ABSTRACT
This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithelial cells (approximately 9.2%), such as principal cells and basal cells, was dramatically decreased. Bioinformatics analysis of cell-cell communications and gene regulatory networks at the single-cell level inferred that epididymal epithelial cell loss and fibroblast occupation are associated with the epithelial-to-mesenchymal transition (EMT) process. The present study provides a cell atlas of the epididymis of a patient with 46,XY DSD and serves as an important resource for understanding the pathophysiology of DSD.
Subject(s)
Male , Humans , Epididymis , Disorder of Sex Development, 46,XY/genetics , Disorders of Sex Development , Mutation , Mutation, Missense , Steroidogenic Factor 1/geneticsABSTRACT
We performed this study to evaluate the clinical outcomes of microdissection testicular sperm extraction-intracytoplasmic sperm injection (micro-TESE-ICSI) treatment that used fresh or cryopreserved sperm in patients with nonobstructive azoospermia (NOA). A total of 338 NOA patients with 344 consecutive cycles received treatment in the reproductive medicine center of Peking University Third Hospital in Beijing, China, from January 2014 to December 2017. Fresh oocytes and fresh sperm were used in 222 patients with 234 cycles (Group A). Fresh oocytes and cryopreserved sperm were used in 116 patients with 110 cycles (Group B). We compared patient characteristics, embryonic development, and pregnancy outcomes between Groups A and B. There was no statistical difference in the patient characteristics, and no differences were observed with fertilization or quality embryo rates between Groups A and B. The rates of clinical pregnancy and live birth were both higher for Group A than those for Group B (both P < 0.05). In conclusion, fresh testicular sperm appears to produce better ICSI outcomes than cryopreserved testicular sperm in patients with NOA.
ABSTRACT
The aim of our study was to compare the sperm retrieval rates (SRRs) and clinical outcomes of patients with different causes of azoospermia who underwent microdissection testicular sperm extraction-intracytoplasmic sperm injection (micro-TESE-ICSI). We conducted a retrospective study at the Reproductive Medicine Center of Peking University Third Hospital in Beijing, China, from January 2014 to December 2017. This study examined 769 patients with nonobstructive azoospermia who underwent 347 cycles of micro-TESE-ICSI. Patients with azoospermia were classified into Group A (Klinefelter syndrome, n = 284, 125 cycles), Group B (azoospermia Y chromosome factor c [AZFc] microdeletion, n = 91, 64 cycles), Group C (cryptorchidism, n = 52, 39 cycles), Group D (previous mumps and bilateral orchitis, n = 23, 23 cycles), and Group E (idiopathic azoospermia, n = 319, 96 cycles). Clinical characteristics, SRR, embryonic development, and pregnancy outcomes of the patients were compared between all groups. Patients in Group D had the highest and most successful SRR. The average SRR for all patients was 46.0%. The rates of clinical pregnancy, implantation, and live birth in Group D were 78.3%, 65.0%, and 74.0%, respectively, which were higher than those in all other groups (P 0.05). Patients with orchitis had the highest SRR and best clinical outcomes. Although AZFc microdeletion patients had a higher SRR, their clinical outcomes were worse.
ABSTRACT
OBJECTIVE@#To evaluate the utility of transurethral seminal vesiculoscopy with a slender ureteroscope in the treatment of severe oligoasthenozoospermia secondary incomplete ejaculatory duct obstruction (EDO).@*METHODS@#From March 2018 to September 2018, the clinical data of 8 patients with severe oligoasthenozoospermia secondary incomplete EDO treated by the technique of transurethral seminal vesiculoscopy in the Peking University Third Hospital Reproductive Center were analyzed. Preoperative routine included semen analysis, hormone determination, transrectal ultrasonography, pelvic magne-tic resonance examination and other examinations. All the patients were diagnosed with severe oligoasthenozoospermia secondary to incomplete EDO. All the patients were operated by the same surgeon with multiple cases of experience in transurethral surgery, and 1 year follow-up was conducted to evaluate the surgical effect.@*RESULTS@#The average age of the 8 patients was 29 years, and the average operation time was 32 min. Preoperative transrectal ultrasound indicated 6 cases of ejaculatory duct cyst or Mullerian cyst, 1 case of prostate calcification and bilateral seminal vesicle dilatation. The average maximum transverse diameter of the right seminal vesicle in pelvic MRI was 33.60 mm (24.63-42.28 mm), the average maximum transverse diameter of the left seminal vesicle was 32.85 mm (25.91-44.89 mm), the ave-rage maximum antero-posterior diameter was 27.99 mm (21.36-33.12 mm), the average maximum width of the seminal vesicle duct was 10.53 mm (5.93-19.39 mm). There were 5 cases of ejaculatory duct cyst, 2 cases of seminal vesicle hemorrhage, and 1 case of Mullerian cyst. The semen volume [(2.64±0.80) mL], the sperm concentration [(49.76±8.50)×106/mL], and the motility (grade a+b) [(25.76±6.48)%] in postoperation were significantly higher than those in preoperation [(1.46±0.50) mL, (28.78±5.17)×106/mL, and (2.88±0.93)%, P < 0.05]. Two patients conceived naturally during the follow-up of 6 months after surgery. There were no severe complications, such as retrograde ejaculation, urinary incontinence or rectal injury.@*CONCLUSION@#The technique of transurethral seminal vesiculoscopy is safe and effective for treating severe oligoasthenozoospermia secondary to incomplete EDO. However, due to the small sample size of this study, short follow-up time, and the uncertainty in seminal vesicle surgery, it still needs to be further confirmed by long-term follow-up studies with large samples.
Subject(s)
Adult , Humans , Male , Ejaculatory Ducts , Genital Diseases, Male , Semen Analysis , Seminal Vesicles , UltrasonographyABSTRACT
OBJECTIVE@#To summarizes the intratesticular condition of azoospermia patients, to understand azoospermia more intuitively, and improve the ability of clinical doctors to predict the success rate of microsperm extraction in azoospermia patients.@*METHODS@#Azoospermia patients (excluding Klinefelter's syndrome) who underwent a micro-TESE during January 2014 and January 2018 in a single center were enrolled. The types of seminiferous tubules were summarized, and the clinical characteristics of different types of seminiferous tubules compared with the success rates of sperm extraction. In this study, 472 cases of non-obstructive azoospermia (excluding Klinefelter's syndrome) were analyzed by SPSS 21.0 software package. Relevant data were expressed by median(minimum,maximum).t-test was used to compare the difference of success rate of sperm extraction between each group and the group with the lowest rate (a type).@*RESULTS@#The 472 patients with non-obstructive azoospermia underwent micro-TESE. The mean age of the patients was 31 (23, 46) years, the mean testicular size was 10 (1, 20) mL, the mean FSH was 15.4 (1.21, 68.4) IU/L, the mean T was 8.34 (0.69, 30.2) nmol/L, and totally 202 patients achieved success in micro-TESE (42.7%, 202/472). According to the seminiferous tubules seen during the operation, they were divided into the following six types: Class a, seminiferous tubules developed well and uniformly; Class b, seminiferous tubules developed well, occasionally slightly thick; Class c, seminiferous tubules were generally thin; Class d, seminiferous tubules basically atrophied, occasionally well-developed seminiferous tubules; Class e, all seminiferous tubules atrophied; Class f, seminiferous tubules were infiltrated by yellow substances. The success rate of micro-TESE varied greatly among different types of the patients. A total of 78 patients with type a were 29 (24, 40) years old, FSH 11.1 (1.21, 15.8) IU/L, T 10.2 (3.29, 26.5) nmol/L), and testicular size 12 (12, 20) mL. The successful rate of sperm extraction was 6.41%; 82 patients with type b were 31 (23, 42) years old, FSH 13.8 (3.23, 19.6) IU/L, T 9.44 (3.58, 30.2) nmol/L), and testicular size 12(8,15) mL. The successful rate of sperm extraction was 74.39%; There were 162 patients in group c, aged 31 (25, 40), FSH 19.6 (9.28, 26.6) IU/L, T 8.75 (5.66, 18.6) nmol/L, and testicular size 8 (5, 12) mL. The successful rate of sperm extraction was 45.06%. There were 36 patients in group d, aged 25 (23,38) years and FSH 28.5 (19.3, 45.6) IU/L, T 6.52 (2.12, 9.83) nmol/L, and testicular size 5 (3, 8) mL, and the success rate of sperm extraction was 94.44%. 26 patients with type e were 28(23, 46) years old, FSH 31.3 (18.5, 68.4) IU/L, T 6.72 (0.69, 18.2) nmol/L, and testicular size 5 (1, 8) mL. The success rate of sperm extraction was 45.38%. 88 patients with type f were 29 (24, 38) years old, FSH 18.5 (5.23, 31.6) IU / L, T 8.32 (3.58, 16.5) nmol/L, and testicular size 12 (6, 20) mL. The success rate of sperm extraction was 28.41%.@*CONCLUSION@#The success rate of micro-TESE in different types of seminiferous tubules in testis can be helpful to the judgement of the surgeon during the operation.
Subject(s)
Adult , Humans , Male , Middle Aged , Young Adult , Azoospermia , Dissection , Sperm Retrieval , Spermatozoa , TestisABSTRACT
The treatment of Peyronie's disease has been a challenge to urologists, as most of the current oral medications are considered hardly valid and the rest of the therapies require strict control of indications, some of which remain controversial, while the final surgical option may be associated with complications such as penile shortening or erectile dysfunction. Collagenase clostridium histolyticum has been proved to be effective in dissolving the penile cavernosal plaque and approved by the Food and Drug Administration of the USA as the first drug to be used for the treatment of Peyronie's disease. This article presents an introduction to the characteristics, safety, efficacy, and procedures of this new treatment, which may benefit urologists and the patients with Peyronie's disease.
Subject(s)
Humans , Male , Erectile Dysfunction , Injections, Intralesional , Microbial Collagenase , Therapeutic Uses , Penile Induration , Drug Therapy , General Surgery , Penis , Postoperative Complications , Treatment OutcomeABSTRACT
Objective@#To investigate the clinical application and outcomes of microdissection testicular sperm extraction (micro-TESE) in patients with nonmosaic Klinefelter syndrome (KS).@*METHODS@#A total of 143 nonmosaic KS patients underwent micro-TESE in the Center of Reproductive Medicine of Peking University Third Hospital between July 2012 and August 2016. We analyzed their clinical and follow-up data and evaluated the outcomes.@*RESULTS@#Spermatozoa were successfully retrieved from the testicular tissue in 44.76% (64/143) of the patients, 84.4% (54/64) by unilateral and 15.6% (10/64) by bilateral micro-TESE. Seventy-five of the KS patients were followed up in the years of 2014 and 2015. Of the 34 patients with successful sperm retrieval, 73.52% (25/34) achieved clinical pregnancy and 8 boys and 8 girls were already born in 14 of the 25 cases.@*CONCLUSIONS@#The micro-TESE is a useful method for sperm retrieval in nonmosaic KS patients, with high rates of sperm retrieval, clinical pregnancy, and birth of biological offspring.