Primary infertility secondary to a hidden posterior urethral valve representing a diagnostic challenge in the fifth decade.

Posterior urethral valves (PUVs) are frequently recognized during the perinatal period. Delayed diagnosis is reported usually within the first decade of life with diverse clinical presentations. In the current case report, we describe a 45 years old man patient who presented with aspermia and primary infertility for 8 years in whom his diagnostic workup revealed radiological imaging suggestive of PUVs. This phenomenon was confirmed by cystourethroscopy that showed obstructive valve. Endoscopic ablation resulted in significant improvement of his seminal parameter with successful conception.

Targeted knock-in mice with a human mutation in GRTH/DDX25 reveals the essential role of phosphorylated GRTH in spermatid development during spermatogenesis.

Gonadotropin-regulated testicular RNA helicase (GRTH/DDX25) is a testis specific member of the DEAD-box family of RNA helicases expressed in meiotic and haploid germ cells which plays an essential role in spermatogenesis. There are two species of GRTH the 56 kDa non-phospho and 61 kDa phospho forms. Our early studies revealed a missense mutation (R242H) of GRTH in azoospermic men that when expressed in COS1-cells lack the phospho-form of GRTH. To investigate the role of the phospho-GRTH species in spermatogenesis, we generated a GRTH knock-in (KI) transgenic mice with the R242H mutation. GRTH-KI mice are sterile with reduced testis size, lack sperm with spermatogenic arrest at round spermatid stage and loss of the cytoplasmic phospho-GRTH species. Electron microscopy studies revealed reduction in the size of chromatoid bodies (CB) of round spermatids (RS) and germ cell apoptosis. We observed absence of phospho-GRTH in the CB of RS. Complete loss of chromatin remodeling and related proteins such as TP2, PRM2, TSSK6 and marked reduction of their respective mRNAs and half-lives were observed in GRTH-KI mice. We showed that phospho-GRTH has a role in TP2 translation and revealed its occurrence in a 3' UTR dependent manner. These findings demonstrate the relevance of phospho-GRTH in the structure of the chromatoid body, spermatid development and completion of spermatogenesis and provide an avenue for the development of a male contraceptive.

Risk of diabetes according to male factor infertility: a register-based cohort study.

STUDY QUESTION: Is male factor infertility associated with an increased risk of developing diabetes? SUMMARY ANSWER: The study provides evidence that male factor infertility may predict later occurrence of diabetes mellitus with the risk being related to the severity of the underlying fertility problem. WHAT IS KNOWN ALREADY: Previous cross-sectional studies have shown an increased prevalence of comorbidities among infertile men when compared to controls. STUDY DESIGN, SIZE, DURATION: In this prospective cohort study, 39 516 men who had since 1994 undergone fertility treatment with their female partner were identified from the Danish national IVF register, which includes data on assumed cause of couple infertility (male/female factor, mixed and unexplained infertility) and type of fertility treatment. With a median follow-up time of 5.6 years, each man was followed for diabetes occurrence from enrollment until 31 December 2012 using the National Diabetes Register (NDR). Men with a history of diabetes prior to their fertility diagnosis were excluded. Hazard ratios (HR) were estimated by Cox proportional hazard models with age as the underlying time scale. In addition to analyzing the data for the entire IVF registration period (1994-2012), separate analyses were performed for men identified from the first (1994-2005) and second (2006-2012) IVF registration period owing to heterogeneity in the reporting of male factor infertility in these two time periods, because the reason for male factor infertility was not available from the first register. PARTICIPANTS/MATERIALS, SETTING, METHODS: Male factor infertility was identified from the variable 'yes' or 'no' from the first IVF register and through a diagnosis code (e.g. oligospermia, azoospermia) from the second IVF register. The reference group was men with male factor infertility (='no') and those with normal semen quality or sterilized men. Of the included men, 18 499 (46.8%) had male factor infertility and 21 017 (53.2%) made up the reference group. MAIN RESULTS AND THE ROLE OF CHANCE: A total of 651 (1.6%) diabetes cases were identified during the follow-up period. The adjusted HR's for diabetes risk among men with male factor infertility when compared to the reference group were HR = 1.08 (95% CI: 0.89, 1.31) and HR = 1.45 (95% CI: 1.06, 1.97) for the first and second IVF registration period, respectively. When assessing the effects of individual causes of male factor infertility, the adjusted HR's for men with oligospermia, azoospermia and aspermia were HR = 1.44 (95% CI: 1.01, 2.06), HR = 2.10 (95% 1.25, 3.56) and HR = 3.20 (95% CI 1.00, 10.31), respectively. LIMITATIONS, REASONS FOR CAUTION: We found no increased risk among men identified from the first IVF register, which may be related to exposure misclassification as the reason for male factor infertility was not available from this time period. The NDR does not distinguish between type 1 and type 2 diabetes. WIDER IMPLICATIONS OF THE FINDINGS: These findings support previous studies that a man's reproductive and somatic health are closely intertwined and highlight the importance for further monitoring of these men. Further, implementation of diabetes screening may be especially relevant among aspermic and azoospermic men. STUDY FUNDING/COMPETING INTERESTS: This article is part of the ReproUnion collaborative study, co-financed by the European Union, Intereg V Öresund-Kattegat-Skagerrak. None of the authors declare any conflict of interest. TRIAL REGISTRATION NUMBER: None.

Association of single nucleotide polymorphisms in UBR2 gene with idiopathic aspermia or oligospermia in Sichuan, China.

The associations between three single nucleotide polymorphisms (SNPs; rs3749897, rs16895863 and rs373341) of UBR2 gene and idiopathic aspermia or oligospermia were investigated in this study by a case-control experiment with 149 fertile and 316 infertile men, including 244 patients with idiopathic aspermia and 72 patients with severe oligospermia. The time-of-flight mass spectrometry (Sequenom MassARRAY®  system) was used in this study. A significant difference between the oligospermia men (oligospermia group) and the fertile men (control group) was observed in this research (odds ratio [OR]: 2.764; 95% CI: 95% confidence interval [CI]: 1.171-6.525; P = 0.017), which could indicate that the combined AT-TC-CC genotype in the UBR2 gene (rs16895863, rs373341, rs3749897 respectively) is a possible risk of idiopathic oligospermia for men in Sichuan, China.

Management of the dry ejaculate: a systematic review of aspermia and retrograde ejaculation.

A dry ejaculate (aspermia), may occur either because of an inability to transport semen (anejaculation) or because of an inability to ejaculate in an antegrade direction (retrograde ejaculation). The treatment of aspermia varies with underlying etiology and includes medical therapy with sympathomimetics, urinary sperm retrieval, bladder neck reconstruction, prostatic massage, penile vibratory stimulation, electroejaculation, and surgical sperm retrieval. A systematic review of the current literature was performed for articles on ejaculatory dysfunction related to dry ejaculate. However, the data are insufficient to allow firm comparisons between treatment options. Treatments must be tailored to the individual patient, and treatment decisions should involve consideration of ease of administration, degree of invasiveness, and anticipated success.

Pregnancy outcome according to male diagnosis after ICSI with non-ejaculated sperm compared with ejaculated sperm controls.

The aim of this study was to describe pregnancy outcome in couples who had undergone ICSI using non-ejaculated sperm from men with non-obstructive azoospermia, obstructive azoospermia and aspermia compared with the outcome of ICSI with ejaculated sperm from men with severe oligozoospermia, treated during the same time period. This nationwide cohort study included all children born after ICSI with non-ejaculated sperm in Norway, from when the method was first permitted in Norway in April 2004 to the end of 2010, resulting in 420 pregnancies and a total of 359 children. In 235 of these children, the father was diagnosed with obstructive azoospermia, in 72 with non-obstructive azoospermia, in 31 with aspermia, and in 21 the male cause was unclassifiable. The control group consisted of 760 children from 939 pregnancies conceived by ICSI with ejaculated sperm. Sex ratio, birth weight, rate of pregnancy loss and congenital malformations were not significantly associated with sperm origin or the cause of male factor infertility.

45,X/46,XY qh- karyotype and aspermia. A case report.

A 41-years old male with short stature, abnormal male sex differentiation, aspermia and schizoid character disorder is described. The patient was studied from clinical, endocrinological and genetic perspectives. Cytogenetical analysis revealed a chromosomic mosaicism formed by two normal lines 45X and 46,XY qh-. Molecular studies on AZF region evidenced that it was conserved. The correlation of the symptoms with the cytogenetic finding is discussed.

Molecular analysis of aspermic Fasciola flukes from Korea on the basis of the nuclear ITS1 region and mitochondrial DNA markers and comparison with Japanese aspermic Fasciola flukes.

It has been speculated that populations of aspermic Fasciola flukes in Korea and Japan have a close phylogenetic relationship. To evaluate this, we analyzed 33 Korean aspermic Fasciola flukes on the basis of nuclear ribosomal internal transcribed spacer 1 (ITS1) and mitochondrial NADH dehydrogenase subunit 1 (nad1) and cytochrome c oxidase 1 (cox1) sequences. Fh, Fg, and Fh/Fg types were detected in the ITS1 region and displayed the fragment patterns of F. hepatica, F. gigantica, and both species, respectively by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Additionally, three concatenated haplotypes of nad1 and cox1(nad1/cox1) were detected, and 2 of these, Kor1/Kor1 (Fsp1/Fsp1) haplotype and Kor2a/Kor2 (Fsp2/Fsp2) haplotype, were shared by Korean and Japanese aspermic flukes. The Fst value (0.019), calculated using the concatenated sequences, indicated that Korean and Japanese aspermic Fasciola populations were genetically undifferentiated. Interestingly, a combination of the Fh/Fg type and Kor1/Kor1 haplotype was found at the highest frequency in Korean aspermic flukes, whereas the Fg type and Fsp2/Fsp2 haplotype combination was found at a conspicuously high frequency in Japanese aspermic flukes. This indicates that a founder effect caused by the introduction of infected hosts may have played a key role in the introduction of aspermic Fasciola flukes from Korea into Japan.

[Influence of TORCH-infections on the spermatogenesis of men].

The purpose of the given study was to reveal causal relations between infection of the urino-genital tract by intracellular parasites, the so-called TORCH-infections, and the decrease of spermatogenesis. For observation 182 men of reproductive age (from 22 to 38 years) with oligozoospermia and aspermia, without any complaints or clinical symptoms indicating existence of infections of urino-genital tracts, were selected. Out of those, 131 revealed oligozoospermia, i.e. the quantity of spermatozoons was no higher than 20 mln in 1 ml of ejaculate, and 51 revealed - aspermia. For examination of some TORCH infections, medical doctors in charge directed 44 oligozoospermia patients and 15 aspermia patients, who respectively constituted group I and group II. Examinations were carried out for Chlamydia trachomatis--(Ch.t), Herpes simplex virus--(HSV), Ureaplasma urealiticum--(U.u.), Cytomegalovirus--(CMV), and Mycoplasma hominis--(M.h.). In the group with oligozoospermia, cases of infections by Chlamydias (41.5%) and Herpes virus (51.3%) were frequent, but Ureaplasma (56,5%) was more frequent than any infections. Cytomegalovirus occurred in the least number of cases. Making any conclusions on the frequency of infections by M.h. is difficult due to the low number of examinations. Similar picture was observed in Group II as well. Following successful treatment of infections in Group I, 8 patients with Ch.t. and 8 patients with U.u. showed an improved spermogram after several months. Treatment of other infections did not yield tangible results. In Group II spermatogenesis remained without any changes.

Male and female factors that influence ICSI outcome in azoospermia or aspermia.

Factors that influenced the clinical results of 220 first-attempt intracytoplasmic sperm injection (ICSI) cycles with testicular spermatozoa were evaluated in 107 men with non-obstructive azoospermia, 72 with obstructive azoospermia and 41 with aspermia. Linear and logistic regression analysis showed that the fertilization rate depended positively on Johnsen score (P = 0.016) and on the type of ovarian stimulation: a higher fertilization rate was observed after ovarian stimulation with agonist and recombinant FSH than after stimulation with agonist and urinary menopausal gonadotrophin (P = 0.026). Embryo development to the blastocyst stage was predicted positively by the number of injected oocytes (P = 0.016) and negatively by male FSH concentration (P = 0.019). A higher proportion of blastocysts developed after the use of frozen-thawed spermatozoa in comparison to fresh spermatozoa (P = 0.034). Embryo development to the blastocyst stage influenced pregnancy (P = 0.002) and live birth outcomes (P = 0.005); live birth was also predicted by female age (P = 0.046). Embryo culture to day 5 in comparison to day 2 did not provide higher live birth rates. In azoospermia/aspermia, the ICSI outcome depends on both male factors (FSH, Johnsen score, sperm status and motility) and female factors (age, number of injected oocytes).

Giant multilocular prostatic cystadenoma presenting with obstructive aspermia.

Giant multilocular prostatic cystadenoma (GMPC) is a rare benign tumor involving the prostate gland. Microscopically, it masquerades phyllodes tumor or transitional zone hyperplasia. We report one case of GMPC arising from the prostate central zone (CZ), presenting with long-standing aspermia associated with seminal vesicle fibrous obliteration.

Giant Multilocular Prostatic Cystadenoma Presenting with Obstructive Aspermia

Giant multilocular prostatic cystadenoma (GMPC) is a rare benign tumor involving the prostate gland. Microscopically, it masquerades phyllodes tumor or transitional zone hyperplasia. We report one case of GMPC arising from the prostate central zone (CZ), presenting with long-standing aspermia associated with seminal vesicle fibrous obliteration.

Estudio básico de la pareja estéril / No disponible

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Anejaculation in Patients with Adequate Erection and Intercourse / 대한비뇨기과학회지

Intercourse without ejaculation may be the result of anejaculation, retrograde ejaculation, nonemission, or aspermia. Twelve patients complaining ofnonejaculatory intercourse were studied. Two of them presented primarily with complaints of sexual dysfunction and 10 with infertility. All of them had primary infertility. Eight patients were anejaculation, which was primary in three and secondary in five. Four patients had nonemission. Six patients wanted early treatment for their infertility and underwent electroejaculation, which produced ejaculates in five. Intrauterine insemination was performed with the processed semen in three of the wives, but there are no pregnancies so far. We intend to keep trying such artificial insemination until we succeed.

Semen Analysis in Husbands of Infertile Couples / 대한비뇨기과학회지

Since March 1978, 78 men, husbands of infertile couples who consulted our Severance Hospital Urologic department were instructed to collect seminal fluid samples after at least 3 days of abstinence. Of these 78 patients 28 (35.9%) demonstrated aspermia. The remaining 50 patients were evaluated with past history and physical examination. The semen was examined for liquefaction, volume, sperm motility, morphology, and WBC count. The results were as follows: 1. The mean age was 31.8 years and mean period of infertility was 3.4 years. 2. 34% of the patients had suffered from urethritis, or epididymitis. 3. Varicoceles were found in 14% of the patients. 4. The mean pH of the specimens was 7.4, time of liquefaction was 13.9 minutes and in all of the patients did liquefaction occur within 30 minutes. 5. The volume of the ejaculate averaged 3.4 ml, and in 6% of the patients the volume was below 1 ml. 6. The sperm concentration averaged 60.5 million/ml and 34% had concentrations less than 20 million. The total number of spermatozoa per ejaculate averaged 205.8 million and 26% had total sperm counts under 50 million. 7. Ployspermia was found in 2 men (4%) 8. The mean percentage of active sperm was 53.7% 9. The motile sperm count averaged 31.1 million/ml and the total motile sperm per ejaculate averaged 107.6 million. 10. The percentage of oval cells or normal sperm averaged 68.1% 11. In patients with WBC more than 5/HPF in semen, mean sperm motility (42.0%) was lower than that of the other group (60.3%) 12. According to the fertility index, infertile was 6%, subfertile 44%, relative fertile 30% and highly fertile 20%. 13. In patients with varicocele, mean of the sperm motility was lower than that of patients without varicocele.