Epididymal disjunction anomalies in undescended testis - a factor associated with spermatic obstruction

ABSTRACT Background: To analyze the incidence of epididymal anomalies (EAs) associated to spermatic obstruction in patients with undescended testis (UT) according to testicular position and age. Materials and Methods: We studied 87 patients (110 testis) with cryptorchidism and analyzed the presence of EAs correlated with the testicular position, age and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis we considered three situations: (a) Normal pattern: the epididymis was attached to the testis at the head and tail and epididymis totally attached to the testis; (b) EAs: when the epididymis was attached to the testis only at the head (Figure-1A) and (c) EAs associated to spermatic obstruction: epididymis was attached to the testis only at the tail (Figure-1B) and when there are no visible connection between testis and epididymis (Figure-1C). We used the Wilcoxon-Mann-Whitney test and the Chi-square test for contingency analysis (p <0.05). Results: The mean age of the patients was 5.18 years (SD=2.867). Of 110 testes analyzed, 14 were abdominal (12.72%); 83 inguinal (75.45%) and 13 suprascrotal (11.81%). Normal relationships between testis and epididymis were observed in 54 patients (62.1%) with no significant differences in relation to the patient's age (p=0.666). Epididymal tail disjunction was observed in 23 patients (26.44%), with no significant differences in relation to age (p=0.59). EAs associated to spermatic obstruction were observed in 16 patients (18.4%), also with no significant differences in relation to age (p=0.684). We did not observe significant correlation between the testis position and the incidence of EAs (p=0.119). We did not observe significant correlations between patency of the PV (64.7%) and incidence of EAs (p=0.742). Conclusions: Epididymal anomalies associated with spermatic obstruction are present in almost 20% of undescended testes, without significant correlation with age, testicular position and patency of the PV. This information needs to be correlated to the infertility risk of this congenital anomaly.

Epididymal disjunction anomalies in undescended testis - a factor associated with spermatic obstruction.

BACKGROUND: To analyze the incidence of epididymal anomalies (EAs) associated to spermatic obstruction in patients with undescended testis (UT) according to testicular position and age. MATERIALS AND METHODS: We studied 87 patients (110 testis) with cryptorchidism and analyzed the presence of EAs correlated with the testicular position, age and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis we considered three situations: (a) Normal pattern: the epididymis was attached to the testis at the head and tail and epididymis totally attached to the testis; (b) EAs: when the epididymis was attached to the testis only at the head (Figure-1A) and (c) EAs associated to spermatic obstruction: epididymis was attached to the testis only at the tail (Figure-1B) and when there are no visible connection between testis and epididymis (Figure-1C). We used the Wilcoxon-Mann-Whitney test and the Chi-square test for contingency analysis (p <0.05). RESULTS: The mean age of the patients was 5.18 years (SD=2.867). Of 110 testes analyzed, 14 were abdominal (12.72%); 83 inguinal (75.45%) and 13 suprascrotal (11.81%). Normal relationships between testis and epididymis were observed in 54 patients (62.1%) with no significant differences in relation to the patient's age (p=0.666). Epididymal tail disjunction was observed in 23 patients (26.44%), with no significant differences in relation to age (p=0.59). EAs associated to spermatic obstruction were observed in 16 patients (18.4%), also with no significant differences in relation to age (p=0.684). We did not observe significant correlation between the testis position and the incidence of EAs (p=0.119). We did not observe significant correlations between patency of the PV (64.7%) and incidence of EAs (p=0.742). CONCLUSIONS: Epididymal anomalies associated with spermatic obstruction are present in almost 20% of undescended testes, without significant correlation with age, testicular position and patency of the PV. This information needs to be correlated to the infertility risk of this congenital anomaly.

'Testis-epididymis dissociation' in cryptorchidism and hydrocele: the tip of the iceberg of a persistent genital mesentery.

PURPOSE: To investigate whether testis-epididymis dissociation encountered in boys with cryptorchidism/hydrocele is related with an abnormal persistence of the fetal mesentery of testis and associated ducts. METHODS: We examined the morphology of peritoneal folds of the testis, epididymis, and vas deferens in 25 boys operated for unilateral cryptorchidism [inguinal (n = 20), intrabdominal (n = 5)] and 20 boys operated for unilateral communicating hydrocele. Findings were compared with the normally persisting genital mesentery of rats (n = 30, both sides), a known animal model of the genital mesentery of human fetuses, as well as with the normal mature pattern of genital peritoneal folds in adult male cadavers (n = 12, both sides). Rats before testis descent [aged 18 days (n = 15)] served for comparison with boys with cryptorchidism, while rats after testis descent [aged 50 (n = 15)] known to retain patent processi vaginales for comparison with boys with hydrocele. RESULTS: A well-developed genital mesentery, identical to the fetal-type genital mesentery in the rat, was documented in cryptorchidism and hydrocele. The peritoneum enveloped the testis, epididymis, and vas deferens, and formed wide ligaments between testis-epididymis, epididymis-vas deferens, and vas-posterior wall; processus vaginalis was patent in all cases. The testis-epididymis ligament was related with testis-epididymis distancing, the so-called testis-epididymis dissociation. On the contrary, genital mesentery had involuted in the adult male cadavers, except for a small portion of testis-epididymis ligament corresponding to the so-called sinus epididymis. CONCLUSION: The testis-epididymis dissociation encountered in cryptorchidism/hydrocele is part of an anomalously persisting fetal-type genital mesentery.

Deficiency of the transcription factor PLAG1 results in aberrant coiling and morphology of the epididymis.

Mice deficient in the transcription factor pleomorphic adenoma gene 1 (PLAG1) exhibit reproductive issues that are characterized, in part, by decreased progressive sperm motility in the male. However, the underlying cause of this impairment is unknown. As epididymal transit is critical for sperm maturation and motility, the morphology of the epididymis of Plag1-deficient mice was investigated and the spatial expression patterns of PLAG1 protein and mRNA were identified. Using X-gal staining and in situ hybridization, PLAG1 was shown to be widely expressed in both the epithelium and stroma in all regions of the mouse epididymis. Interestingly, the X-gal staining pattern was markedly different in the cauda, where it could be suggestive of PLAG1 secretion into the epididymal lumen. At all ages investigated, the morphology of epididymides from Plag1 knockout (KO) mice was aberrant; the tubule failed to elongate and coil, particularly in the corpus and cauda, and the cauda was malformed, lacking its usual bulbous shape. Moreover, the epididymides from Plag1 KO mice were significantly reduced in size relative to body weight. In 20% of Plag1-deficient mice, the left testicle and epididymis were lacking. The impaired morphogenesis of the epididymal tubule is likely to be a major contributing factor to the fertility problems observed in male Plag1-deficient mice. These results also establish PLAG1 as an important regulator of male reproduction, not only through its involvement in testicular sperm production, but also via its role in the development and function of the epididymis.

Urocortinergic system in the epididymis of the normal and cryptorchid dogs.

Cryptorchidism is associated with changes in the gonads and the spermatic duct system, which may cause infertility problems. Urocortin (UCN) is a corticotrophin-releasing hormone (CRH)-related peptide, which affects several functions of male genital organs. The aim of the present study was to investigate the expression of UCN and its receptors CRHR1 and CRHR2 using immunohistochemistry, western blotting and real-time reverse transcription polymerase chain reaction in tissues collected from the epididymis of normal and cryptorchid dogs. The lumen of the cryptic epididymal duct was found to be relatively smaller than that of the normal one, and interstitial tissue was abundant in the cryptic epididymis. In addition, only a few spermatids were observed in the lumen of the epididymal duct. Results showed that UCN, CRHR2 and CRHR1 were expressed in tissues collected from normal and cryptic epididymal ducts. Urocortin- and CRHR2-immunoreactivities (IRs) were detected in the principal cells of the caput, corpus and cauda of the normal and cryptic epididymides. CRHR1-IR was detected in vascular smooth muscles and fibromuscular cells surrounding epididymal tubules of the normal and cryptorchid dogs. Expression levels of UCN and CRHR2 mRNA were higher in cryptic epididymal ducts than that in normal epididymal ducts. These results suggest that UCN and its receptors might play a role in regulating the maturation and storage of spermatozoa. These findings indicated that the expression of these proteins could be modulated by the cryptorchidism condition.

Relationship between Undescended Testis Position and Prevalence of Testicular Appendices, Epididymal Anomalies, and Patency of Processus Vaginalis.

OBJECTIVES: To assess the incidence of testicular appendices (Tas), epididymal anomalies (EAs), and processus vaginalis (PV) patency in patients with undescended testis (UT) according to testicular position and to compare them with human fetuses. METHODS: We studied 85 patients (108 testes) with cryptorchidism and compared the features with those of 15 fetuses (30 testes) with scrotal testes. We analyzed the relationships among the testis and epididymis, patency of PV, and the presence of TAs. We used the Chi-square test for statistical analysis (p < 0.05). RESULTS: In 108 UT, 72 (66.66%) had PV patent, 67 (62.03%) had TAs, and 39 (36.12%) had EAs. Of the 108 UT, 14 were abdominal (12.96%; 14 had PV patency, 9 TAs, and 7 EAs); 81 were inguinal (75%; 52 had PV patency, 45 TAs, and 31 EAs), and 13 were suprascrotal (12.03%; 6 had PV patency, 13 TAs, and 1 EAs). The patency of PV was more frequently associated with EAs (p = 0.00364). The EAs had a higher prevalence in UT compared with fetuses (p = 0.0005). CONCLUSIONS: Undescended testis has a higher risk of anatomical anomalies and the testes situated in abdomen and inguinal canal have a higher risk of presenting patency of PV and EAs.

Do retractile testes have anatomical anomalies?

OBJECTIVES: To assess the incidence of anatomical anomalies in patients with retractile testis. MATERIALS AND METHODS: We studied prospectively 20 patients (28 testes) with truly retractile testis and compared them with 25 human fetuses (50 testes) with testis in scrotal position. We analyzed the relations among the testis, epididymis and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis, we used a previous classification according to epididymis attachment to the testis and the presence of epididymis atresia. To analyze the structure of the PV, we considered two situations: obliteration of the PV and patency of the PV. We used the Chi-square test for contingency analysis of the populations under study (p<0.05). RESULTS: The fetuses ranged in age from 26 to 35 weeks post-conception (WPC) and the 20 patients with retractile testis ranged in ages from 1 to 12 years (average of 5.8). Of the 50 fetal testes, we observed complete patency of the PV in 2 cases (4%) and epididymal anomalies (EAs) in 1 testis (2%). Of the 28 retractile testes, we observed patency of the PV in 6 cases (21.4%) and EA in 4 (14.28%). When we compared the incidence of EAs and PV patency we observed a significantly higher prevalence of these anomalies in retractile testes (p=0.0116). CONCLUSIONS: Retractile testis is not a normal variant with a significant risk of patent processos vaginalis and epididymal anomalies.

Do retractile testes have anatomical anomalies?

ABSTRACT Objectives: To assess the incidence of anatomical anomalies in patients with retractile testis. Materials and Methods: We studied prospectively 20 patients (28 testes) with truly retractile testis and compared them with 25 human fetuses (50 testes) with testis in scrotal position. We analyzed the relations among the testis, epididymis and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis, we used a previous classification according to epididymis attachment to the testis and the presence of epididymis atresia. To analyze the structure of the PV, we considered two situations: obliteration of the PV and patency of the PV. We used the Chi-square test for contingency analysis of the populations under study (p <0.05). Results: The fetuses ranged in age from 26 to 35 weeks post-conception (WPC) and the 20 patients with retractile testis ranged in ages from 1 to 12 years (average of 5.8). Of the 50 fetal testes, we observed complete patency of the PV in 2 cases (4%) and epididymal anomalies (EAs) in 1 testis (2%). Of the 28 retractile testes, we observed patency of the PV in 6 cases (21.4%) and EA in 4 (14.28%). When we compared the incidence of EAs and PV patency we observed a significantly higher prevalence of these anomalies in retractile testes (p=0.0116). Conclusions: Retractile testis is not a normal variant with a significant risk of patent processus vaginalis and epididymal anomalies.

Proximally Directed Double-looped Epididymis and Vas Deferens Simulating Vas Duplication: The Importance of Precise Definition of Abnormal Ductal Anatomy in Cryptorchidism.

OBJECTIVE: Epididymal and vasal abnormalities are frequently recognized with undescended testes. The most common defect identified is the extended or elongated epididymis, an anomaly in which the epididymal tail extends distally beyond the testis before looping back upon itself, then following its normal course. Although the impact on fertility has not been established, the necessity of recognizing these vaso-epididymal abnormalities surgically is obvious as these frequently simulate a blind-ending spermatic cord leading to inadvertent excision or leaving the unseen testis more proximally in the abdomen. With this in mind, we describe a more complex vaso-epididymal structural abnormality with proximal extension of the epididymis and vas simulating duplication of these structures. METHODS: The varied surgical findings of a proximally directed double-looped abnormal epididymis and vas deferens associated with cryptorchid testes were identified in 15 children. In all instances, the epididymis extended proximally up the spermatic cord for at least 4 cm, simulating reduplication of the vas deferens and leading to bizarre ductal anatomy and confusing anatomical findings. RESULTS: In our practice, a number of abnormalities of the vaso-epididymal structures have been defined, but we isolated a number of situations in which identification of a proximally directed double-looped epididymis was noted during surgical exploration for cryptorchidism. Our review demonstrated several situations such as this where misidentification could have resulted in inadvertent transection of the vas deferens. CONCLUSION: The need for recognition of these unusual ductal abnormalities associated with cryptorchid testes is re-emphasized by these extreme examples to prevent surgical mishaps at orchidopexy.

The role of human epididymis protein 4 in the diagnosis of epithelial ovarian cancer

Purpose: Epithelial ovarian cancer is one of the most lethal female genital tract cancers. Early diagnosis of EOC would benefit the patients a lot. Human epididymis protein 4 (HE4) has been regarded as a new powerful biomarker in diagnosis of EOC; we hope to obtain system knowledge of HE4 and understand the role of HE4 in diagnosis of epithelial ovarian cancer (EOC). Methods: We searched Pubmed, Embase, Medline, and Chinese National Knowledge Infrastructure (CNKI) for articles that included HE4's origin, characteristics, detection methods, clinical efficacy alone or combined with CA125, the risk of malignancy index, and the risk of ovarian malignancy algorithm. The diagnostic performance for the EOC and the role in the recurrence and procession in EOC were also discussed. Results: We got 83 most related articles and found that there were significantly difference existing among the studies, such as the clinical characteristics of patients, the methodology for measuring HE4, the different cut-offs for HE4 and so on. Conclusion: HE4 is a promising biomarker for the early diagnosis of EOC. However, each lab should establish its own reference internal of HE4 (AU)

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Epididymal anomalies in boys with undescended testis or hydrocele: Significance of testicular location.

BACKGROUND: Epididymal anomalies and patent processus vaginalis are frequently found in boys with cryptorchidism or hydrocele. We conducted this study to evaluate the association between epididymal anomalies and testicular location or patent processus vaginalis in boys with undescended testis or hydrocele. METHODS: Children undergoing surgery with undescended testis (group A, 136 boys and 162 testes) or communicating hydrocele (group B, 93 boys and 96 testes) were included. Testicular locations and epididymal anomalies were investigated prospectively. An anomalous epididymis was defined as anomalies of epididymal fusion that consisted of loss of continuity between the testis, the epididymis, and the long looping epididymis. The epididymis was considered normal when a normal, firm attachment between the testis, the caput, and the cauda epididymis was present. RESULTS: The mean ages of groups A and B were 24.6 ± 19.7 (range, 8-52 months) and 31.4 ± 20.6 months (range, 10-59 months). The incidence of epididymal anomalies was significantly higher in group A than that in group B (65.4 % vs. 13.5 %, P < .001). The incidence of epididymal anomalies in boys with undescended testis was significantly different according to testis location. Epididymal anomalies were observed in 100 %, 91.4 %, and 39.3 % of cases when the testis was located in the abdomen, inguinal canal, and distal to the external inguinal ring, respectively (P < 0.001). CONCLUSION: We conclude that epididymal anomalies were more frequent in boys with undescended testis than in boys with hydrocele, and that these anomalies were more frequent when undescended testis was at a higher level. These results suggest that testicular location is associated with epididymal anomalies rather than patent processus vaginalis.

The Histone Methyltransferase Gene Absent, Small, or Homeotic Discs-1 Like Is Required for Normal Hox Gene Expression and Fertility in Mice.

Chromatin remodeling influences gene expression in developing and adult organisms. Active and repressive marks of histone methylation dictate the embryonic expression boundaries of developmentally regulated genes, including the Hox gene cluster. Drosophila ash1 (absent, small or homeotic discs 1) gene encodes a histone methyltransferase essential for regulation of Hox gene expression that interacts genetically with other members of the trithorax group (TrxG). While mammalian members of the mixed lineage leukemia (Mll) family of TrxG genes have roles in regulation of Hox gene expression, little is known about the expression and function of the mammalian ortholog of the Drosophila ash1 gene, Ash1-like (Ash1l). Here we report the expression of mouse Ash1l gene in specific structures within various organs and provide evidence that reduced Ash1l expression has tissue-specific effects on mammalian development and adult homeostasis. Mutants exhibit partially penetrant postnatal lethality and failure to thrive. Surviving mutants have growth insufficiency, skeletal transformations, and infertility associated with developmental defects in both male and female reproductive organs. Specifically, expression of Hoxa11 and Hoxd10 are altered in the epididymis of Ash1l mutant males and Hoxa10 is reduced in the uterus of Ash1l mutant females. In summary, we show that the histone methyltransferase Ash1l is important for the development and function of several tissues and for proper expression of homeotic genes in mammals.

Bilateral isolated Epididymal Agenesis in a 32 year old man.

Epididymal agenesis is defined as the absence of the epididymis totally or segmentally, unilateral or bilateral, which is secondary to the Wolffian duct malformation (1). Rete testis, epididymis, vas deferens and seminal vesicle are believed to develop from Wolffian ducts.

Bilateral isolated Epididymal Agenesis in a 32 year old man

Epididymal agenesis is defined as the absence of the epididymis totally or segmentally, unilateral or bilateral, which is secondary to the Wolffian duct malformation (1). Rete testis, epididymis, vas deferens and seminal vesicle are believed to develop from Wolffian ducts.

The separation of the epididymis and the abnormal attachment of the gubernaculum cause undescendence in the rat testes.

PURPOSE: Epididymal anomalies are common in cryptorchid patients. This led us to consider that anomalies of the epididymis, to which the gubernaculum is attached, or abnormal attachment of the cranial end of the gubernaculum, could lead to cryptorchidism. METHODS: Twenty-eight male Sprague-Dawley rats were divided into two groups: In Group 1 rats (n = 14), the epididymis was isolated from the testis, and in Group 2 rats (n = 14), the gubernaculum was isolated from the epididymis and re-attached to the tail of the epididymis. In both groups, the non-operated testes were used as the control. RESULTS: In Group 1, cryptorchidism rates were 1/14 in the control testes and 8/14 in the operated testes (p < 0.01). In Group 2, cryptorchidism rates were 0/13 in the control testes and 6/13 in the operated testes (p < 0.01). CONCLUSION: Cryptorchidism was seen when the epididymis was loosely or non-connected to the testis and the gubernaculum was attached solely to the epididymis (mimicking anomalies of ductal fusion) and when the gubernaculum was attached to the tail of the epididymis (mimicking anomalies of ductal suspension). Therefore epididymal anomalies and abnormal attachment of the gubernaculum may play a role in the undescendence of the testes in the rats.

Epididymal-testicular fusion anomalies in cryptorchidism are associated with proximal location of the undescended testis and with a widely patent processus vaginalis.

Past studies documented the presence of epididymal/testicular fusion anomalies and persistence of a patent processus vaginalis in a small case-series of cryptorchid and/or hydrocele patients. The primary aim of this study was to determine the prevalence of the epididymal/testicular anomalies in a series of more than 1000 cryptorchid patients compared with controls. Secondary aims were: (i) to investigate the association between the cryptorchidism and the patency of p. vaginalis; and (ii) to correlate the epididymal/testicular fusion anomalies with the position of the testis and with the patency of the p. vaginalis. The clinical and surgical data of 1002 cryptorchid patients and 230 controls were retrospectively retrieved and analysed. Epididymal/testicular fusion anomalies were classified as: (i) normal anatomy; (ii) minor anomalies; and (iii) major anomalies. Statistical analysis was performed using the Student's t-test and Chi-square tests. The prevalence of the epididymal/testicular fusion anomalies was higher in the cryptorchid group compared with that of the control group (minor and major anomalies in cryptorchids vs. controls, respectively: 42.2 vs. 5.6% and 9.3 vs. 1.6%, P < 0.0001). Moreover, we documented a correlation of these anomalies with a more proximal localization of the testis (minor and major anomalies in proximal vs. distal location of the testis, respectively: 62.5 vs. 34.8% and 19.1 vs. 6.3%, P < 0.0001) and with the persistence of a widely patent p. vaginalis (minor and major anomalies in widely patent p. vaginalis vs. narrow duct, respectively: 51.7 vs. 42.2 and 11.9% vs. 7.8%, P < 0.001). In conclusion, the epididymal/testicular fusion anomalies were strongly associated with cryptorchidism and the persistence of a widely patent peritoneal vaginal duct. Although it remains unclear whether these anomalies cause non-descent of the testis or, conversely, result from the cryptorchidism or from the persistence of a widely patent duct, our data re-enforce this association.

The prevalence of bell clapper anomaly in the solitary testis in cases of prior perinatal torsion.

PURPOSE: Bell clapper anomaly is associated with an increased risk of intravaginal testicular torsion. However, perinatal torsion is thought to be secondary to an extravaginal process. We quantified the contralateral prevalence of bell clapper anomaly in children found to have atrophic testicular nubbins secondary to presumed torsion during gestation to better define the subsequent risk of metachronous testicular torsion. MATERIALS AND METHODS: Inspection results for the presence of contralateral bell clapper anomaly was recorded by a single surgeon in 50 consecutive cases in which exploration for nonpalpable testes revealed a testicular nubbin. For comparison data were collected in 27 consecutive cases of acute testicular torsion. Anatomy of the normal contralateral testis was compared between the 2 groups. RESULTS: Average age at surgery in the perinatal torsion group was 15 months vs 12.7 years in the acute torsion group. One case of partial contralateral bell clapper anomaly was discovered in the perinatal torsion group but no complete anomaly was found. In contrast, in older boys with acute testicular torsion complete bell clapper anomaly was found in 21 of the 27 contralateral testes (78%). CONCLUSIONS: In older boys with acute testicular torsion contralateral bell clapper anomaly is highly prevalent, supporting the standard practice of contralateral testicular fixation in this clinical situation. However, the prevalence of contralateral bell clapper anomaly is exceedingly small in cases of monorchism after perinatal torsion, substantiating an insufficient risk of subsequent torsion to justify routine fixation of the solitary testis.