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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. [ABSTRACT FROM AUTHOR]

Introduction: The increasing prevalence of infertility in male dogs in clinical practice mirrors current trends seen in human medicine. Acquired infertility is notably more common in dogs compared to congenital causes, with conditions such as testicular degeneration leading to irreversible loss of fertility. Current diagnostic methods for testicular degeneration, such as histopathological and cytological examinations, rely on testicular biopsy or fine needle aspiration, making them less feasible for routine use. Anti-Müllerian hormone (AMH), produced by Sertoli cells, has emerged as a potential alternative biomarker for testicular health, which can be measured in serum. This study evaluates AMH as a potential marker for testicular degeneration, using cryptorchid dogs as models for impaired fertility and altered testicular histology. Methods: The relationship between serum AMH levels and AMH tissue expression with impaired spermatogenesis and altered histology was investigated. Serum AMH levels were determined in intact, cryptorchid, and castrated individuals using an immuno-enzymatic ELISA kit and compared between subgroups based on testicular location. Tissue AMH immuno-expression was differentially quantified in two regions of interest (ROIs), the interstitial space and the seminiferous tubule, in both descended and retained gonads. Furthermore, testicles were analyzed using histomorphometric analysis in seminiferous tubules, while spermatogenesis was evaluated using the Johnsen score. Results: Serum AMH levels were positively correlated with AMH expression assessed in both interstitial space (ρ = 0.494, p ≤ 0.01) and seminiferous tubules (ρ = 0.610, p ≤ 0.001). Conversely, serum AMH levels showed a negative correlation with the seminiferous tubule area (ρ = -0.435, p ≤ 0.05). Smaller seminiferous tubule areas were linked to increased AMH reactivity in both seminiferous tubules (ρ = -0.774, p ≤ 0.001) and interstitial space (ρ = -0.725, p ≤ 0.001). Additionally, lower Johnsen scores were associated with higher serum AMH levels (ρ = -0.537, p ≤ 0.01) and elevated AMH expression in both seminiferous tubules (ρ = -0.756, p ≤ 0.001) and interstitial space (ρ = -0.679, p ≤ 0.001). Discussion: Our results suggest that higher serum levels and tissue expression of AMH are linked to smaller seminiferous tubules and poorer Johnsen scores, reflecting degenerative changes and Sertoli cell dysfunction in retained testicles. Given the similarities in the mechanisms that increase AMH levels in both cryptorchid and non-cryptorchid testicles affected by testicular degeneration, this study recommends using AMH as a marker for diagnosing testicular degeneration in dogs. [ABSTRACT FROM AUTHOR]

Aim Methods Results Conclusions Evidence‐based guidelines do not recommend imaging in cryptorchidism, but anecdotally most referrals include an ultrasound report. We aimed to assess the frequency, utility and burden of imaging in children referred with presumptive disorders of testicular descent, and to assess trends over a 7‐year period before and after local and international guidelines have been introduced.This was a prospective cohort study of children referred to the Queensland Children's Hospital for anomalies of testicular descent between 2015–2017 and 2023–2024. Data were collected regarding demographics, referral details, imaging performed and surgical diagnosis.A total of 268 children were recruited. Ultrasound frequency has not significantly changed over time (72.8%, 2015–2017; 63.6% 2023–2024; P = 0.11). Currently, 17.6% of families are charged, and 31.9% need to take time off work, for the ultrasound. This is a significant increase from the 2015–2017 cohort. Parents report concern and anxiety, and find it traumatic for their child. Following review, the majority (65.7%) had physiologically normal testes, while 4.9% and 22.4% were diagnosed with bilateral or unilateral cryptorchidism, respectively, and 7.0% had other diagnoses. Ultrasound was concordant with the surgical diagnosis in 25.0% (2015–2017) and 30.7% (2023–2024). Ultrasound did not contribute to diagnosis nor management in any patient.Despite international and local guidelines, cryptorchid children continue to undergo ultrasound prior to referral. Such ultrasounds do not provide utility, or value for cost. We recommend avoiding their routine use for suspicion of testicular maldescent and working together to improve strategies for translating evidence‐based guidelines into clinical practice. [ABSTRACT FROM AUTHOR]

Background: Telocytes (TCs) is a novel type of interstitial cells in many mammals organs, which participate in the organizational metabolism, mechanical support, immunomodulation and other aspects. The aim of this study was to explore the organizational chemical characteristics of TCs in pituitary gland and their changes in cryptorchid yaks. Methods: Transmission electron microscopy (TEM), toluidine blue staining, immunofluorescence, qRT-PCR, and Western blotting may enable us to understand TCs distribution characteristics and biological functions. Result: TEM confirmed the presence of TCs in the pituitary gland with small bodies and moniliform telopodes (Tps). The Tps extending out from the cell body to the peri-sinusoidal vessels spaces, the number of Tps is closely related to the morphology of the nucleus. The most obvious changes of TCs in the pituitary gland of cryptorchid yaks is the Tps are relatively shorter and decreased secretory vesicles. H.E. and toluidine blue staining revealed that TCs not only distributed between the sinusoidal blood vessels and the glandular cell clusters, but also present on the surface of vascular endothelial cells. The co-expression of TCs biomarkers, such as Vimentin/CD34, CD117/CD34 and α-SMA/CD34, were evaluated by immunofluorescence to further determine the phenotypic characteristics of TCs. Besides, we analyzed the mRNA and protein expression of these biomarkers to determine the characteristics of TCs changes and possible biological roles. Both the mRNA and protein expression of CD117 were significantly higher in the pituitary gland of cryptorchid yaks than in the normal (p < 0.01), the protein expression of CD34 in the cryptorchid yaks was significantly higher than the normal (p < 0.01). There were no significant difference in mRNA expression of Vimentin and α-SMA (p>0.05), while the protein expression were significantly increased in the normal yaks (p < 0.05). Conclusions: In summary, this study reports for the first time that the biological characteristics of TCs in yak pituitary gland. Although there is no significant change in the distribution characteristics, the changes in biological features of TCs in cryptorchid yaks are clear, suggesting that TCs participated in alteration in the local microenvironment of the pituitary gland. Therefore, our study provides clues for further investigating the role of TCs in the pituitary gland during the occurrence of cryptorchidism in yaks. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Introduction The aim of this study was to assess the adherence to the European Association of Urology (EAU)/European Society for Pediatric Urology (ESPU) 2016 guidelines in the management of undescended testes (UDT). Materials and Methods An online questionnaire was sent in 2023 to members of the European Paediatric Surgeons' Association (EUPSA). Results Among 157 members, 46 and 44% perform orchidopexy before 12 and 18 months, respectively. In total, 92% recommend conservative management of retractile testes and 58% offer close follow-up. In case of nonpalpable testes, 78% favor laparoscopy and 18% ultrasonography. If a peeping testicle is identified at laparoscopy, 76% perform a single-stage orchidopexy. In case of a high testicle, a staged procedure is preferred (84%). Management of blind-ending spermatic vessel is heterogenous with a majority ending the operation, followed by exploration of the inguinal canal and removal of the testicular nubbin with optional fixation of the contralateral testis. Only a minority recommends hormonal therapy to improve fertility potential in bilateral UDT. A majority (59%) discuss testis removal in UDT in postpubertal boys. In addition, 77% declare following the EAU/ESPU guidelines. Unawareness of guidelines was the most common reason cited for nonadherence. International guidelines were found to have the greatest influence on clinical practice; however, personal experience and institutional practice seem to play an important role. Conclusion Most recommendations of the EAU/ESPU guidelines are being followed by EUPSA members; however, personal and institutional practice impact decision making. Hormonal therapy in bilateral UDT, management of vanishing testes, and UDT in postpubertal boys could be improved. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. 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. 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). 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. https://irct.ir/trial/58842. [Display omitted] [ABSTRACT FROM AUTHOR]

When evaluating the timeliness of orchiopexy for cryptorchidism, health disparities are apparent among Hispanic and African American males and those with public insurance. Since the publication of these data, the COVID-19 pandemic has stressed our healthcare system and significantly affected the provision of pediatric urology care. We sought to assess if certain groups were disproportionately affected in progression to orchiopexy after the diagnosis of cryptorchidism during and after the pandemic in US freestanding children's hospitals. Using the PHIS database, pediatric patients ≤5 years who underwent orchiopexy between January 2018 and December 2022 were retrospectively analyzed. Exclusion criteria included prematurity, retractile testes, and testicular torsion. Primary outcomes were age at orchiopexy and the proportion of individuals undergoing timely orchiopexy for cryptorchidism. Over the study period 3140 patients ≤5 years old underwent orchiopexy for cryptorchidism. Non-Hispanic Blacks and Hispanics were significantly less likely to have timely orchiopexy and underwent orchiopexy 2.13 and 3.60 months later compared to whites (p < 0.01). As compared to pre-COVID-19, during the pandemic the proportion of patients who had timely surgery was higher and the median age was significantly lower (p = 0.01 and p < 0.01, respectively) in white patients only. Over the study period, patients with public insurance were less likely to have timely orchiopexy and underwent orchiopexy 2.94 months later (p < 0.01) than patients with private insurance. Compared to during the pandemic, post-pandemic a significantly lower proportion of publicly insured patients have since undergone timely orchiopexy (p = 0.04). Patients in the West were less likely to have timely orchiopexy and had a higher age at time of orchiopexy (p < 0.01) than other regions. However, in the West during the pandemic, the proportion of children who had timely surgery was higher compared to pre-and post-COVID-19 (p < 0.01). Overall, regardless of insurance status, race, or location, a significant proportion of patients did not undergo timely orchiopexy. During the pandemic white patients had a lower median age and an increased proportion underwent timely orchiopexy, despite the number of orchiopexies remaining constant. Disparities in the post-COVID-19 era have been further exacerbated for publicly insured patients, who a significantly lower proportion of have since undergone timely orchiopexy. Specific efforts are required across the United States to increase timely orchiopexy for all boys. Progression to timely orchiopexy remains low for all boys in the era surrounding COVID-19; certain groups appear to be more adversely affected. [Display omitted] [ABSTRACT FROM AUTHOR]

Melatonin plays a major role in regulating the sleep-wake cycle and enhancing testosterone production. We investigated the short-term effects of melatonin treatment for 14 consecutive days in the cryptorchidism model. We categorized experimental mice into Sham (S), Orchiopexy (O), Melatonin (Mel), and Orchiopexy + Melatonin (OMel) groups. Surgery involved inducing cryptorchidism in the left testis for seven days, followed by orchiopexy. The Mel group's testes did not descend, but they received melatonin injections after seven days of cryptorchidism. The OMel group underwent both orchiopexy and melatonin treatment. Both O and Mel groups exhibited decreased sperm and round-headed sperm in the epididymis. Significant increases were observed in the numbers of giant cells and negative Nectin-3 cells at p -value<0.05. The pattern of Cadm1 expression changed, and Nectin-2 and Nectin-3 co-expression was lacking in abnormal spermatids. Sertoli cell cytoplasm in both O and Mel groups exhibited autophagosomes and multivesicular bodies, which correlated with increased cyclooxygenase-2 expression. However, Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL)-positive cell numbers increased significantly in all treatment groups compared to the S group. Our study found that the combination of orchiopexy and melatonin positively influenced the expression of cell adhesion molecules (Cadm1, Nectin-2, and Nectin-3) involved in spermatogenesis, while reducing giant cells, autophagosomes, and apoptosis. [ABSTRACT FROM AUTHOR]

This article discusses the use of gonadotropin treatment as an alternative to surgery for adults with congenital hypogonadotropic hypogonadism (CHH) and cryptorchidism. CHH is a condition where there is a deficiency of certain hormones, leading to absent or incomplete puberty. Cryptorchidism, or undescended testis, is more common in individuals with CHH. The article presents three case studies of adult males with CHH and persistent cryptorchidism who were successfully treated with gonadotropin therapy. The findings suggest that this treatment can be a safe and effective alternative to surgery for correcting cryptorchidism in young adult males with CHH. Further research is needed to explore this treatment in larger patient groups. The report is authored by experts in the field and provides valuable insights for library patrons conducting research in this area. [Extracted from the article]

The increasing incidence of hypospadias and cryptorchidism, coupled with the widespread presence of endocrine-disrupting chemicals (EDCs), has raised concerns about the potential impact of these environmental factors on male urogenital development. This systematic review and meta-analysis aims to evaluate the association between maternal exposure to various EDCs and the risk of hypospadias and cryptorchidism. We conducted a comprehensive search of PubMed, Scopus, Web of Science, and Cochrane databases from inception until May 2024. We included case-control and cohort studies that examined the association between maternal EDC exposure and hypospadias or cryptorchidism, reporting adjusted odds ratios (aOR) or crude odds ratios (cOR). Data were extracted and pooled using a random effects model, and heterogeneity was assessed using the Q test and I-square statistics. The risk of bias was evaluated using the Newcastle–Ottawa Scale (NOS). A total of 48 studies were included in the systematic review, with 46 studies included in the meta-analysis. The pooled analysis revealed a significant association between maternal EDC exposure and an increased risk of hypospadias (aOR = 1.26, 95% CI: 1.18–1.35, p < 0.0001) and cryptorchidism (aOR = 1.37, 95% CI: 1.19–1.57, p < 0.001). Subgroup analyses showed that exposure to pesticides, phthalates, alkyl phenolic compounds (ALKs), and heavy metals significantly increased the risk of hypospadias. In contrast, polychlorinated biphenyls (PCBs) did not show a significant association. Significant associations were found with pesticide and PCB exposure for cryptorchidism, but not with phthalate, ALK, or heavy metal exposure. Maternal exposure to certain EDCs is associated with an increased risk of hypospadias and cryptorchidism in male children. These findings underscore the importance of addressing environmental and occupational exposures during pregnancy to mitigate potential risks. Further research is needed to elucidate the mechanisms by which EDCs affect urogenital development and to develop effective interventions to reduce exposure among vulnerable populations. [ABSTRACT FROM AUTHOR]

Abstract Background Telocytes (TCs) is a novel type of interstitial cells in many mammals organs, which participate in the organizational metabolism, mechanical support, immunomodulation and other aspects. The aim of this study was to explore the organizational chemical characteristics of TCs in pituitary gland and their changes in cryptorchid yaks. Methods Transmission electron microscopy (TEM), toluidine blue staining, immunofluorescence, qRT-PCR, and Western blotting may enable us to understand TCs distribution characteristics and biological functions. Result TEM confirmed the presence of TCs in the pituitary gland with small bodies and moniliform telopodes (Tps). The Tps extending out from the cell body to the peri-sinusoidal vessels spaces, the number of Tps is closely related to the morphology of the nucleus. The most obvious changes of TCs in the pituitary gland of cryptorchid yaks is the Tps are relatively shorter and decreased secretory vesicles. H.E. and toluidine blue staining revealed that TCs not only distributed between the sinusoidal blood vessels and the glandular cell clusters, but also present on the surface of vascular endothelial cells. The co-expression of TCs biomarkers, such as Vimentin/CD34, CD117/CD34 and α-SMA/CD34, were evaluated by immunofluorescence to further determine the phenotypic characteristics of TCs. Besides, we analyzed the mRNA and protein expression of these biomarkers to determine the characteristics of TCs changes and possible biological roles. Both the mRNA and protein expression of CD117 were significantly higher in the pituitary gland of cryptorchid yaks than in the normal (p 0.05), while the protein expression were significantly increased in the normal yaks (p

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. • Cryptorchid tomcats have higher serum AMH levels than castrated or intact tomcats, but more research is needed to detect age-related thresholds. • Elevated AMH levels correlate with reduced seminiferous tubule area and lower Johnsen scores, indicating testicular degeneration. • Retained feline testicles show increased AMH in interstitial space, suggesting a species-specific expression pattern. • High AMH in retained testicles suggests increased Leydig cell receptor interaction, possibly altering steroidogenic activity. [ABSTRACT FROM AUTHOR]

Abstract 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.

An 18-month-old male cat presented with pollakiuria and hematuria. It had experienced misty urination and dampness around the genital area since the age of three months. Physical examination displayed small preputial and urethral openings, and subcutaneous cryptorchidism. Blood tests revealed elevated levels of blood urea nitrogen, creatinine, potassium, and phosphate. Radiography revealed a distended bladder. Castration and perineal urethrostomy were conducted to correct subcutaneous cryptorchidism and relieve urinary incontinence due to meatal stenosis and phimosis. Normal postoperative urination was observed; no complications were reported during the follow-up. This case highlights the successful surgical intervention of meatal stenosis concurrent with phimosis.

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. [ABSTRACT FROM AUTHOR]

Spermatogonial stem cells (SSCs) are essential for the maintenance of male fertility and survival of species. Environmental conditions, notably heat stress, have been identified as important causes of male infertility and have a negative impact on SSCs. Animals with cryptorchid testes (CT) are optimal models for the study of long-term heat stress-related changes in germ cells. The effect of heat stress on germ cells differs depending on the spermatogenesis stage. Thus, verifying whether the specific phase of spermatogenesis is dependent or independent of heat stress in stallions is important. We evaluated the heat stress-related response of SSCs by comparing the relative abundance of mRNA transcripts and expression patterns of the undifferentiated embryonic cell transcription factor 1 (UTF-1) and deleted in azoospermia-like (DAZL) in the seminiferous tubules of CT and normal testes (NT) of stallions using reverse transcription-quantitative polymerase chain reaction (RT-qPCR), immunofluorescence, and western blotting. We also analyzed the relative abundance of mRNA of different proliferative markers, including minichromosome maintenance 2 (MCM2), marker of proliferation Ki-67 (MKI-67), and proliferating cell nuclear antigen (PCNA). Testicular tissues from four Thoroughbred unilateral cryptorchid postpubertal stallions were used in this study during the breeding season. The relative abundance of the mRNA transcripts of UTF-1 and MCM2 was significantly upregulated in the CT group than that of those in the NT group. In contrast, the relative abundance of the mRNA transcripts of DAZL was significantly downregulated in the CT group than that of those in the NT group. Western blot quantification showed that the relative intensity of UTF-1 protein bands was significantly higher, while that of DAZL protein bands was significantly lower in the CT group than in the NT group. Immunofluorescence studies showed that the number of germ cells immunostained with UTF-1 was significantly higher while immunostained with DAZL was significantly lower in the CT group than that in the NT group. The higher expression level of UTF-1 in the CT group shows that undifferentiated SSCs are not affected by long-term exposure to heat stress. These results also indicate that germ cells after differentiation phase are directly affected by heat-stress conditions, such as cryptorchidism, in stallions. • UTF-1 was found significantly higher and DAZL significantly lower in cryptorchid testes. • The undifferentiated SSCs are not affected by long-term exposure to heat stress. • The germ cells after differentiation phase are directly affected by heat-stress conditions. • Cryptorchid testes are optimal models for the study of long-term heat stress-related changes in germ cells. [ABSTRACT FROM AUTHOR]

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. 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. [ABSTRACT FROM AUTHOR]

Aim: To assess testicular volume at puberty for boys who underwent orchidopexy at 9 or at 36 months compared to boys with spontaneous postnatal descent. Methods: At age 6 months, boys with congenital unilateral cryptorchidism were randomised to surgery at 9 or 39 months of age and followed to 16 years in parallel with boys with spontaneous postnatal descent. Ultrasound was done at 11 and 16 years to determine testicular volume. The ratio of the initially undescended testis to its scrotal counterpart was used to assess testicular growth. Results: At age 16, the ratio was lower (p < 0.00) in the late group compared to the early group. At 16 years, the spontaneously descended testes were significantly smaller than their scrotal counterparts but larger than the operated groups (early p < 0.01 and late p < 0.00). Conclusion: Our data at 16 years show that orchidopexy at 9 months results in better testicular growth compared to 3 years but did not reach the corresponding volumes of their scrotal counterparts. This indicates that earlier surgery is beneficial to testicular growth. At age 16, the postnatally descended testes were not only larger than the surgically treated testes but also exhibited impaired testicular growth. [ABSTRACT FROM AUTHOR]

Cryptorchidism and testicular torsion (TT) are relatively common conditions in clinical practice; however, sparse information about cryptorchid TT is available in the current literature. We retrospectively reviewed the clinical characteristics, treatment modalities, and long-term outcomes of pediatric patients treated for acute cryptorchid TT. We found eight patients with unilateral acute cryptorchid TT with a prevalence of 8.9% (8/90) among all TT cases. The left testis was affected in six patients. The median age of patients at the time of the surgery was 65 months (interquartile range (IQR) 4–136 months). The median duration of symptoms was 16 h (IQR 9–25 h), while the median time to treatment was 60 min (IQR 59–63 min). The most common symptoms were pain (abdominal and inguinal) and inguinal mass with no palpable testis in the ipsilateral hemiscrotum. Preoperative color Doppler ultrasonography revealed absent or decreased testicular blood flow in the affected testes in 7/8 of patients. Various degrees of testicular torsion (median 540°, min 360°, max 1260°) were found during surgery. A necrotic testis that led to orchidectomy was found in 4/8 of patients. The median follow-up period was 42.6 months (IQR 12.5–71.2 months), revealing only one patient with testicular atrophy. The final testicular salvage rate was 35%. Greater awareness among caregivers and primary care physicians about acute cryptorchid TT is required to improve their timely diagnosis and treatment. A physical examination of the external genitalia and inguinal regions should be mandatory to attain a proper diagnosis and treatment without delay. [ABSTRACT FROM AUTHOR]

There are 3 physiological waves of central hypothalamic-pituitary-gonadal (HPG) axis activity over the lifetime. The first occurs during fetal life, the second—termed "mini-puberty"—in the first months after birth, and the third at puberty. After adolescence, the axis remains active all through adulthood. Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by a deficiency in hypothalamic gonadotropin-releasing hormone (GnRH) secretion or action. In cases of severe CHH, all 3 waves of GnRH pulsatility are absent. The absence of fetal HPG axis activation manifests in around 50% of male newborns with micropenis and/or undescended testes (cryptorchidism). In these boys, the lack of the mini-puberty phase accentuates testicular immaturity. This is characterized by a low number of Sertoli cells, which are important for future reproductive capacity. Thus, absent mini-puberty will have detrimental effects on later fertility in these males. The diagnosis of CHH is often missed in infants, and even if recognized, there is no consensus on optimal therapeutic management. Here we review physiological mini-puberty and consequences of central HPG axis disorders; provide a diagnostic approach to allow for early identification of these conditions; and review current treatment options for replacement of mini-puberty in male infants with CHH. There is evidence from small case series that replacement with gonadotropins to mimic "mini-puberty" in males could have beneficial outcomes not only regarding testis descent, but also normalization of testis and penile sizes. Moreover, such therapeutic replacement regimens in disordered mini-puberty could address both reproductive and nonreproductive implications. [ABSTRACT FROM AUTHOR]

Background Objective Materials and methods Results Conclusion 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.This study aimed to delineate the prevalence pattern of cryptorchidism in Chinese population over the past 15 years using nationwide surveillance data.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.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.Despite lower rates compared to other countries, the increasing trend in prevalence of cryptorchidism necessitates further investigation and intervention. [ABSTRACT FROM AUTHOR]

Background: Acquired cryptorchidism or acquired undescended testis (UDT) is defined as the displacement of a testicle outside the scrotal sac after normal descent has been verified. There are still no clear guidelines on its management. Objectives: To analyze patients who underwent surgery for UDT in our setting to determine the prevalence of acquired cryptorchidism and to analyze the demographic and clinical characteristics of the population of children diagnosed with both acquired and congenital cryptorchidism, the age of presentation of both entities and the percentage of bilateral involvement. Materials and methods: This was a retrospective descriptive study using data from the clinical history of patients who underwent surgery for cryptorchidism between 2011 and 2022. The type of cryptorchidism, acquired or congenital, was recorded. Demographic and clinical data were collected. Results: A total of 367 patients and 442 testicular units were included in the study (75 patients had bilateral involvement). In 54.75% (95% CI: 50.09%–59.40%) of the cases analyzed, cryptorchidism was acquired, and the mean age at the time of surgery was 7.39 years (SD 2.95). Twenty percent (95% CI: 16.29%–24.58%) of the patients presented with bilateral cryptorchidism and 64% (95% CI: 52.88%–75.11%) out of them were acquired on both sides. The diagnosis was metachronous in 42.6% (95% CI: 31.21%–54.12%) of bilateral cryptorchidism cases. Discussion and conclusion: Acquired cryptorchidism accounts for more than half of cryptorchidism cases requiring surgery in our setting, with a clearly different age of presentation than that for congenital cryptorchidism. Therefore, it is necessary to monitor the presence of the testes in the scrotal sac until adolescence. It is also important to monitor patients with a history of cryptorchidism, not only for the management of the operated testicle but also for the early identification of patients who will develop metachronous contralateral cryptorchidism. [ABSTRACT FROM AUTHOR]

The American Urological Association guidelines recommend against the performance of ultrasound and other imaging modalities in the evaluation of patients with cryptorchidism before expert consultation. We aimed to examine our institutional experience with cryptorchidism and measure adherence to currently available guidelines. An institutional review board–approved retrospective review of ultrasound utilization in the evaluation of patients with cryptorchidism was performed from June 1, 2016, to June 30, 2019, at a single tertiary level pediatric hospital. We identified 1796 patients evaluated in surgical clinics for cryptorchidism. Surgical intervention was performed in 75.2% (n = 1351) of the entire cohort. Ultrasound was performed in 42% (n = 754), most of which were ordered by referring physicians (91% n = 686). Of those who received an ultrasound, surgical intervention was performed in 78% (n = 588). Those 166 patients (22%) who did not undergo surgical intervention were referred with ultrasounds suggesting inguinal testes; however, all had normal physical examinations or mildly retractile testes at the time of consultation and were discharged from the outpatient clinic. There were 597 patients referred without an ultrasound, 81% (n = 483) were confirmed to have cryptorchidism at the time of specialist physical examination and underwent definitive surgical intervention, the remainder (19%, n = 114) were discharged from the outpatient clinics. Ultrasound evaluation of cryptorchidism continues despite high-quality evidence-based guidelines that recommend otherwise, as they should have little to no bearing on the surgeon's decision to operate or the type of operation. Instead, physical examination findings should guide surgical planning. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to compare the clinical outcomes of two surgical approaches, laparoscopic-assisted scrotal incision and conventional inguinal–scrotal incision, for treating cryptorchidism with unobliterated processus vaginalis. Methods: Clinical data from 60 pediatric patients with inguinal cryptorchidism who were admitted to our institution between January 2018 and January 2022 were retrospectively analyzed. Depending on the surgical technique used, the patients were split into two groups: the laparoscopic group (n = 30) underwent a laparoscopic-assisted scrotal incision, whereas the conventional group (n = 30) underwent a conventional inguinal–scrotal incision for testicular descent and fixation. The length of the procedure, intraoperative blood loss, and the typical hospital stay following the procedure were compared between the two groups. Also assessed was the frequency of postoperative complications including wound infection and hematoma development. Results: The laparoscopic group demonstrated a notably shortened average surgical duration compared with the traditional group, and this discrepancy held statistical significance (P = .017). Moreover, the laparoscopic approach resulted in a reduced volume of intraoperative blood loss, with a statistically significant distinction (P = .002), along with a decreased average length of hospital stay after surgery, also statistically significant (P = .009). Testicular retraction, atrophy, inguinal hernias, or hydrocele were not present in any group. Although the difference between the laparoscopic and open groups was not statistically significant (P > .05), the laparoscopic group saw a reduced frequency of scrotal hematoma. The frequency of wound infection was also decreased in the laparoscopic group compared with the open group, although there was no statistically significant difference (P > .05). Conclusion: The laparoscopic-assisted scrotal incision approach for testicular descent and fixation offers precise localization of cryptorchidism, reduced surgical trauma, shorter postoperative recovery time, and results in smaller scars with minimal tissue damage. The procedure showcases enhanced overall clinical effectiveness, fewer postoperative complications, heightened safety, and superior cosmetic outcomes. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Purpose: Cryptorchidism is a well-defined risk factor for testicular germ cell tumors, whereas the underlying mechanisms have not been fully elucidated. Surgical procedures to reposition undescended testicles into the scrotum (orchidopexy) in early childhood are recommended both to increase fertility potential and to reduce the risk of developing testicular tumors. However, treatment in the post-pubertal period is controversial. The aim of this study is to review the histopathology of orchiectomy specimens and determination of spermatogenesis in post-pubertal patients with non-treated cryptorchidism. Methods: Retrospective chart review was performed to assess the occurrence of TGCTs and determine spermatogenesis in post-pubertal individuals who underwent inguinal orchiectomy for undescended testis between January 2010 and December 2019. Age at the time of surgery, laterality, location of the undescended testis and pathology results were evaluated. All pathology specimens were reviewed by a blinded pathologist. Results: There were 23 patients in the cohort with a mean age of 21 years (range 13–46 years). All testes were in the inguinal canal. Our results indicated that 1 patient had seminoma. In the histological evaluation of the remaining 22 patients in whom no tumor was detected, normal spermatogenesis was not observed in any patient. Further, seminiferous tubules were not found in 19 patients. Maturation arrest was detected in the remaining 3 patients. Conclusion: Testicular germ cell carcinoma was found in 4% of the patients who underwent post-pubertal orchiectomy. In addition, none of the undescended testes had normal spermatogenetic activity. Thus, orchiectomy should be considered in post-pubertal males with unilateral undescended testis that do not need the endocrinological activity of the testis. [ABSTRACT FROM AUTHOR]

Background: The 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. Methods: We 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. Results: Overall, 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. Conclusion: Even 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. [ABSTRACT FROM AUTHOR]

Summary Background Objective Study design Methods Results Main limitations Conclusions There is limited information regarding cryptorchid teratomas other than a few case report studies, and almost all involved standard‐frame horse breeds.To investigate the prevalence of testicular teratoma in horses presented for cryptorchidism and to determine its relationship with horse breeds.Retrospective case series.Medical records from all horses presented for cryptorchidism that underwent surgical cryptorchidectomy between January 2010 and August 2021 in a single institution were reviewed. Additionally, cryptorchid horses with a histopathological diagnosis of testicular teratoma were further analysed.Cryptorchidectomy was performed in 220 horses (253 testicles: 187 unilateral and 33 bilateral). Left abdominal cryptorchidism was the most common presentation (101/187, 54%), followed by right abdominal (37/187, 20%) and then, right (27/187, 14%) and left (22/187, 12%) inguinal. A teratoma was confirmed via histopathology in two Draughts, one Draught‐related breed (Canadian horse) and one Paint. Unfortunately, a pre‐operative diagnosis of teratoma was not reached in 3/3 horses where only routine caudal ultrasonography was performed. Draught and draught‐related breeds represented 6% (2219/36,857) of the hospital caseload during the study period and 11% (24/220) of the entire cryptorchid population. Draught and draught‐related breeds had a 37.1 relative risk ratio of having a cryptorchid teratoma (95% CI: 7.85–175.73) in this study. However, this may have been coincidental or specific to our geographic location given the small number of affected cases.Retrospective nature of the study, small population of horses, one institution and by extent one geographical location.We found that cryptorchid teratomas are encountered with a high prevalence in our draught and draught‐related breed caseload. A thorough pre‐operative ultrasound, including cranio‐ventral abdomen, may be recommended in cryptorchids to facilitate identification of large teratomas lying cranially within the abdomen as well as surgical planning. [ABSTRACT FROM AUTHOR]

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. 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. [ABSTRACT FROM AUTHOR]

A 1‐year‐old European shorthair male cat with a normally developed penis was subjected to genetic, endocrinological and histological studies due to unilateral cryptorchidism. The blood testosterone level was typical for males, while the level of anti‐Mullerian hormone (AMH) was very low. Surgical removal of internal reproductive organs was followed by a histological study, which revealed inactive testicles with neoplastic changes and derivatives of Mullerian ducts. Cytogenetic analysis showed a normal XY sex chromosome complement and molecular analysis confirmed the presence of Y‐linked genes (SRY and ZFY). Although the level of AMH was low, two normal copies of the AMH gene were found using droplet digital PCR (ddPCR). Analysis of the coding sequences of two candidate genes (AMH and AMHR2) for persistent Mullerian duct syndrome (PMDS) in the affected cat and in control male cats (n = 24) was performed using the Sanger sequencing method. In the affected cat, homozygosity was found for three novel missense variants in Exon 1 (one SNP) and Exon 5 (two SNPs) of AMH, but the same homozygous genotypes were also observed in one and two control cats, respectively, whose sex development was not examined. Three known synonymous variants with homozygous status were found in AMHR2. We conclude that the DNA variants identified in AMH and AMHR2 are not responsible for PMDS in the affected cat. [ABSTRACT FROM AUTHOR]

Simple Summary: Management of breeding stallions is crucial to equine reproduction. The long-life use of a stallion for a breeding career is the ultimate objective, whether it happens through natural mating or through semen collection and artificial insemination. Stud farm veterinarians should be aware of the techniques used to evaluate testicular function and the diagnostic approach to testicular disorders in cases of emergency. This paper presents the clinical methods used to assess testicular health, including palpation, ultrasonography, biopsy, and fine-needle aspiration. The discussion of testicular disorders is broken down into four categories: congenital (present at birth) disorders (cryptorchidism, monorchidism, and testicular hypoplasia), differential diagnosis of scrotal enlargement, differential diagnosis of causes of progressive testicular enlargement, and differential diagnosis of testicular asymmetry or reduction in size with an emphasis on testicular degeneration. Severe clinical signs often accompany a sudden increase in testicular size and are a major cause of stallions being referred for surgery. Testicular disorders are illustrated with clinical cases seen by the authors. Management of breeding stallions is crucial to equine reproduction. The longevity of the breeding career is the ultimate objective, whether the stallion is used for natural cover or for semen collection and artificial insemination. Stud farm veterinarians should be aware of the techniques used to evaluate testicular function and the diagnostic approach to testicular disorders in cases of emergency. This paper presents the clinical methods used to evaluate testicular health, including palpation, ultrasonography, biopsy, and fine-needle aspiration. The discussion of testicular disorders is broken down into four categories: congenital disorders (cryptorchidism, monorchidism, and testicular hypoplasia), differential diagnosis of scrotal enlargement, differential diagnosis of causes of progressive testicular enlargement, and differential diagnosis of testicular asymmetry or reduction in size with an emphasis on testicular degeneration. The sudden increase in testicular size is often accompanied by severe clinical signs and is a major cause for referral of stallion for surgery. Testicular disorders are illustrated with clinical cases seen by the authors. [ABSTRACT FROM AUTHOR]

IntroductionThe increasing prevalence of infertility in male dogs in clinical practice mirrors current trends seen in human medicine. Acquired infertility is notably more common in dogs compared to congenital causes, with conditions such as testicular degeneration leading to irreversible loss of fertility. Current diagnostic methods for testicular degeneration, such as histopathological and cytological examinations, rely on testicular biopsy or fine needle aspiration, making them less feasible for routine use. Anti-Müllerian hormone (AMH), produced by Sertoli cells, has emerged as a potential alternative biomarker for testicular health, which can be measured in serum. This study evaluates AMH as a potential marker for testicular degeneration, using cryptorchid dogs as models for impaired fertility and altered testicular histology.MethodsThe relationship between serum AMH levels and AMH tissue expression with impaired spermatogenesis and altered histology was investigated. Serum AMH levels were determined in intact, cryptorchid, and castrated individuals using an immuno-enzymatic ELISA kit and compared between subgroups based on testicular location. Tissue AMH immuno-expression was differentially quantified in two regions of interest (ROIs), the interstitial space and the seminiferous tubule, in both descended and retained gonads. Furthermore, testicles were analyzed using histomorphometric analysis in seminiferous tubules, while spermatogenesis was evaluated using the Johnsen score.ResultsSerum AMH levels were positively correlated with AMH expression assessed in both interstitial space (ρ = 0.494, p ≤ 0.01) and seminiferous tubules (ρ = 0.610, p ≤ 0.001). Conversely, serum AMH levels showed a negative correlation with the seminiferous tubule area (ρ = −0.435, p ≤ 0.05). Smaller seminiferous tubule areas were linked to increased AMH reactivity in both seminiferous tubules (ρ = −0.774, p ≤ 0.001) and interstitial space (ρ = −0.725, p ≤ 0.001). Additionally, lower Johnsen scores were associated with higher serum AMH levels (ρ = −0.537, p ≤ 0.01) and elevated AMH expression in both seminiferous tubules (ρ = −0.756, p ≤ 0.001) and interstitial space (ρ = −0.679, p ≤ 0.001).DiscussionOur results suggest that higher serum levels and tissue expression of AMH are linked to smaller seminiferous tubules and poorer Johnsen scores, reflecting degenerative changes and Sertoli cell dysfunction in retained testicles. Given the similarities in the mechanisms that increase AMH levels in both cryptorchid and non-cryptorchid testicles affected by testicular degeneration, this study recommends using AMH as a marker for diagnosing testicular degeneration in dogs.

Summary: 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.

Purpose: Patients with non-palpable testes has numerous treatment options, the most effective treatment is still controversial. Laparoscopy has nowadays gained the trust as the most reliable modality for the management of impalpable testis. The aim of our study was to retrospectively analyse the laparoscopic and open orchidopexy procedures and report the outcome of our series. Material and methods: 120 patients with 130 non palpable testes with a mean age of patients about 2.7 years who had undergone orchidopexy by open and laparoscopic methods over past 8 years. Results: Mean age of open group was similar to laparoscopic group (2.7 ± 1.7 vs 2.5 ± 1.5 years; p > 0.05). 10 patients (8.33%) presented with bilateral non palpable testes. 10 testes from the open group and 8 from the laparoscopic group were of vanishing variety. Fowler -Stephens staged procedure was done for 4 testes in laparoscopic group. The mean operative time was more in the laparoscopic group than the open (63min vs 47min). Laparoscopic orchidopexy group had generally lesser use of analgesics. The mean hospital stay between the open and laparoscopic groups was 2.1 vs 1.3 days (p

Abstract Background This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. Case Presentation The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation. Discussion and conclusions Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.

ABSTRACT In 2007 the Nordic group came to the following unanimous conclusions: In general, hormonal treatment is not recommended, considering the poor immediate results and the possible long-term adverse effects on spermatogenesis. Thus, surgery is to be preferred. However, defective mini puberty inducing insufficient gonadotropin secretion is one of the most common causes of nonobstructive azoospermia in men suffering from congenital isolated unilateral or bilateral cryptorchidism. The extent of alteration in the unilateral undescended testis correlate with the contralateral descended testis, indicating that unilateral cryptorchidism is a bilateral disease. Idiopathic central hypogonadism explains the phenomenon of defective mini puberty in otherwise healthy cryptorchid boys. We therefore recommend hormonal treatment for cryptorchid boys with defective mini puberty. Gonadotropin releasing hormone agonist (GnRHa) treatment following surgery to correct cryptorchidism restores mini puberty via endocrinological and transcriptional effects and prevents adult infertility in most cases. Several genes are important for central hypogonadotropic hypogonadism in mammals, including many that are transcribed in both the brain and testis. At the molecular level, there is no convincing evidence that heat shock is responsible for the observed pathological testicular changes. Thus, impaired transformation of gonocytes is not the result of temperature stress but rather a hormonal imbalance. Cryptorchidism should therefore be considered a serious andrological problem that cannot be successfully treated by early orchidopexy alone.