores at the base,mid gland and apex of the prostate with lateral base and mid cores detected 97.4% of cancers.The detection rate of this 10-core biopsy protocol was equivalent to that of the 13 core regional biopsy(P=0.5).Conclusions 10-core biopsy protocol that combines cores at the base,mid gland and apex of the prostate with lateral base and mid cores should be the preferred strategy in early detection of prostate cancer.

Objective To quantitatively evaluate the metabolic changes of prostate adenocarcinoma using magnetic resonance spectroscopy (MRS).Methods Eighteen patients of prostate cancer proved by ultrasound guided systemic biopsy were enrolled in this study.All the puncture locations were marked and the corresponding (Choline+Creatine)/Citrate ratios were calculated on the basis of the MRS metabolic map.Results 204 samples were obtained and 106 of them were diagnosed as cancer.The average (Cho+Cre)/Cit ratio in the 106 positions was 2.53?1.02.The (Cho+Cre)/Cit ratio of cancer area was statistically higher than that of noncancerous area (F=8.64, P

Objective To evaluate the impact factors on weight and proportion of prostate tissue resected by transurethral resection of prostate (TURP) in patients with benign prostatic hyperplasia (BPH). Methods The patients undergoing TURP from January 2007 to June 2009 and diagnosed as BPH according to postoperative pathological results were enrolled in this study. The prostate volume measured by transrectal ultrasound (TRUS), prostate specific antigen (PSA), maximum flow rate (MFR), residual urine volume and body mass index (BMI) were measured and calculated. The prostate tissue collected at resection was weighed, and the proportion of the prostate resected was the percentage of the pre-operative estimated weight. Results For the 458 patients with the average age of 69.5 years, average BMI was 24. 3 kg/m2 , PSA 6. 1 μg/ml, prostate volume 85.5 ml, MFR 8. 4ml/s, residual urine volume 31.8 ml, resected prostate weight 32.9 g, proportion of resection 37. 6%Prostate volume and BMI were positively related with resected prostate weight. BMI was positively related with proportion of prostate resection. There was no linear correlation between prostate volume and resected proportion. But there was significant difference in resected proportion between patients with prostate volume more than and less than 40 ml. Finasteride had no influence on the weight and resected proportion. Conclusions Prostate volume, PSA and BMI are correlated with weight and proportion of prostate tissue resected by TURP. Finasteride has no influence on the resected weight and proportion.

Objective To discuss the prostate biopsy results in young men with age less than 50 years and with PSA 4-10 μg/L.Methods From January 2006 to December 2011,22 patients with PSA 4-10 μg/L underwent prostate biopsy for free/total PSA ≤ 0.16 (20 cases) and/or positive digital rectal examination (DRE) (4 cases).The nean age was 43 years (range,24-49 years),the mean PSA level was 7.08 μg/L (range,4.17-9.74 μg/L),the mean free/total PSA level was 0.11 (range,0.03-0.53).Radiologic suspicious lesion was founded in 13 cases.Clinicopathological data from these patients were reviewed.Results The results of the biopsy were 1 (4.5％) case of prostate cancer,2 cases (9.1％) with tuberculosis,9 cases (40.9％) with inflammation,10 cases (45.5％) with benign tissue.In 20 cases with free/total PSA ≤0.16,only 1 case was diagnosed as prostate cancer.In 4 cases with positive DRE,tuberculosis (2 cases) and inflammation (1 case) were diagnosed.Conclusions The prostate cancer detection was rare in young men less than 50 years of age with PSA 4-10 μg/L.The most common cause was prostate hyperplasia with inflammation.

Objective:To evaluate the diagnostic value of contrast-enhanced ultrasound(CEUS) in renal atypical space occupying lesions.Methods:The images of conventional ultrasound and CEUS in 44 patients with 47 renal atypical space occupying lesions from May 2015 to June 2019 were retrospectively analyzed, including 26 males and 18 females. The mean age of patients was(55.9±13.7)years old, ranged from 27 to 79 years old. The mean size of the lesions in conventional ultrasound was (2.5±1.3)cm, ranged from 1.0 to 6.0 cm. The location, size, echo, boundary and color flew signals of renal lesions were observed by conventional ultrasound.The degree and the pattern of enhancement, presence or absence of a clear capsule sign were analyzed by CEUS. The ultrasound diagnosis results were compared with the pathological or clinical diagnosis.Results:Of the 47 lesions, 15 were malignant and 32 were benign. 19 lesions were diagnosed by operation pathology, including 13 renal cell carcinomas, 2 renal lymphomas, 3 renal cysts and 1 inflammatory granuloma; the other 28 benign tumors or pseudotumors were diagnosed by enhanced CT or MRI, and were followed up for more than 1 year, including 5 angiomyolipomas, 15 cysts, 3 renal junction cortex defects, 2 renal column hypertrophies, 1 local non-atrophic renal parenchyma, 1 hump kidney and 1 scar. Most of the renal cell carcinomas were hypoechoic (8/13), "fast wash-in and fast wash-out " (9/13), heterogeneous hypoenhancement (6/13), 9 with pseudocapsule and 6 with necrosis. 2 renal lymphomas were hypoechoic, "fast wash-in and fast wash-out" , 1 isoenhancement and 1 hypoenhancement. The angiomyolipomas were hyperechoic, "slow wash-in and slow wash-out" (4/5), 2 hypoenhancement, 2 hyperenhancement and 1 isoenhancement. Most renal cysts were anechoic(16/18). There was no enhancement in simple renal cysts. The wall or septum of complex renal cysts was thin and homogeneous enhanced, showing "slow wash-in and slow wash-out" with isoenhancement or hypoenhancement. Inflammatory granuloma was cystic-solid. The solid part was hypoenhancement. Renal column hypertrophy, hump kidney and local non-atrophic renal parenchyma were hypoechoic, showing the same enhancement pattern as renal parenchyma by CEUS. The junctional parenchyma defect and renal scar were hyperechoic, showing no enhancement. The sensitivity, specificity, accuracy and the area under the ROC curve of conventional ultrasound and CEUS in the diagnosis of benign and malignant lesions were 86.7%, 87.5%, 87.2%, 0.871 and 100.0%, 96.9%, 97.9%, 0.984.There were significant differences in the diagnosis of renal atypical space occupying lesions between two methods ( P=0.03). Conclusions:CEUS was better than conventional ultrasound in the diagnosis of renal atypical space occupying lesions. CEUS had advantages in the differential diagnosis of benign and malignant tumors, benign lesions and anatomical variants mimicking a renal tumor.

Objective: To assess the diagnostic rate, safety and clinical application of percutaneous renal masses biopsy for advanced renal cell carcinoma patients.Methods: In this retrospective study, we collected the data of renal masses from the patients who underwent renal masses biopsy under ultrasound from April 2001 to December 2014 in Peking University First Hospital.A total of 75 patients who were undiagnosed or diagnosed with advanced renal cell carcinoma by the imageological method were enrolled in this study.The patient and lesion characteristics such as tumor size, pathology of tumor, histologic subtype, pathological grade, biopsied location and biopsied cores were recorded and analyzed.Results: Among all the 75 patients, biopsy was diagnostic in 64 cases (85.3%) and non-diagnostic in 11 cases (14.7%).Of the 64 diagnostic biopsies, 60 were malignant, including 37 (61.7%) renal cell carcinoma (RCC), 13 (21.7%) urothelial carcinoma and 10 (16.7%) other malignant masses.Of all the RCC subjects, 24 suffered from clear cell RCC, 5 papillary RCC, 3 collecting duct carcinomas, 1 unclassified RCC and 4 unknown subtypes.The 11 non-diagnostic biopsied samplings included inflammatory, blood and extrarenal tissue and normal renal tissue.The proportion of collecting duct carcinoma in RCC was 10.8% and the proportion of squamous carcinoma in urothelial carcinoma was 23.1%, which were both higher than the previous research findings.For the male and female groups, non-diagnostic yields were 6.5% and 30.4%, respectively (P=0.022).Of all the 75 patients, 13 renal cell carcinoma patients underwent the surgical treatment and got the results of postoperative pathology.Comparing preoperative biopsy pathological diagnosis with postoperative pathological diagnosis, we found the diagnostic correct rates for benign and malignant lesions, pathological subtype and pathological grade were 100%, 81.8% and 60%, respectively.Mild macroscopic hematuria occurred in 1 case after RMB and there were no serious complications in all the cases.Conclusion: Percutaneous renal masses biopsy under ultrasound with a high diagnostic rate which can define the histologic subtype of renal cell carcinoma.With targeted therapy, more and more patients whose evaluation suggests local advanced disease or metastatic tumors adopt renal tumor biopsy to define the histologic subtype, which could avoid unnecessary surgical treatment.

This study aims to compare the prostate cancer detection rate between magnetic resonance imaging (MRI)-transrectal ultrasound (TRUS) cognitive fusion targeted biopsy and systematic biopsy. A total of 614 patients who underwent transrectal prostate biopsy during 2016-2018 with multiparametric magnetic resonance imaging (mpMRI) were included. All patients with a PI-RADS V2 score ≥ 3 accepted both targeted biopsy and systematic biopsy, and those with a PI-RADS V2 score ≤ 2 only accepted systematic biopsy. Overall prostate cancer detection rate between the two biopsies was compared. MRI-TRUS cognitive fusion targeted biopsy identified 342 cases (75.7%) of prostate cancer while systematic biopsy identified 358 cases (79.2%). There was no significant difference in the detection rate between the two groups ( = 1.621, = 0.203). Targeted biopsy had significant fewer biopsy cores compared with systematic biopsy, reducing (9.3 ± 0.11) cores ( < 0.001) in average. Targeted biopsy had about 10.8% ( < 0.001) more tumor tissues in positive cores compared with systematic biopsy. The results show that both MRI-TRUS cognitive fusion targeted biopsy and systematic biopsy have good detection rate on prostate cancer. Cognitive targeted biopsy may reduce biopsy cores and provide more tumor tissues in positive cores.
Biopsy ; methods ; Humans ; Image-Guided Biopsy ; Magnetic Resonance Imaging, Interventional ; Male ; Prospective Studies ; Prostatic Neoplasms ; diagnostic imaging ; Ultrasonography, Interventional