Cryptorchidism Research Articles

Decoding the pathogenesis of spermatogenic failure in cryptorchidism through single-cell transcriptomic profiling

Cryptorchidism, commonly known as undescended testis, affects 1%-9% of male newborns, posing infertility and testis tumor risks. Despite its prevalence, the detailed pathophysiology underlying male infertility within cryptorchidism remains unclear. Here, we profile and analyze 46,644 single-cell transcriptomes from individual testicular cells obtained from adult males diagnosed with cryptorchidism and healthy controls. Spermatogenesis compromise in cryptorchidism links primarily to spermatogonium self-renewal and differentiation dysfunctions. We illuminate the involvement of testicular somatic cells, including immune cells, thereby unveiling the activation and degranulation of mast cells in cryptorchidism. Mast cells are identified as contributors to interstitial fibrosis via transforming growth factor β1 (TGF-β1) and cathepsin G secretion. Furthermore, significantly increased levels of secretory proteins indicate mast cell activation and testicular fibrosis in the seminal plasma of individuals with cryptorchidism compared to controls. These insights serve as valuable translational references, enriching our comprehension of testicular pathogenesis and informing more precise diagnosis and targeted therapeutic strategies for cryptorchidism.

Anesthetic management in a rare case of clark-baraitser syndrome: Insights and challenges

Clark Baraitser syndrome is a rare autosomal dominant genetic disorder characterized by multiple congenital anomalies and distinctive facial features. These features, including a high arched palate, can complicate airway management. Anaesthetizing an intellectually disabled patient is a challenging task due to lack of communication and understanding, which makes perioperative evaluation difficult. The perioperative management of antiepileptic drug therapy is important for seizure control in these patients. This case report describes the anaesthetic management of 10-year-old child with Clark Baraitser syndrome with bilateral undescended testis posted for orchiopexy.

Continent stoma with Modified Mansoura Technique (Indiana W pouch with nipple valve fixation) in adult bladder exstrophy: A rare case report on step-by-step surgery technique and outcome

Introduction: Bladder exstrophy (BE), a complex and severe congenital defect of urogenital sinus and the musculoskeletal system, in adulthood is very rare. The surgical management of adulthood bladder exstrophy is complex and post operative complications are possible. This case report show surgical management step-by-step and post operative outcomes of neglected bladder exstrophy with contracted bladder, right renal agenesis, bilateral unpalpable undescended testis (UDT), and megarecti with scibala. Case Presentation: A 23 years old male with neglected bladder exstrophy with contracted bladder, right renal agenesis, bilateral unpalpable undescended testis (UDT), and megarecti with scibala underwent Modified Mansoura Technique (Indiana W pouch + Nipple valve fixation) for the bladder exstrophy, orchidopexy with Shehata technique. Conclusion: Modified Mansoura Technique (Indiana W pouch + Nipple valve fixation) approach yielded favorable outcomes without post operative complications, at least during the monitoring period in hospital. However, continued follow-up is necessary to ensure long-term success.

Urethral duplication with a large cystic dorsal penile mass in a newborn: a case report

BackgroundUrethral duplication is a rare urogenital anomaly with varying anatomical orientations leading to diverse clinical presentations. We present a case of urethral duplication in a neonate featuring a large dorsal cystic mass on the penis, an unusual presentation.Case presentationA term male neonate with a prenatally diagnosed 10 × 10 cm genitourinary cystic mass was delivered via caesarean section. Examination revealed a large cystic mass extending dorsally from the pubic symphysis over a flattened, elongated penile shaft with a single urethral opening in the glans and undescended testes. A size 6-French feeding tube inserted into the urethra drained the bladder.Urethral communication with the cystic mass was confirmed via voiding cystourethrogram and cyst enlargement noted during voiding. Cyst fluid analysis indicated a urinary origin. Computed tomography and ultrasound were not diagnostic. Initial imaging revealed a dorsal cystic mass projecting from the pubic symphysis without bladder connection.Surgical intervention at 3 weeks revealed a Type IIA-2 urethral duplication, with a dorsal hypoplastic urethra communicating with the posterior urethra. Correction included resection of the dorsal urethra, cyst excision, and reconstruction of the penis with the orthotopic ventral urethra and bilateral orchidopexies.Satisfactory functional and cosmetic outcomes were observed at 2 and 8 months after surgery.ConclusionThis case highlights the significance of identifying unique urethral duplication presentations. The novel occurrence of Type IIA-2 urethral duplication terminating in a dorsal cystic mass underscores diagnostic complexity, surgical intricacies, and aesthetic considerations associated with such cases.

Influence of male body mass index on semen analysis parameters and in vitro fertilization outcomes.

Concurrent global increase of prevalence of obesity and male fertility implies link between overweight and obesity with male subfertility. This hypothesis is supported by numerous population-based epidemiological studies. Increase in body mass index (BMI) is associated with poor sperm quality in fertile, and more noticeable in infertile men. Nevertheless, some studies disprove damaging effect of BMI on semen quality. To examine the influence of men's BMI in infertile couples undergoing in vitro fertilization (IVF) on semen analysis parameters and IVF outcomes. Study encompassed all couples who underwent IVF at Gynecology and Obstetrics Clinic Narodni Front in Belgrade during 2018 and 2019. Exclusion criteria were azoospermia, conditions and diseases that could affect the semen analysis parameters (diabetes, malignant diseases treated with radiation and/or chemotherapy, trauma or surgery of the genital organs, mumps or undescended testicles in childhood). Evaluated semen analysis parameters included semen ejaculate volume, sperm pH, sperm count, sperm motility, and sperm morphology. IVF outcomes comprised total number of embryos, number and percentage of obtained good-quality embryos and clinical pregnancy rates. Based on BMI value, participants were divided into a group of underweight (Group 1), normally weight (Group 2), overweight (Group 3), and obese men (Group 4). After applying inclusion and exclusion criteria, 411 men (couples) were included in the analysis. The largest number of men were overweight, while the smallest belonged to the group of underweight participants. There are no significant differences in the semen analysis parameters between study groups. Correlation analysis shown weak and insignificant correlation between BMI and semen analysis parameters. The number and proportion of good quality embryos is significantly lower in overweight and obese study groups compared to normal weight and underweight groups (2.89, 2.91, 2.42, and 2.36, respectively, P = .041). The differences in other IVF outcomes: total number of embryos (3.61, 3.74, 3.21, and 3.37, respectively) and clinical pregnancy rates (41.26%, 43.09%, 42.78%, and 39.95%, respectively) between study groups were not significant (P > .05). BMI does not significantly affect semen analysis parameters, but a higher BMI is associated with a lower number and proportion of good quality embryos in IVF outcomes.

Commentary to “Undescended testis: A roundtable discussion based on clinical scenarios – Part 2”

Commentary to “Undescended testis: A roundtable discussion based on clinical scenarios – Part 2”

72242 - Laparoscopy for impalpable undescended testis – do children with syndromes have worse outcome?

72242 - Laparoscopy for impalpable undescended testis – do children with syndromes have worse outcome?

Management of undescended testis.

Describe why this review is timely and relevant.Undescended testis, or cryptorchidism, is a common diagnosis encountered by pediatricians that requires timely collaboration with pediatric surgical specialists to optimize outcomes for these patients. As this topic continues to be heavily researched, it is imperative to understand current recommendations and emerging management options including new surgical techniques, as well as common pitfalls in care highlighted in the literature. Describe the main themes in the literature covered by the article.This review primarily examines current practice in management including delays in surgical referral, with unnecessary imaging being a key factor that delays time to surgery. This review briefly discusses the diagnosis of undescended testis and the various surgical techniques used including the more recently proposed laparoscopic staged traction orchiopexy (Shehata technique). The ineffectiveness of hormonal therapy is also addressed. describe the implications of the findings for clinical practice or research.This review emphasizes prompt evaluation and diagnosis of undescended testis to facilitate appropriately timed surgical intervention, which plays a major role in outcomes for these patients. Identifying patients at risk of delayed referral is an area of focus for improvement, along with better resource utilization with fewer imaging. Familiarization of surgical options can also facilitate better patient education and provider understanding of risks/benefits.

Role of genetic variations and protein expression of β-Microsemino protein in intrauterine insemination outcome of unexplained infertile men: A case-control study.

Intrauterine insemination (IUI) is often the first-line treatment for unexplained infertility. -Microsemino protein (MSMB) is an abundant protein in seminal plasma that has an inhibitory effect on spontaneous acrosome reaction. The present study aimed to evaluate MSMB gene variations and protein expression on IUI success rate in unexplained infertile men. A case-control study was performed on 100 unexplained infertile Iranian men referred to the Royan Institute, Tehran, Iran for IUI (50 men with IUI positive result [IUI+], and 50 men with IUI negative result [IUI-]). Couples with female infertility factors (such as hormonal disorders, infrequent menstrual period, abnormality in uterus, fallopian tubes, or ovaries) and men with infections of the male accessory glands, hypogonadotropic hypogonadism, clinical varicocele, retractile testis, genital trauma, drug use, or concurrent hormonal treatment Y chromosome microdeletions, and abnormal karyotype were excluded from the study. The polymerase chain reaction sequencing was performed for the promoter and the coding regions of MSMB functional domains. To study the protein expression, the total protein of sperm was extracted, and sandwich enzyme-linked immunosorbent assay was performed. 4 variations were detected (rs12770171, rs10993994, rs2075894, and rs4517463). None of them showed significant differences between the IUI+ and IUI- groups. The mean value of protein expression did not show any differences between the groups. In conclusion, there is no association between genetic variations of promoter and coding regions of MSMB functional domains as well as its expression with IUI success in unexplained infertile men.

Left Testicular Torsion in an Undescended Left Testis in a 5-Year-Old Boy: A Case Report

Purpose: Testicular torsion is a urological emergency characterized by the twisting of the spermatic cord structures, and subsequent loss of blood supply to the ipsilateral testis leading to testicular ischemia and infarction. This condition, if not promptly treated, can result in permanent testicular damage. Within 6 hours from onset of testicular pain, testicular exploration is recommended.While testicular torsion is common in normally descended testes, its occurrence in an undescended testis is rare and poses unique diagnostic and management challenges. Methodology: A 5-year-old male presented with a 6-hour history of severe left groin pain. Clinical examination revealed an empty left Hemiscrotum and a tender left groin swelling. Doppler ultrasound confirmed the absence of the left testis in the scrotum, locating it in the left groin with markedly reduced blood supply, suggestive of testicular torsion. Laboratory investigations, including a complete blood count, were within normal limits. Urgent surgical intervention involved detorsion and bilateral orchidopexy, leading to complete resolution of symptoms and an uneventful recovery. Findings: This case highlights the diagnostic difficulties associated with testicular torsion in an undescended testis. The rarity of this condition necessitates heightened clinical suspicion in patients with cryptorchidism presenting with acute abdominal or groin pain. Relevant literature and case reports emphasize the importance of early diagnosis and treatment to salvage the affected testis. Doppler ultrasonography is the diagnostic modality of choice, though clinical suspicion should guide management due to the possibility of false negatives. Surgical intervention remains the definitive treatment, with timely detorsion and orchidopexy being crucial for favorable outcomes. Unique Contribution to Theory, Practice and Policy: Testicular torsion in an undescended testis requires prompt recognition and multidisciplinary management to prevent long-term complications such as infertility. Clinicians should maintain a high index of suspicion for this condition in pediatric patients presenting with inguinal swelling and ipsilateral empty hemiscrotum. Early surgical intervention is essential for the preservation of testicular function and favorable patient outcomes.

Do We Need Preoperative Antibiotics in Common General Pediatric Surgery Procedures?

Background There are limited studies on the necessity of preoperative antibiotics in surgeries for undescended testis (UDT), inguinal hernia (IH), and umbilical hernia (UH) in children. Here, we investigated the relationship between preoperative antibiotic use and surgical site infection (SSI) incidence in surgeries for UDT, IH, and UH in children. Methods Patients who underwent surgery for IH were subdivided based on the surgical form into those who underwent (i) open IH (OIH) repair and (ii) laparoscopic percutaneous extraperitoneal closure (LPEC). Medical records of patients who underwent surgeries for UDT and IH or UH were retrospectively examined. The SSI incidence was compared between patients receiving and not receiving preoperative antibiotics. In patients who underwent surgery for UH or LPEC, the relative risk of SSI postoperatively in the inguinal region (including surgery for UDT and OIH repair) was examined. Results In total, 926 patients with 1389 wounds were included in this study. SSI rates in patients who underwent surgeries for UDT and UH, OIH repair, and LPEC were 0.2% and 2.7%, 0.3%, and 0.4%, respectively. These rates were not significantly different between patients receiving and not receiving preoperative antibiotics. In patients who underwent surgery for UH, the relative risk of SSI was statistically significant at 9.8 compared with that in patients who underwent surgeries in the inguinal region (95% CI = 1.3-74; p = 0.013). Conclusions Preoperative antibiotics are unnecessary in surgeries for UDT and OIH repair. Patients undergoing surgery for UH should be given extensive care as they are at a high risk of SSI.

Diagnostic value of high-resolution ultrasound in localization and status of non-palpable undescended testis in children

Diagnostic value of high-resolution ultrasound in localization and status of non-palpable undescended testis in children

Diagnoses and Treatment of Acquired Undescended Testes: A Review.

Acquired undescended testes were once considered a sporadic disease. In recent years, reports suggest that they are not uncommon, with an incidence rate about 3 times that of congenital undescended testes. The etiology of acquired undescended testes remains inconclusive, clinical diagnostic standards are unclear, and treatment approaches are still controversial. There is ongoing debate about the mechanism of testicular ascent. The prevailing view is that acquired undescended testes occur due to the partial absorption of the gubernaculum, which forms part of the parietal peritoneum. The residual gubernacular fibers continuously pull on the spermatic cord, preventing the spermatic cord from elongating proportionately to somatic growth, leading to a re-ascent of the testis. Acquired undescended testes may increase the risk of testicular cancer, but this is still debated. The preferred treatment method is also controversial. However, surgical fixation has an immediate effect; no studies have proven that early surgery improves fertility in patients. The etiology of acquired undescended testes is closely related to the continuous pull of the residual gubernacular fibers on the spermatic cord, which prevents the cord from extending proportionately to body growth. There are no clear diagnostic standards for acquired undescended testes yet, and spontaneous descent is possible, so testicular fixation surgery may not be the preferred treatment method.

Laparoscopic vs Open Orchiopexy for Palpable Undescended Testis in Children

Abstract Background Cryptorchidism is the absence of one or both testes in the scrotum and is generally synonymous with undescended testis. Undescended testis is the most common genital disorder identified at birth. Undescended testes occur in 1–3% of full-term and up to 45% of preterm male neonates. Approximately 80% of undescended testes are clinically palpable and 20% are non-palpable. Aim of the Work To compare between laparoscopic and open orchiopexy evaluating final testicular position, success rate, and complications. Patients and Methods A prospective comparative study was made in Urology department, Ain Shams University Hospital for Twelve months starting from 1st of June 2021 to 1st of May 2022 on 50 children (aged from 1-18 years) with UDT and were included in the study and divided in to 2 groups 25 for each study group. Results In the present study the mean age in group I was 8.1± 0.99 y and in group II was 9.28± 0.91 y with no significant difference. The mean operative time in group I was 63.6 ± 5.56 min, and in group II was 58.44. ± 5.28 min with no statistically significant difference. There was in group I all the studied cases had no testicular atrophy, no testicular ascent, no need for redo-orchiopexy and a hernial sac was detected in all cases. In group II all the studied cases had no testicular atrophy, 92% had negative testicular ascent and 96% had a hernial sac. As regard to complications, only 2 patients presented with wound infection in group I and in group II there were a case with wound infection, a case with hydrocele and 2 cases with scrotal haematoma with no significant difference. Conclusion For the treatment of inguinal cryptorchidism, laparoscopic orchiopexy is a safer and less invasive option than open groin surgery. In children with palpable undescended testis, laparoscopic orchiopexy is linked with improved testicular position and a better success rate as open orchiopexy.

A Study of Clinical Profile of Congenital Anomalies of Kidney and Urinary Tract (CAKUT) in a Tertiary Care Center.

Background Congenital anomalies of the kidney and urinary tract (CAKUT) encompass a diverse array of disorders arising from developmental irregularities in the renal parenchymal development, disrupted embryonic migration of the kidneys, and the urinary collecting system. This study aimed to investigate the clinical presentations, patterns of obstructive and non-obstructive CAKUT, and associated extrarenal manifestations in affected children. Methods This observational study was conducted in the Department of Pediatrics, Acharya Vinoba Bhave Rural Hospital, Wardha. Ethical clearance was obtained, and the study included 105 diagnosed CAKUT patients aged from birth to 18 years. Data collection spanned from June 2022 to May 2024. Clinical features, antenatal findings, associated anomalies, estimated glomerular filtration rate (eGFR), and serum creatinine levels were recorded. Descriptive and inferential statistical analyses were performed using Stata software. Results Among the 105 participants, 81 (77.14%) were males, with a male-to-female ratio of 3.37:1. The mean age was 42.49 months. Forty-two individuals (40%) were asymptomatic, while the most common symptomatic presentation was the ventral opening of the urethra (24.76%). Extrarenal malformations were present in 35 subjects (33.33%), with undescended testis (25.71%) and congenital heart disease (CHD) (20%) being the most common. The antenatal diagnosis was made in 63.8% of cases. Obstructive uropathy was present in 42.86% of subjects, with a significant association between antenatal diagnosis and bilateral hydronephrosis. Medical management was provided to 41.9% of subjects, while 58.1% underwent surgical interventions. Conclusion The study highlights the clinical variability and diverse presentations of CAKUT in children, with a substantial proportion being asymptomatic. Early detection through antenatal screening and prompt intervention can potentially prevent or delay the progression to ESRD. The findings underscore the importance of comprehensive evaluation and targeted management strategies to address both renal and extrarenal manifestations of CAKUT.

Two-stage orchiopexy for intra-abdominal testis with short spermatic vessels wrapped in anti-adhesion conduit. 25 years of experience

Treatment of high cryptorchidism can be challenging, often with frustrating results. We report 25 years of experience in the treatment of the cryptorchidism with very short spermatic vessels using an original two-stage orchiopexy that preserves the spermatic vessels. We reviewed the clinical charts of children affected by cryptorchidism with very short spermatic vessels treated through our original surgical approach in tree Institutes of Pediatric Surgery. The first stage of the procedure started with an inguinal incision and a standard orchiopexy with a deep mobilization in the retroperitoneum to straighten the spermatic vessels that are entirely preserved. After realizing intraoperatively that such maximal retroperitoneal mobilization cannot ensure a satisfactory scrotal position of the testis, the spermatic cord is wrapped in a thin sheet of polytetrafluoroethylene (PTFE) shaped as a conduit. The testis is fixed to the bottom of the scrotum which remains invaginated due to the tension. [Fig.A - scheme of the operation]. This first stage can also be performed in laparoscopy, with a video-assisted positioning of the PTFE conduit [Fig.B - laparoscopic view with vessels and vas respectively marked by black and white arrows]. The second surgical stage is scheduled after 6-12 months to remove the PTFE conduit. A group of 100 children affected by cryptorchidism and very short spermatic vessels (9 bilateral, 86 intra-abdominal, 23 "peeping" at the internal ring) for a total of 109 testes underwent surgery with a two-stage procedure. From the first to the second stage, a progressive lowering of each testis towards the scrotum was observed. During the second stage, after removal of the PTFE sheet, the preserved cord was loose in the inguinal canal and all the testes were located in the scrotum: 68 testes were found correctly located with no further care needed, while 41 were still in a high scrotal position. However, the latter were easily detached from the scrotal bottom and re-fixed in a more satisfactory location. At 1-9 years follow-up all the testes but one (99%) were in the correct scrotal position with stable or increased testicular volume [Fig.C], while 1 testis vanished. No complications were observed all along the follow-up. This long term 25-year review indicates that our original surgical technique guarantees a high rate of success with neither evident contraindications nor drawbacks for patients affected by undescended testes with spermatic vessels so short to be untreatable through a standard orchiopexy.

CONSIDERATIONS ON EMBRYOLOGY, ANATOMY AND CLASSIFICATION OF INGUINAL HERNIAS IN CHILDREN

Appropriate surgical treatment of inguinal hernia in children requires an extensive review of the embryological developmental and anatomical aspects of the inguinal canal and hernial sac. The given paper represents a broad survey of data from the literature, predominantly from recent years, and incorporates information on the knowledge of anatomy, embryology and classification of inguinal hernias, which have direct clinical implication in surgery for hernia, hydrocele and undescended testis in children.

Combined gonadotropin therapy to replace mini-puberty in male infants with congenital hypogonadotropic hypogonadism.

Infants born with severe central disorders of the hypothalamic-pituitary-gonadal axis leading to gonadotropin deficiency not only lack pubertal development in adolescence, but also lack infantile mini-puberty. This period of mini-puberty, where infants have gonadotropin and sex steroid concentrations up into the adult range, is vital for future reproductive capacity, particularly in boys. At present, there is no consensus on the diagnosis or management of infants with gonadotropin deficiency due to congenital hypogonadotropic hypogonadism or multiple pituitary hormone deficiency. Case series suggest that gonadotropin treatment in male infants with absent mini-puberty is effective in promoting both testicular descent in those with undescended testes and also facilitating increased penile size. Moreover, replacement with follicle-stimulating hormone increases the testicular Sertoli cell population, measurable as an increase in testicular volume and inhibin B, thus hypothetically increasing the capacity for spermatogenesis in adult life for these patients. However, long-term follow-up data is limited for both outcomes pertaining to fertility and nonreproductive sequelae, including neurodevelopment and psychological well-being. The use of international registries for patients with gonadotropin deficiency is a key element in the collection of high-quality, geographically widespread data to inform best-practice management from birth to adulthood.

Treatment trends for undescended testis and impact of guideline changes a medical health care analysis of orchidopexy and cryptorchidism in Germany between 2006 und 2020

BackgroundThe last decades revealed new scientific knowledge regarding the fertility and potential malignancy of undescended testis AQ2(UDT). Accordingly, many guidelines changed their recommendation concerning timing of therapy, with the goal of an earlier time of surgery.MethodsWe analyzed the number of new diagnosis and performed surgeries in predefined age groups provided by the obligatory annual reports of German hospitals in the reimbursement.INFO”-tool between 2006 and 2020.ResultsOverall, 124,741 cases were analyzed. We showed a slight increase in performed surgeries in the first year by 2% per year with a main increase till 2011, a constant number of surgeries between first and 4th year and a decrease of surgeries between 5 and 14th year of living with a main decrease till 2009 by 3% per year.ConclusionEven if our results illustrate an increasing adaption of the guideline’s recommendation, there is still a significant number of patients who receive later treatment. More research about the reasons and circumstances for the latter is needed.

Post-pubertal management of undescended testes from the malignancy risk point of view: a systematic review.

Undescended testes (UDT) is a condition where one or both testes is absent in the scrotum. The general age recommendation in which the treatment should be performed is before 18 months old due to the infertility risk and malignancy in later life. On the other hand, in post-pubertal UDT, the current guideline recommends orchiectomy; however, this recommendation is weak. Therefore, this study aimed to provide a systematic review of post-pubertal UDT treatment, focusing on the malignancy risk point of view. A systematic search was performed using PubMed, Wiley Online Library and the Cochrane Library up to 5 March 2023. Any study with either post-pubertal orchiectomy or orchidopexy in patients with UDT and reporting the testicular malignancy was included. The exclusion criteria were studies with lack of information of UDT correction time, no history of correction and the full text wasn't available. The data collected were the occurrence of testicular malignancy in post-pubertal UDT patients corrected with any method. Quality and bias assessment was assessed with Newcastle-Ottawa scale and Joanna Briggs Institute tools. Seven articles (three case reports and four observational studies) were reviewed with a total of 42 patients who underwent post-pubertal correction of either unilateral or bilateral UDT. The correction age ranged from 13 to 34 years old, with follow-up of 48.7-252 months. Among those who developed malignancies, the most common were seminoma, teratoma and carcinoma in situ of the testes. In addition, this study was able to propose an algorithm for post-pubertal UDT treatment strategy. The scarce resource was the main limitation of this study. Nevertheless, this review showed that post-pubertal UDT management should be tailored individually. Several factors that should be considered include the condition of the contralateral descended testis, UDT location, serum testosterone level, patient's age, comorbidities, and interest in fertility.