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Background: Cryptorchidism, the failure of testes to descend into the scrotum, exposes the testes to higher temperature and external pressure. Scholars from Razi University found through research conducted at different pressure gradients (0, 25, 50, and 100 mmHg) and time gradients (2 and 4 h) that high hydrostatic pressure may lead to sperm apoptosis. In this work, we investigated the effect of external pressure on spermatogonia, exploring a new mechanism of male infertility caused by cryptorchidism. Methods: Various pressure gradients (0, 25, 50, and 100 mmHg) were applied to spermatogonia for different durations (0, 2, and 4 h) in the Cell Counting Kit-8 (CCK8) experiment. Morphological changes, cell ultrastructure, apoptosis rates, and the expression of apoptosis-related proteins (bax, bcl-2, caspase-3, and caspase-9) were assessed through immunofluorescence, electron microscopy, terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL) assay, flow cytometry, immunohistochemistry, real-time quantitative polymerase chain reaction (qPCR), and western blot. Results: The cell viability assay showed that higher external pressure had a greater negative time-dependent impact on cell viability. Immunofluorescence results indicated that external pressure stimuli altered the morphology of spermatogonia. The results of TUNEL assay and flow cytometry demonstrated that external pressure stimuli induced apoptosis in spermatogonia. Transmission electron microscopy (TEM) observations showed the generation of apoptotic bodies, mitochondrial swelling, vacuolization, and mitochondrial cristae fusion. The results of immunohistochemistry indicated that pressure induced the expression of caspase-3 and caspase-9 proteins. qPCR and western blot analyses revealed an increased ratio of bax/bcl-2 and expression of caspase-3 and caspase-9. Methazolamide (cytochrome C inhibitor) blocked the pressure-induced cell apoptosis and inhibited the activation of caspase-3 while Z-IETD-FMK (caspase-8 inhibitor) did not. Conclusions: External pressure promotes spermatogonia apoptosis through the intrinsic apoptosis pathway, which may be one of the mechanisms of male infertility induced by cryptorchidism.

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The absence of one or both testicles in the scrotal position is defined as cryptorchidism. It occurs in 1 - 8 % of full-term newborns and up to 45 % of preterm newborns. Its detection is of great importance due to its association with fertility disorders and the risk of malignancy. The National Endocrinology Committee of the Sociedad Argentina de Pediatría decided to prepare an update document on advances in the diagnosis and treatment of cryptorchidism that contributes to the performance of pediatric practice and allows recognition of conditions that may be accompanied by cryptorchidism, but need more evaluation and referral to a specialist, such as alterations/differences in sexual development, anorchia, genetic syndromes, among others. The first-line treatment is early orchiopexy before 12 to 18 months, always in the hands of pediatric surgeons.

Se define como criptorquidia, o criptorquidismo, a la ausencia de uno o ambos testículos en la posición escrotal. Se presenta en el 1-8 % de los recién nacidos de término y hasta en el 45 % de los pretérmino. Es de gran importancia su detección oportuna por su asociación con alteraciones de la fertilidad y el riesgo de malignidad. El Comité Nacional de Endocrinología de la Sociedad Argentina de Pediatría decidió elaborar un documento de actualización sobre los avances en el diagnóstico y tratamiento de la criptorquidia, útil para la práctica pediátrica y que permita identificar condiciones que puedan acompañarse de criptorquidia, pero que merezcan una evaluación más profunda y derivación al especialista (alteraciones/diferencias en el desarrollo sexual, anorquia, síndromes genéticos). El tratamiento de primera línea es la orquidopexia temprana (antes de los 12 a 18 meses), siempre en manos de cirujanos pediátricos.

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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 ß1 (TGF-ß1) 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.

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Since ectopic twisted testes are a rare condition, correctly and opportunely diagnosing them preoperatively is difficult and can result in testicular necrosis. We report a clinical case of a twisted ectopic testis that was diagnosed preoperatively by ultrasonography, and the testis could be rescued. A generally healthy 13-year-old boy was referred to our Urology Department after experiencing a painless swelling in the left inguinal region two weeks before, and mild exercise-induced pain in the same area one week before the referral. The mild pain persisted without worsening. On examination, a mildly tender swelling was present in the left inguinal region. The left half of the scrotum was empty; however, the right testis was normal in size and position. Ultrasonography revealed that the left spermatic cord was present within the inguinal canal and was directed superficially, with spiral twisting. The left testis was located above the inguinal canal, with normal echogenicity, but was smaller than the right normal testis (right testis, 41 × 28 × 16 mm; left testis, 18 × 18 × 8 mm). Power Doppler ultrasound showed normal blood flow in the left testis. Consequently, we diagnosed an ectopic testis with torsion. Intraoperative examinations confirmed the presence of the testis in the left superficial inguinal pouch. Although the testis had twisted five and a half turns (1980°) clockwise at the level of the superficial inguinal pouch, ischemia was not evident. Orchidopexy of both testes was performed, and the left testicular size was maintained after surgery. If swelling is present in the inguinal region and no testis is found in the scrotum, an ectopic testis should be considered in the differential diagnosis. Preoperatively diagnosing an ectopic, twisted testis by ultrasonography alone is difficult. However, we used ultrasonography effectively to diagnose the ectopic testis preoperatively by tracking the spermatic cord and confirming the torsion of the testis.

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STUDY QUESTION: Does RXFP2 disruption impair male fertility? SUMMARY ANSWER: We identified biallelic variants in RXFP2 in patients with male infertility due to spermatogenic arrest at the spermatid stage, supporting a role of RXFP2 in human spermatogenesis, specifically in germ cell maturation. WHAT IS KNOWN ALREADY: Since RXFP2, the receptor for INSL3, plays a crucial role in testicular descent during prenatal development, biallelic variants lead to bilateral cryptorchidism, as described in four families to date. While animal models have also suggested a function in spermatogenesis, the postnatal functions of RXFP2 and its ligand INSL3, produced in large amounts by the testes from puberty throughout adulthood, are largely unknown. STUDY DESIGN, SIZE, DURATION: A family with two male members affected by impaired fertility due to spermatogenic maturation arrest and a history of bilateral cryptorchidism underwent clinical, endocrinological, histological, genomic, in vitro cellular, and in silico investigations. PARTICIPANTS/MATERIALS, SETTING, METHODS: The endocrinological and histological findings were correlated with publicly available single-cell RNA sequencing (scRNA-seq) data. The genomic defects have been characterized using long-read sequencing and validated with in silico modeling and an in vitro cyclic AMP reporter gene assay. MAIN RESULTS AND THE ROLE OF CHANCE: An intragenic deletion of exon 1-5 of RXFP2 (NM_130806.5) was detected in trans with a hemizygous missense variant c.229G>A, p.(Glu77Lys). The p.(Glu77Lys) variant caused no clear change in cell surface expression or ability to bind INSL3, but displayed absence of a cAMP signal in response to INSL3, indicating a loss-of-function. Testicular biopsy in the proband showed a maturation arrest at the spermatid stage, corresponding to the highest level of RXFP2 expression in scRNA-seq data, thereby providing a potential explanation for the impaired fertility. LIMITATIONS, REASONS FOR CAUTION: Although this is so far the only study of human cases that supports the role of RXFP2 in spermatogenic maturation, this is corroborated by several animal studies that have already demonstrated a postnatal function of INSL3 and RXFP2 in spermatogenesis. WIDER IMPLICATIONS OF THE FINDINGS: This study corroborates RXFP2 as gene implicated in autosomal recessive congenital bilateral cryptorchidism due to biallelic variants, rather than autosomal-dominant cryptorchidism due to monoallelic RXFP2 variants. Our findings also support that RXFP2 is essential in human spermatogenesis, specifically in germ cell maturation, and that biallelic disruption can cause male infertility through spermatogenic arrest at the spermatid stage. STUDY FUNDING/COMPETING INTEREST(S): Funding was provided by the Bellux Society for Pediatric Endocrinology and Diabetology (BELSPEED) and supported by a Research Foundation Flanders (FWO) senior clinical investigator grant (E.D.B., 1802220N) and a Ghent University Hospital Special Research Fund grant (M.C., FIKO-IV institutional fund). The authors declare no conflict of interest. TRIAL REGISTRATION NUMBER: N/A.

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Anti-Müllerian hormone (AMH) has become a pivotal subject in the study of testicular descent, maturation, integrity, and male fertility. Recent studies explored its roles and implications across various domestic species. A prominent approach involved the understanding of the modulation of AMH in reproductive disorders, including cryptorchidism. While substantial findings have been reported in dogs, ruminants, swine, and horses, data on AMH in feline cryptorchidism remains limited. Here, we aimed to bridge this gap by comparing AMH serum levels among cryptorchid, healthy intact, and castrated tomcats, employing an enzyme-linked immunosorbent assay (ELISA) kit for quantification. In addition, AMH expression in retained and descended testes was evaluated through immunohistochemistry, with positive staining quantified via pixel analysis in two distinct regions of interest: the seminiferous tubule and the interstitial space. Furthermore, tissue samples were subjected to histological evaluation and morphometric analysis, which included the calculation of seminiferous tubule areas (STA) and assessment of Johnsen scores. Thus, the relationship between AMH expression, altered testicular histology, and impaired spermatogenesis could be examined. The expression of AMH in retained and descended testes, was investigated, and the relationship between AMH expression, altered testicular histology, and impaired spermatogenesis was examined. Mean serum AMH levels differed significantly (P < 0.001) across the different groups being 15.35 ± 4.66 ng/mL (mean ± SD) in healthy intact tomcats (n = 15), 25.55 ± 2.86 ng/mL (mean ± SD) in cryptorchids (n = 10) and below 0.015 ng/mL in castrated cats (n = 10). STAs and Johnsen scores were significantly reduced in retained testes when compared to descended gonads (P < 0.01). Furthermore, serum AMH was negatively correlated with both the STA (ρ = -0.725, P < 0.001) and the Johnsen scores (ρ = -0.699, P < 0.001), suggesting its potential value for tissue integrity and spermatogenesis evaluation. In addition, positive immunostaining was significantly higher in retained testes (P < 0.05), especially in the interstitial space (P < 0.01), suggesting an involvement of the Leydig cells. Additionally, the increased interstitial expression was linked to the degree of tissue degeneration and the impaired spermatogenesis being negatively corelated with both Johnsen scores (ρ = -0.309, P < 0.01) and STA (ρ = -0.208, P < 0.05). Our findings underscore the potential of AMH in assessing testicular health and reveal possible interspecific differences, stressing the need for further investigation in cats.

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This case report discusses the uncommon occurrence of bilateral inguinal hernias masking cryptorchidism in a 47-year-old male, emphasizing the complexities and nuances of diagnosing and managing undescended testes in adults. Cryptorchidism is most often identified and treated during infancy; however, its rare adult manifestation presents significant diagnostic challenges and is fraught with serious implications for fertility and malignancy if left untreated. The subject presented with long-standing bilateral groin discomfort and was initially evaluated using clinical examination and CT imaging, which diagnosed bilateral inguinal hernias but did not initially detect cryptorchidism. During the staged surgical repairs, the testes were unexpectedly discovered within the hernia sacs, significantly altering the surgical approach and postoperative management. This necessitated an intraoperative consultation and collaboration between general surgery and urology, highlighting the critical role of multidisciplinary teamwork in managing complex surgical cases. The report underscores the importance of meticulous preoperative assessment and raises awareness about the potential for unusual findings in adult inguinal hernia repairs. This case report stresses the need for careful postoperative follow-up and regular urological surveillance to monitor for potential complications, including the development of testicular cancer. This case contributes valuable insights into the management strategies and long-term considerations for adult cryptorchidism, reinforcing the need for heightened clinical suspicion in similar presentations to ensure optimal patient outcomes.

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Key Clinical Message: Cutaneous scaling and associated clinical syndrome displayed in X-linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management. As these patients are very vulnerable perioperatively, meticulous care and support are utmost. Abstract: Ichthyosis is a group of genetic conditions distinguished by the appearance of hyperkeratotic scales on the skin's surface. X-linked ichthyosis results from a mutation in the steroid sulfatase (STS) gene, which encodes the steroid sulfatase enzyme. Here we report a case of a 6-year-old child with X-linked ichthyosis. He presented to our operation theater for correction of left-sided undescended testis and underwent surgery uneventfully. To handle X-linked ichthyosis perioperatively, meticulous planning and efficient anesthetic administration are critical.

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BACKGROUND: The Cut Homeobox 1 (CUX1) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay and impaired intellectual development. Individuals with variants in CUX1 have been described with a variety of co-morbidities including variations in sex development (VSD) although these features have not been closely documented. CASE PRESENTATION: The proband is a 14-year-old male who presented with congenital complex hypospadias, neurodevelopmental differences, and subtle dysmorphism. A family history of neurodevelopmental differences and VSD was noted. Microarray testing and whole exome sequencing found the 46,XY proband had a large heterozygous in-frame deletion of exons 4-10 of the CUX1 gene. CONCLUSIONS: Our review of the literature has revealed that variants in CUX1 are associated with a range of VSD and suggest this gene should be considered in cases where a VSD is noted at birth, especially if there is a familial history of VSD and/or neurodevelopmental differences. Further work is required to fully investigate the role and regulation of CUX1 in sex development.

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BACKGROUND: Despite cryptorchidism being a common genital abnormality in male newborns with significant prevalence variations globally, there is a notable scarcity of epidemiological data on this condition in China. OBJECTIVE: This study aimed to delineate the prevalence pattern of cryptorchidism in Chinese population over the past 15 years using nationwide surveillance data. MATERIALS AND METHODS: Data from the China National Population-based Birth Defects Surveillance System (2007-2021) were analyzed to calculate the prevalence rates of cryptorchidism, stratified by birth year, maternal age, maternal residence, and geographic region. Adjusted prevalence rate ratios were computed using Poisson regression, while trends in prevalence and average annual percent change (AAPC) were assessed using the joinpoint regression model. RESULTS: During the study period, a total of 1,833 cases of cryptorchidism were identified among 2,565,964 full-term male births, resulting in prevalence rates of 7.14, 5.60, and 1.54 per 10,000 births for overall, isolated, and associated cryptorchidism, respectively. The overall prevalence increased from 3.86 to 11.20 per 10,000 births, with an AAPC of 7.9% (95% confidence interval: 5.5-11.0). Significant variations were observed across maternal age (< 20 years, 7.62/10,000; 20-24 years, 6.14/10,000; 25-29 years, 6.96/10,000; 30-34 years, 7.48/10,000; ≥35 years, 9.22/10,000), maternal residence (urban vs. rural, 10.99/10,000 vs. 2.86/10,000), and geographic region (eastern, 12.38/10,000; central, 2.36/10,000; western, 2.63/10,000). Approximately one-third of cryptorchidism cases were bilaterally, while two-thirds were unilateral. Commonly observed associated abnormalities included congenital hydrocele testis, as well as anomalies in the genital organs, circulatory system, and musculoskeletal system. CONCLUSION: Despite lower rates compared to other countries, the increasing trend in prevalence of cryptorchidism necessitates further investigation and intervention.

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Objective: The purpose of this study was to determine whether the presence of blind-ended vas deferens and spermatic vessels (VDSV) during laparoscopic exploration of non-palpable testes (NPT) indicates testicular absence or atrophy. Materials and methods: A retrospective analysis was conducted on clinical data of patients diagnosed with NPT and treated with surgical intervention at our center from April 2013-April 2023. The dataset encompassed information such as the children's age, affected side, size of the contralateral testis, surgical procedures employed, outcomes, and histopathological examination results. All patients underwent physical examination and ultrasonography preoperatively, followed by a combination of laparoscopic exploration and exploration through inguinal or scrotal incisions during surgery. Long-term follow-up was conducted postoperatively. Results: A total of 476 cases comprising 504 NPT were included in this study: 302 cases on the left side, 146 cases on the right side, and 28 cases bilaterally. All patients underwent surgical treatment within 6-126 months (median 13 months). During laparoscopic exploration, blind-ended VDSV were found in 90 testes (72 on the left side, 18 on the right side), while exploration through inguinal or scrotal incisions revealed 52 (57.8%) testicular nodules with atrophy, which were excised, leaving 38 (42.2%) without any findings. Histopathological examination of atrophic nodules revealed fibrosis as the most common finding in 41 cases (78.8%), followed by involvement of the vas deferens in 33 cases (63.5%), calcification in 24 cases (46.2%), epididymis in 23 cases (44.2%), and hemosiderin deposition in 7 cases (13.6%). Fibrosis, calcification, hemosiderin deposition, involvement of the vas deferens, and epididymis were found in combination in 47 specimens (90.4%). Seminiferous tubules (SNT) were found in 3 specimens (5.7%), and germ cells (GC) were found in 1 specimen (1.9%). Conclusion: The presence of blind-ended VDSV during laparoscopic exploration of NPT does not necessarily indicate testicular absence or disappearance. It is possible that atrophic testicular nodules are located within the inguinal canal or scrotum. This understanding contributes to the management of non-palpable testes. Considering their unpredictable malignant potential, we recommend excision.

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BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

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INTRODUCTION AND OBJECTIVE: Previous studies showed that extra blood supply can decrease testicular atrophy following laparoscopic orchiopexy. We evaluated the impact of preserving the gubernacular attachment (which contains blood supply from cremasteric artery and its anastomoses) on atrophy rates following open conventional orchiopexy. STUDY DESIGN: This double-blinded randomized trial was implemented from March 2022 to September 2023. Included boys with non-palpable testis, even with examination under anesthesia, underwent diagnostic laparoscopy to evaluate the testis's location and size. Nubbin testes and those with > 2-cm distance from the internal inguinal ring. Participants were assigned into two groups (gubernaculum sparing (GS) and excision (GE)) by permuted block randomization. Overall success was defined as achieving both morphologic success (atrophy <20% of the intraoperative size) and anatomical success (scrotal or high-scrotal locations). Boys were followed at three- and six-month post-surgery via ultrasound. Independent t-test, repeated ANOVA, and Friedman's tests were used where appropriate. RESULTS: Of 92 boys (105 UDTs overall), 75 testes (36 in GS, 39 in GE groups) were used in the analysis. The mean age of participants was 25 ± 17 months (range 6-84). The mean testis size of cases intraoperatively was 460 ± 226, 396 ± 166, and 520 ± 258 mm3 among all participants, GS, and GE cases, respectively. Both groups showed a significant decrease in testicular volume on both follow-up checkpoints, but this decrement was significantly higher in the GE group (p < 0.001). The anatomical success rate was significantly higher among GS boys (97.2% versus 82.1%; p = 0.038). The overall success rate was significantly higher for the GS group (61.1% versus 25.6%; p = 0.002). CONCLUSION: Although mean testicular volume decreased in both groups, we found superior morphologic and overall success rates among the GS group. The greatest size reduction was noted at the three-month post-surgery compared to the six-month checkpoint. TRIAL REGISTRATION: https://irct.ir/trial/58842.

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OBJECTIVE: Evaluate the level of information of pediatricians about the diagnosis and management of cryptorchidism. METHOD: A cross-sectional observational study was conducted using a form via the "Google Forms" platform. The study population included pediatricians and pediatric residents associated with the Brazilian Society of Pediatrics. Seven hundred twenty-eight responses were recorded and analyzed using IBM SPSS v21. RESULTS: 728 valid responses were obtained. Of these answers, only 20.5 % answered that the physical examination was sufficient for the diagnosis, and 79.4 % responded that they requested ultrasound as the best test to aid in diagnosing cryptorchidism. When questioned about the ideal age for referring a patient with cryptorchidism, the survey recorded 56.3 % of the responses defending the correct age as six months old, 30.2 % shortly after birth, and 13.2 % at two years old. Other topics were addressed in the form, such as the frequency of evaluation of testicular position and investigation for DDS, among others. Still, the answers to these questions were compatible with current manuals and guidelines on cryptorchidism. CONCLUSION: It is evident that the understanding of the professionals consulted about the diagnosis and management of cryptorchidism needs to be updated with the current practices adopted and that pediatricians, in general, must maintain periodic programs on this subject. Therefore, this topic should be part of a continuing education program with pediatric surgery.

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Undescended testis (UDT, cryptorchidism) is the most frequent genital anomaly in boys. However, its treatment varies widely throughout the world. This second part of our roundtable discussion aims to continue to ask global experts to express their attitudes towards several case scenarios of UDT in order to explore the rationale for their clinical decisions. As the European Association of Urology - Young Academic Urologists Pediatric Urology Working Group, we believe that this roundtable series will facilitate colleagues all over the world to reflect and improve their practices regarding the treatment of UDT.

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BACKGROUND: This case describes a Reeves' muntjac deer (Muntiacus reevesi) with a suspected undescended testicle or cryptorchidism. The cryptorchid testicle could not be palpated or visualized with sonography. Contrast-enhanced computed tomography (CT) imaging was performed to avoid an exploratory surgical operation, but no cryptorchid testicle was discovered. The final diagnosis was a singular testicular anorchia. DISCUSSION: Cryptorchidism and hypogonadism affect a relatively small population of male infants but are the most common male genitourinary anomalies. Identifying the location of the undescended testicle is paramount because surgical intervention should occur before the individual's first birthday. Although sonography and magnetic resonance imaging can help identify the location of undescended testicles, when the testicle is intra-abdominal, surgical intervention often is required to identify or confirm the location. CONCLUSION: Although CT is not a first-line imaging modality in human infants with suspected cryptorchidism because of the associated radiation exposure, this case serves as evidence that it might be useful.

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INTRODUCTION: Cryptorchidism is one of the most common congenital anomalies in male children, occurring in 2-5% of full-term male infants. Both genetic and environmental factors are observed to play a role in its etiology. A study conducted in Japan identified the AXIN1 gene as being associated with cryptorchidism. OBJECTIVE: We aimed to conduct a pilot study on AXIN1 gene polymorphism in Turkish children with cryptorchidism, and whether AXIN1 gene polymorphism is a risk factor for cryptorchidism. STUDY DESIGN: Between January 2023 and December 2023, we have planned a prospective controlled study including 84 boys operated for cryptorchidism as study group, and 96 boys operated for circumcision as control group. The remaining blood samples of preoperative laboratory tests in ethylenediamine tetraacetic acid (EDTA) tubes were kept at -20 Co freezer for genomic studies. Patient demographics, physical examination and operative findings were recorded, study patients were grouped according to testis localization. After collecting all samples, genomic DNA isolation procedure was done, and analysis of the 3 polymorphisms (rs12921862, rs1805105 and rs370681) of AXIN1 gene was performed using conventional Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) method. Genotype and allele frequencies of each group was analyzed and compared. RESULTS: The most common location of cryptorchid testis was proximal inguinal (53%), followed by distal inguinal (25.3%), bilateral (13.3%), and intra-abdominal (8.4%). Regarding the 3 polymorphisms of AXIN1 gene, there was no significant difference between study and control groups, in terms of genotype and allele frequencies (P > 0.05). Eight haplotype blocks were estimated for 3 polymorphisms of AXIN1. However, no significant difference was observed between study and control groups regarding haplotype distributions (P > 0.05). In addition, the comparison of the localization of testis with AXIN1 gene polymorphism did not show any significant difference among cryptorchid testis groups (P > 0.05). DISCUSSION: The AXIN1 gene is located on chromosome 16p and its polymorphisms have been associated with various diseases. In a Chinese study, the rs370681 polymorphism was found to be associated with cryptorchidism. However, our results showed no association between the AXIN1 gene haplotypes for the studied polymorphisms and cryptorchidism. CONCLUSION: In this study we have investigated the AXIN1 gene polymorphism in Turkish children with cryptorchidism as a pilot study. Although we could not identify any difference as compared to control group, further research is necessary to uncover the underlying molecular mechanisms contributing to the development of cryptorchidism.

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Key Clinical Message: In babies presenting with an omphalocele, other components of the prune belly syndrome should be scrutinized for early diagnosis and timely intervention. Abstract: A male baby on his 13th day of life presented with an omphalocele. On evaluation, he had congenital absence of left kidney and bilateral cryptorchidism. Therefore, he was diagnosed with prune belly syndrome. He responded well to abdminoplasty, and wait and watch policy was applied for his cryptorchidism.

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BACKGROUND: Traditional open orchiopexy remains the standard treatment for palpable undescended testicles (UDT). However, laparoscopic orchiopexy has recently gained attention as an alternative approach. AIM AND OBJECTIVES: This study aimed to compare the outcomes of laparoscopic versus open orchiopexy for high-inguinal undescended testes. SUBJECTS AND METHODS: A prospective randomized comparative study was conducted, involving 208 children with high inguinal undescended testes. The patients were divided into two groups: group A (104 patients) underwent laparoscopic orchiopexy and group B (104 patients) underwent open orchiopexy. RESULTS: There was a significant difference in the final testicular position between the two groups. The follow-up after 1 year showed that 100% of patients in group A had a lower testicular position, compared to 72.6% in group B. Laparoscopic orchiopexy demonstrated better outcomes in terms of achieving a lower testicular position. CONCLUSION: Both Laparoscopic and Open Orchiopexy are safe and effective for the treatment of high inguinal undescended testes. However, Laparoscopic Orchiopexy was superior to Open Orchiopexy because it was associated with better outcomes with regard to the final testicular position at the bottom of the scrotum or at a lower level below the mid-scrotal point.