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Cryptorchidism, the absence of one or both testicles in the scrotum, is the most common anomaly of genitourinary tract in males. The pathogenesis of undescended testes is unknown however the role of inflammation, tissue remodeling and oxidative stress is postulated. The aim of this study was to explore the role of HSP-70, MMP-3, MMP-17 and IL-8 in possible pathogenic pathways connected with cryptorchidism. Cryptorchid patients with high scrotal and inguinal canal localization were included. The study group consisted of 63 patients aged 12–24 months, whereas the control group included 17 healthy infants with the same demographic characteristics. The analysis of plasma samples was carried out using ELISA enzyme-linked immunosorbent assay technique. The plasma concentration of MMP-17 in boys with cryptorchidism was significantly higher compared to the control group (p = 0.0365). The concentration of plasma IL-8, MMP-3, and HSP-70 in boys with cryptorchidism increased in comparison to the control group but these increases were not statistically significant (p > 0.05). A positive correlation was found between plasma MMP-17 and HSP-70 concentration (r = 0.5153; p < 0.0001). Our results demonstrate that MMP-17 and HSP-70 might be involved in pathogenesis of cryptorchidism and are in line with current knowledge that high temperature has a negative influence on male gonads. [ABSTRACT FROM AUTHOR]

ABSTRACT: Introduction: Transverse testicular ectopia (TTE) is an uncommon urological abnormality in children where both the gonads migrate toward the same hemi-scrotum. Herein, we describe five cases of children with TTE and their management at a tertiary care center. Materials and Methods: Five cases with complaints of inguinal hernia and undescended testis were presented to the department of pediatric Surgery at a tertiary care center have been taken up for the study. The history, investigations, surgical findings, and procedures were reviewed retrospectively. Case Summary: Of the five cases, one presented with irreducible inguinal hernia, two presented with unilateral hernia with contralateral undescended testis, and two presented with bilateral undescended testes. Inguinal herniotomy and transseptal orchiopexy were performed in all 5 cases. Three of the five cases were associated with persistent Müllerian duct syndrome (PMDS). Conclusion: In children with unilateral cryptorchidism and a contralateral descendent testis with an associated hernia, TTE should be suspected and ultrasonographic evaluation must be done to diagnose this condition before surgery. Transseptal orchiopexy is highly recommended to manage these cases especially when vasa deferentia are fused. In the case of PMDS, it is preferred to preserve Müllerian remnants. [ABSTRACT FROM AUTHOR]

ABSTRACT: Background: Untreated cryptorchid testes are in risk of intratubular germ cell neoplasia and subsequently may give rise to invasive germ cell tumors. Materials and Methods: Tissue samples were obtained from patients undergoing orchidectomy or orchiopexy and were subjected to routine histopathological and immunohistochemical examinations. Results: Forty-three patients were enrolled in this study out of which 30 samples were collected. The mean age of patients was 9.16 years. One case (6.7%) showed positivity of the germ cell neoplasia with anto placental alkaline phosphatase and Anto CD-117 positive. Other histopathological findings such as fibrocollagenous tissue and Leydig cell hyperplasia were reported. Conclusion: Early surgical management is of importance for a better outcome in cases of undescended testes. [ABSTRACT FROM AUTHOR]

Undescended testis and testicular torsion represent two frequent andrological diseases that affect the pediatric age. Despite these testicular disorders having different causes, they both negatively influence fertility in adulthood mainly due to the accumulation of reactive oxygen species (ROS), which represents the primary molecular damage underlying their long-term effects. The gold standard of treatment for both pathologies is surgery; however, it cannot guarantee an optimal fertility outcome in all clinical cases, underscoring the need to identify effective adjuvant therapies that may target the augmented ROS levels. For this aim, we investigated the pro-proliferative and anti-oxidant effects of PRP (platelet-rich plasma), a hemoderivative product used in regenerative medicine. We confirmed the increased oxidative status in testicular tissue by directly analyzing patients' biopsies with mass spectrometry and highlighting that three antioxidant proteins are significantly overexpressed compared to healthy testicles. Afterward, we in vitro treated cells derived from patients with cryptorchidism or testicular torsion with PRP, showing that it consistently decreases ROS levels and slightly induces cell proliferation. This study supports the potential use of PRP in patients with testis torsion or cryptorchidism, encouraging its future clinical application as adjuvant therapy to preserve the functionality of this organ by decreasing its ROS levels. [ABSTRACT FROM AUTHOR]

Background: Delayed presentation of cryptorchidism, or undescended testis (UDT), is still a common problem worldwide, despite the clear recommendations of most international guidelines for early referral and correction at 6–12 months of life. Identifying the underlying causes of this delayed presentation is an important step in overcoming this problem. . Objectives: To identify the causes and risk factors associated with delayed UDT presentation. Materials and methods: A cross-sectional study was conducted over 17 months, and included patients with UDT up to 14 years old age. Patients were divided into two groups according to their age at the time of presentation, early (≤ 1 year) and late (> 1-14 years) groups. The causes of delayed UDT presentation were identified in the late group. Both groups were compared regarding possible risk factors of delayed UDT presentation. Results: Of 204 cases with UDT, there were 121 (59.3%) patients presented beyond the recommended age of orchiopexy.. The main causes of delayed presentation were parental ignorance and unawareness in 43 (35.5%) patients, false advice from medical and nonmedical personnel in 17 (14.1%) and 28 (23.1%) patients, respectively, the presence of another medical disease in 18 (14.9%) patients, and poverty in 15 (12.4%) patients. Patients in the late group had a significantly less urbanized level of residency (P-value = 0.036), a lower maternal education level (P-value = 0.012), less parent information about UDT (P-value = 0.013), more likely to be first-born boys in their families (P-value = 0.036), and to have another medical disease(s) (P-value = 0.049). We found insignificant differences between the two groups regarding family history of UDT (P-value = 0.300), paternal education level (P-value = 0.288), side (P-value = 0.759), and site (P-value = 0.073) of UDT. Conclusion: Delayed presentation of UDT was attributed mainly to the limited knowledge of the community and medical care providers about its management. Increasing public awareness about UDT and establishing effective measures for earlier detection and referral of patients with UDT are important initial steps to solving this problem in our society. [ABSTRACT FROM AUTHOR]

Protamines (PRMs) and transition nuclear proteins (TNPs) are two key classes of sperm nuclear basic proteins that regulate chromatin reorganization and condensation in the spermatozoon head, playing crucial roles in mammalian spermatogenesis. In scrotal mammals, such as humans, cryptorchidism, the failure of the testes to descend into the scrotal sac is generally associated with higher rates of defective spermatozoon quality and function. However, ascrotal mammals, such as cetaceans, with naturally undescended testes, produce normal spermatozoa similar to their scrotal counterparts. This study investigates the evolutionary pattern and functional changes in PRMs and TNPs to explore the potential molecular mechanisms underlying spermatogenesis in naturally ascrotal mammals. Although we found a conserved genomic arrangement for PRM and TNP genes across mammals, the coevolutionary loss of intact PRM2 and TNP2 was observed in several species, correlating significantly with diverse testicular positions. Notably, in cetaceans, which lack intact PRM2 and TNP2 , we detected enhanced thermostability and DNA binding in PRM1, along with superior DNA repair capability in TNP1. These findings suggest that gene loss of PRM2 and TNP2 , combined with functional enhancements in PRM1 and TNP1 proteins, evolved in response to physiological challenges posed by natural cryptorchidism in most ascrotal lineages. This evolutionary strategy enhances chromatin condensation efficiency and promotes DNA repair during spermatogenesis in natural cryptorchid mammals, supporting the Black Queen Hypothesis. [ABSTRACT FROM AUTHOR]

Aim: 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. Methods: 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. Results: 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. Conclusions: 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: Male infertility is a widespread issue that many couples are dealing with. Medical practitioners have begun to use modern diagnostic methods such as transrectal ultrasonography (TRUS) and scrotal ultrasound (US) to better understand the reasons and potential remedies for this disease. With the aid of these imaging tools, the male reproductive system can be thoroughly examined to assess structural abnormalities and other acquired illnesses that may be contributing factors to infertility. AIM/OBJECTIVE: To identify the underlying causes of male infertility through the use of transrectal ultrasound (TRUS) and scrotal ultrasound, with a focus on emphasizing their diagnostic role. RESULTS: In our study encompassing 127 male participants aged between 22 and 70 years (mean age 38.11), 121 individuals presented with primary infertility, while 6 exhibited secondary infertility. Transrectal Ultrasound (TRUS) findings indicated a range of abnormalities, 20 unilateral seminal vesicle agenesis, 5 unilateral atrophic seminal vesicle, 5 bilateral seminal vesicle agenesis, 1 bilateral atrophic seminal vesicles, 4 seminal vesicle calculi, 2 vas deferens calculi, 2 testicular microlithiasis, 14 ejaculatory duct calculi, 1 ejaculatory duct stricture, 1 epidydymal head cyst, 16 prostatic cysts, 6 prostatitis and 57 normal studies. Among the 121 patients, 51 underwent scrotal ultrasound which revealed 13 normal, 24 varicoceles, 2 hydroceles, 1 spermatocele, 9 epidydymal cysts, 5 epidydymitis, 4 atrophic testis, 1 epidydymo-orchitis and 1 undescended testis. CONCLUSION: Ultrasounds of the scrotum and transrectum are crucial for identifying anomalies in male infertility that can be corrected. The likelihood of becoming a parent is increased by these imaging modalities, which also improve clinical assessments and guide treatment plans. [ABSTRACT FROM AUTHOR]

Background: Children undergoing outpatient surgery are at risk of inadequate postoperative pain control. Methadone has a long duration of action and an intraoperative dose may provide stable analgesia throughout the postoperative period. Intraoperative methadone has been shown to improve pain control in adolescents but its use for postoperative pain in pediatric patients undergoing outpatient surgery has not been studied before. Therefore, we conducted a double‐blind randomized placebo‐controlled trial to investigate the effects of a single dose of intraoperative methadone in children aged less than 5 years undergoing orchiopexy for undescended testis. Methods: A total of 68 children were randomized to receive either methadone (0.1 mg/kg) or isotonic saline following induction of anesthesia. Exclusion criteria included preterm birth, previous scrotal surgery, and parents' inability to consent. Primary outcomes were opioid requirements (first primary outcome) and pain intensity in the post‐anesthesia care unit. Secondary outcomes included episodes of desaturation and time until readiness to discharge from the post‐anesthesia care unit, sleep on the first postoperative night, pain intensity, and opioid requirements at home until the evening on the first postoperative day. Follow‐up was 4 days. Results: Sixty children completed the study (age, mean ± SD, 26.2 ± 13.9 months), 29 children received methadone, and 31 children received placebo. Eighteen children required opioids in the post‐anesthesia care unit, five children in the methadone group (proportion = 0.17, 95% confidence interval (CI): 0.07, 0.36) compared to thirteen patients in the placebo group (0.42, 95% CI: 0.26, 0.60) (mean difference = −0.24 and 95% CI: −0.03, −0.47) (p = 0.037). Five children in the methadone group (0.17, 95% CI: 0.03, 0.31) versus ten in the placebo group (0.32, 95% CI: 0.16, 0.49) had a face, legs, activity, cry, consolability score of ≥5 in the post‐anesthesia care unit (mean difference = −0.15, 95% CI: −0.36, 0.06) (p =.179). More children in the placebo group woke up due to pain the first night following surgery (seven children vs. one child). The methadone group had a longer stay in the post‐anesthesia care unit. There were no differences between the two groups regarding the other secondary outcomes. Conclusion: A single dose of intraoperative methadone reduces short‐term postoperative opioid requirements in children after orchiopexy for nondescended testes but prolongs the duration of their stay in the post‐anesthesia care unit. [ABSTRACT FROM AUTHOR]

Currently, there is limited evidence regarding the association between prenatal exposure to environmental fine particulate matter (PM2.5) and the occurrence of cryptorchidism. The objective of this study was to evaluate the potential correlation between prenatal exposure to PM2.5 and the likelihood of cryptorchidism developing in offspring. We performed a 1:1 case–control study, defining the cases as children diagnosed with cryptorchidism at the Children's Hospital Affiliated to Chongqing Medical University from 2013 to 2017, while the control group comprised children born in the corresponding years who did not have any birth defects, chromosomal abnormalities, and had only trauma-related treatments. Between 2012 and 2017, monthly averages of PM2.5, other pollutants (O3, PM10) and temperature were gathered based on the geographical coordinates of patients' residences. The study assessed the correlation between the two using multivariate logistic regression model, and sensitivity analysis was conducted to assess the stability of the model. We included a total of 2137 cases and 2137 matched controls from 2013 to 2017. Our findings revealed that there was a positive association between exposure to PM2.5 during the first 2 months of pregnancy and the occurrence of cryptorchidism. According to this study, the development of cryptorchidism appears to be associated with maternal exposure to PM2.5 during early pregnancy. [ABSTRACT FROM AUTHOR]

Cryptorchidism is a common cause of male infertility, often necessitating microdissection testicular sperm extraction (m-TESE) for sperm retrieval post-surgery. However, uncertainties persist regarding m-TESE outcomes and influencing factors following cryptorchidism surgery. A systematic review and meta-analysis were conducted to evaluate sperm retrieval rates (SRR) among patients undergoing m-TESE after cryptorchidism surgery. Factors including age at orchidopexy, age at m-TESE, type of cryptorchidism, serum hormone levels, testicular volume, and interval from surgery to m-TESE were analyzed for their impact on SRR.Nine studies encompassing 935 patients were included. The overall SRR was 57% (95% confidence interval [CI] 51% to 63%). Compared to patients with negative sperm retrieval (SR-), patients with positive sperm retrieval (SR+) underwent m-TESE at an older age (1.81 years; 95% CI 1.17 to 2.45) and orchidopexy at a younger age (-3.35 years; 95% CI -6.34 to -0.36). Different types of cryptorchidism (including high scrotal, inguinal canal, intra-abdominal) significantly influenced SRR (P<0.05). Serum testosterone, follicle-stimulating hormone, luteinizing hormone levels and testicular volume showed no significant correlation with SRR (P>0.05). Furthermore, SR- patients typically experienced shorter intervals from orchidopexy to m-TESE compared to SR+ patients (34.09 months; 95% CI 0.40 to 67.77). Earlier orchidopexy and much later m-TESE procedures, as well as undescended testis closer to the scrotum, increase the likelihood of successful sperm retrieval. Orchidopexy for cryptorchidism should be done as early as possible, whether it is performed before 18 months of age or detected at a much older age. In patients with undetected cryptorchidism and azoospermia after puberty, m-TESE should not be performed immediately after orchidopexy, the optimal interval from orchidopexy to m-TESE still requires further study. [ABSTRACT FROM AUTHOR]

Objectives: Hypospadias is the most common anomaly of the male genital system after undescended testis. More than 200 surgical repair techniques have been described for the treatment of hypospadias due to many different meatus localisations and other accompanying anomalies. Kutlay defined a new technique in 2010 with 10 patients with distal hypospadias patients. We compared this new technique with tubularized incised plate urethroplasty (TIP) which is one of the most frequently performed methods. Methods: 148 patients with hypospadias who underwent surgery at the Urology and Pediatric Surgery Clinic during the period of January 2010 to December 2022 in the first and 2nd clinic, were retrospectively analyzed. The study focused on the remaining 83 patients with distal hypospadias for the purpose of comparison. Results: The mean age of group one was 10.0 (± 6.9, range 2–27), while for group two it was 10.8 (± 5.9, range 3–23). There was no statistically significant difference between the two groups in terms of anatomical position of the meatus, stricture and fistula complications (p > 0.5). Conclusion: The Kutlay technique has been described as an easy-to-learn and feasible method with reliable results. No significant difference in complications was observed in this study compared with TIP, which is known as the standard technique worldwide. We would like to suggest that the method be considered for further evaluation with larger patient groups and different techniques. [ABSTRACT FROM AUTHOR]

Background: Testicular volume is a marker of male pubertal development. Various clinical conditions and their treatments may influence testicular growth. Objectives: To create ruler‐based age‐dependent pubertal testicular volume references that enable calculation of standard deviation (SD) scores. Materials and Methods: Study cohort comprised 65 boys who attended clinical examination twice a year from the age of 8.5 years until the attainment of final testicular size. Forty‐nine (75.4%) boys completed the follow‐up and 16 (24.6%) boys dropped out before the attainment of final post‐pubertal testicular size. At each follow‐up visit testicular size was measured with a ruler, orchidometer, and ultrasonography. LMS or LMSP method served as the technique for creating reference growth curves for testicular volumes. Using the novel references for ruler measurements, development of SD scores was assessed in a cohort of boys with unilateral cryptorchidism. Results: Reference growth curves were constructed separately for ruler, orchidometer, and ultrasonography measurements. Median orchidometer volume of 4 mL, marker of male pubertal onset, occurred at the age of 11.7 years, whereas +2SD curve surpassed 4 mL at 10.2 years and −2SD curve at 13.7 years. Modeled ages at the attainment of 4 mL testicular volume based on ruler measurements were 9.7 years for +2SD curve, 11.5 years for median curve, and 13.6 years for −2SD curve. Ultrasonography‐based volume of 1.3 mL corresponded with the median modeled orchidometer‐based volume of 4 mL. In boys with unilateral cryptorchidism, ruler‐based SD scores decreased during puberty in undescended testes, but not in descended testes. Discussion and Conclusion: The present study provides reference values for pubertal testicular volume measured with a ruler enabling an age‐dependent assessment of testicular size. Comparison with measurements by an orchidometer and ultrasonography is also presented. [ABSTRACT FROM AUTHOR]

Background: Testicular microlithiasis is the presence of small calcifications in the testicular parenchyma. The association between testicular microlithiasis and germ cell neoplasia in situ, a precursor to testicular cancer, is still unclear. Objectives: To determine the incidence of germ cell neoplasia in situ in men with testicular microlithiasis and evaluate the indication for testicular biopsy according to risk factors in the form of male infertility/reduced semen quality, testicular atrophy, and history of cryptorchidism. Materials and methods: This retrospective case series included all patients diagnosed with testicular microlithiasis who underwent testicular biopsies at three hospitals in Denmark between 2007 and 2021. The medical records of 167 patients were reviewed, and data on patient demographics, testicular microlithiasis characteristics, risk factors, histological findings, and treatments were collected. The main outcome measure was the incidence of germ cell neoplasia in situ in relation to each risk factor. The data were analyzed using descriptive statistics. Logistic regression was used to examine the odds ratio of germ cell neoplasia in situ in patients with testicular microlithiasis and testicular atrophy. Results: Germ cell neoplasia in situ was found in 13 out of 167 patients (7.8% [95% confidence interval: 4.3, 13.2]). Eleven of these had testicular atrophy resulting in a significantly higher incidence in this group than other risk factors (odds ratio 9.36 [95% confidence interval: 2.41, 61.88]; p = 0.004). Discussion: The study comprises the largest cohort to date of men who have undergone testicular biopsies because of testicular microlithiasis and additional risk factors. Limitations include its retrospective design, and relatively low absolute numbers of patients with germ cell neoplasia in situ on biopsies. Conclusion: This study found that men with testicular microlithiasis and testicular atrophy are at an increased risk of germ cell neoplasia in situ. Additionally, our results indicate that biopsies should be considered in men with a combination of subfertility and bilateral testicular microlithiasis. Our findings do not support testicular biopsies for men with testicular microlithiasis and other risk factors. [ABSTRACT FROM AUTHOR]

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]

Objective: To assess the effectiveness of diffusion-weighted magnetic resonance imaging (DW-MRI) in the detection of non-palpable undescended testis (NPUT) and to compare DW-MRI results with surgical findings. Methods: This descriptive, cross-sectional study was carried out at Dow Institute of Radiology, Dow University of Health Sciences. Karachi on a cohort of patients who underwent DW-MRI for suspected NPUT between 15th September, 2022 to 16th March, 2023. The study included 175 boys below the age of 16 years with history of clinically non-palpable testes. MRI scans were acquired using additional DWI sequence. Two radiology faculty of more than five years of experience independently evaluated the DW-MRI images for the presence or absence of testes in its normal anatomical position, abnormal location, side and size of testes. Results: Out of the 175 patients, DW-MRI successfully detected 128 (73.1%) non-palpable undescended testes. Statistical analysis in clinically detected cases of showed sensitivity of NPTU 0.8%, specificity of 92.5%, diagnostic accuracy 94.29%, positive predictive value 97.7%, and negative predictive value 84.1% for localizing undescended testes with Diffusion Weighted DW-MRI taking surgical findings as gold standard. Conclusion: DWI sequences complement the conventional MRI, increasing its sensitivity and diagnostic accuracy. By facilitating early and accurate diagnosis, DW-MRI has the potential to streamline patient management, reduce unnecessary surgical exploration, and ultimately improve the long-term reproductive health and quality of life for individuals with undescended testes. [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]

Introduction: Variants in genes that play a role in maintaining cellular redox homeostasis in adrenocortical cells may be associated with glucocorticoid deficiency, and it is unclear whether these cases may be associated with a wider phenotype. However, to date, only 1 case of a genetic variant in thioredoxin reductase type 2 (TXNRD2) in a South Asian kindred with familial glucocorticoid deficiency has been reported. Case Presentation: The index case was diagnosed with selective glucocorticoid deficiency at 10 years of age. He had a history of a small penis and a right undescended testis, which subsequently required an orchidopexy. The parents were of Pakistani origin and first cousins. The boy's gonadal function was normal and autosomal recessive missense homozygous variants p.Val361Met;Val361Met in TXNRD2 were identified in him by whole-genome sequencing. Functional studies were performed using peripheral blood mononuclear cells from the patient, unaffected parents, and four age-matched healthy boys. Compared to the carriers and controls, the case had lower TXNRD2 protein on immunoblotting using anti-TXNRD2 antibody (1.3-fold), 95% CI: 1.8 (1.5–2.1), lower mRNA expression of TXNRD2 on quantitative RT-PCR (1.6-fold), 95% CI: 1.1 (0.7–1.4), and a lower glutathione:oxidized glutathione ratio (6.7-fold), 95% CI: 2.0 (1.6–2.4). Conclusions: In addition to confirming the critical role that TXNRD2 serves in maintaining adrenal function, by reporting the findings of atypical genitalia, this case further extends the phenotype. Established Facts: Nicotinamide nucleotide transhydrogenase (NNT) and TXNRD2 genes play a role in maintaining cellular redox homeostasis in adrenocortical cells and have been identified as genetic causes of glucocorticoid deficiency with or without mineralocorticoid deficiency. To date, a single report of familial glucocorticoid deficiency in a South Asian kindred has been described to be associated with a genetic variant in TXNRD2. [ABSTRACT FROM AUTHOR]

Context Although the nutritional composition of organic food has been thoroughly researched, there is a dearth of published data relating to its impact on human health. Objective This systematic review aimed to examine the association between organic food intake and health effects, including changes in in vivo biomarkers, disease prevalence, and functional changes. Data Sources PubMed, EMBASE, Web of Science, the Cochrane Library, and ClinicalTrials.gov were searched from inception through Nov 13, 2022. Data Extraction Both observational and interventional studies conducted in human populations were included, and association between level of organic food intake and each outcome was quantified as "no association," "inconsistent," "beneficial correlation/harmful correlation," or "insufficient". For outcomes with sufficient data reported by at least 3 studies, meta-analyses were conducted, using random-effects models to calculate standardized mean differences. Data Analysis Based on the included 23 observational and 27 interventional studies, the association between levels of organic food intake and (i) pesticide exposure biomarker was assessed as "beneficial correlation," (ii) toxic metals and carotenoids in the plasma was assessed as "no association," (iii) fatty acids in human milk was assessed as "insufficient," (iv) phenolics was assessed as "beneficial", and serum parameters and antioxidant status was assessed as "inconsistent". For diseases and functional changes, there was an overall "beneficial" association with organic food intake, and there were similar findings for obesity and body mass index. However, evidence for association of organic food intake with other single diseases was assessed as "insufficient" due to the limited number and extent of studies. Conclusion Organic food intake was found to have a beneficial impact in terms of reducing pesticide exposure, and the general effect on disease and functional changes (body mass index, male sperm quality) was appreciable. More long-term studies are required, especially for single diseases. Systematic Review Registration PROSPERO registration no. CRD42022350175. [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. [Extracted from the article]

Background/Objectives: Hirschsprung's disease (HD) is a congenital disorder characterised by the absence of ganglion cells in the distal bowel, resulting in functional obstruction. The transanal endorectal pull-through (TEPT) procedure, a minimally invasive approach, aims to treat HD by removing the aganglionic segment. This study assessed the feasibility, safety, and efficacy of single-stage TEPT in paediatric patients, focusing on postoperative complications, bowel function, and quality of life. Methods: A retrospective cohort study was conducted on 150 children who underwent single-stage TEPT from January 2005 to December 2023 at the Medical University of Gdansk. Data were collected from medical records, including demographics, preoperative assessments, surgical details, postoperative management, and follow-up outcomes. Statistical analyses were performed using Microsoft Excel 365 and the programming language Python 3.12. The mean age at surgery was 13 months, with a male-to-female ratio of 2.75:1. The mean operative time was 129 min, and the mean hospital stay was seven days. Results: Postoperative complications included anastomotic leak (4%), wound infections (15%), and enterocolitis (26%). Redo surgeries were required in 18% of cases due to persistent constipation and obstructive symptoms. This article includes a comprehensive review of the literature. Conclusions: TEPT demonstrates a favourable safety profile and efficacy in treating HD, though significant concerns include complications such as enterocolitis and the need for additional surgeries. Surgical expertise and thorough preoperative and postoperative management are crucial to optimising patient outcomes. [ABSTRACT FROM AUTHOR]

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

Mutations in genes of the DNA polymerase complex have been linked to impaired immunological function next to distinct syndromic features. Biallelic mutations in PRIM1 are associated with a primordial dwarfism syndrome with variable hypogammaglobulinemia. The disease is mostly lethal in infancy due to pulmonary infections as well as hepatic cirrhosis. We studied 3 novel patients with PRIM1-deficiency with a focus on immunological consequences. All three shared dysmorphic features including a prominent forehead, triangular face and bilateral cryptorchidism. P1 carried the novel homozygous PRIM1 splice variant c.103+2T>G, allowing residual protein expression and associated with a mild clinical phenotype. P2 and P3 carried the known homozygous variant c.638+36C>G and died in infancy. Paradoxically, B cell lymphopenia was most pronounced in P1. No other significant lymphocyte abnormalities were detected. Interestingly, all 3 patients showed variable, but intermittently excessive Type I interferon signatures. In summary, the B-cell deficiency in PRIM1-deficiency is markedly variable and the severity of syndromic manifestations is not predictive of the immunological phenotype. We highlight a potential contribution of pathological type I interferon activation to disease pathogenesis which warrants further investigations. [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]

This study aimed to know the effect of cloves (Syzigium aromaticum) methanol extracts as an antioxidant on the germ cells of white rats (Rattus norvegicus) with induced cryptorchidism. The subjects of this study were 24 male white rats aged 21 days, who were divided into six groups. Rats were adapted for 5 days, after which cryptorchidism were induced. Cloves extract was given for 18 days and 36 days. On day-19 and day-37, rats were sacrificed and testicles were taken for Protein Gene Product (PGP) 9.5 detection by immunohistochemistry. These groups consisted of negative control group (given distilled water and sham surgery), positive control group (induction of cryptorchidism and given distilled water), and T treatment group (induction of cryptorchidism and given 70mg/kg bw cloves extract. Kruskal-Wallis test indicated a significant difference (p <0.05). The differences between treatments were shown based on the outcome of the Mann-Whitney test. Cloves acted as an antioxidant for cryptorchid testicular germ cells. It could be concluded that administering methanol extract of clove flowers could ameliorate the expression of PGP 9.5 in the testicular germ cells of white rats in a model of unilateral cryptorchidism. [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]

The article focuses on the impact of undescended testicles (UDT) as a cause of male infertility, specifically leading to non-obstructive azoospermia (NOA), and reports the first Canadian cases of spermatogenic recovery following bilateral orchidopexy. Topics include the classification of azoospermia, the surgical treatment of UDT and its potential to improve fertility, and two case reports of patients who showed recovery of sperm production post-surgery.

Joubert syndrome (JS) is a complex medical condition characterized by a pathognomonic midbrain-hindbrain malformation visible on brain imaging, which is known as the "molar tooth sign" (MTS). The presence of the MTS in the brain is the defining diagnostic criterion for JS. Individuals with JS commonly exhibit a developmental delay, hypotonia, and abnormal eye movements. In addition, neonatal breathing dysregulation is observed in about half of the cases. Midline brain defects associated with JS can lead to pituitary hormone abnormalities, thereby manifesting as multiple pituitary insufficiencies in the neonatal period, such as hypoglycemia and, in male patients, a micropenis with undescended testes. Although JS is a well-researched genetic condition, there is minimal information on the endocrinological aspects of JS. This manuscript aims to emphasize the spectrum of endocrinologic findings in JS through the retrospective evaluation of four cases characterized by combined pituitary dysfunctions, including secondary hypothyroidism, growth hormone deficiency, and panhypopituitarism. Highlighting these treatable aspects of JS is crucial, as continuous endocrinological monitoring can positively impact a patient's well-being, particularly in managing secondary adrenal and thyroid insufficiencies. [ABSTRACT FROM AUTHOR]

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. [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]

Context: Testicular regression syndrome (TRS), clinically termed "vanishing testes," is a condition with atrophy of testes in late fetal or early neonatal life. The spermatic cord ends blindly or into a small fibrovascular nubbin. Histopathology reveals a fibrovascular nodule with associated hemosiderin-laden macrophages and dystrophic calcification. Few cases show the presence of seminiferous tubules and germ cells. The presence of germ cells is associated with the risk of developing a testicular germ cell tumor. Aims: To study the histopathological features of testicular nubbins and to determine the presence of germ cells and associated neoplasm. Settings and Design: It is a retro-prospective observational study carried out on patients referred to a pediatric surgical pathology center in Miraj, who were clinically diagnosed with undescended testis, over a period of 1 year. Data were collected after the study was approved by the IEC-MGCH on December 19, 2022. Materials and Methods: Twenty patients diagnosed with cryptorchidism, undescended testis, or atrophic testis were included. Findings of hematoxylin and eosin-stained slides of each case were noted, and Prussian Blue (special staining) was performed in four cases. Statistical analysis used: As this is a descriptive observational study, simple arithmetic calculations were performed. No unique statistical analysis was performed. Results: Among twenty cases of vanishing testes syndrome, 20 cases showed fibrovascular tissue only, and 1 case showed the presence of seminiferous tubules with Sertoli cells. Conclusions: Vanishing testes syndrome is a rare condition that is difficult to diagnose on clinical examination, and a definitive diagnosis may be missed if the pathologist is unaware of the condition. Also, there is a risk of germ cell tumor if there are residual germ cells in the testicular nubbin. [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]

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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]

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]

Introduction We report a series of patients in three different Libyan families diagnosed with congenital myopathy to study the wide clinical variability between these families, and the genetic heterogeneity. Description of Cases We describe six patients, one patient presented with severe neonatal-onset RYR1-associated myopathy while the other five patients came mainly due to delay in motor development; genetic testing confirmed the diagnosis of CMY-1B disease due to RYR1 mutation in all patients. Clinical features of congenital widely varied between the families ranging from profound hypotonia during the neonatal period in one family to a motor delay and abnormal gait during childhood in other two families. Whereas the clinical picture is quite similar in the patients of same family, the patient who presented with severe neonatal presentation of RYR1-associated myopathy also had gastrostomy feeding, respiratory involvement, clubfeet, cleft palate, and undescended testes. The five patients who presented due to delay in motor development all were ambulatory without the need of support, except the youngest one aged 4 years still walking with support. The genetic study in the form of whole-exon sequencing as well as next-generation sequencing showed homozygosity of a gene mutation in five patients and a compound heterozygosity in one patient which presented with neonatal severe hypotonia. Conclusion CMY-1B disease is a rare autosomal dominant and recessive genetic disorder that has variable clinical presentations. The early diagnosis is very important for genetic counseling as well as avoiding malignant hyperthermia. We also report rare and unusual presentations that may further delay the diagnosis. [ABSTRACT FROM AUTHOR]

The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Hormone levels, clinical scores, anthropometric measurements, and molecular analysis were assessed in 24 individuals with CdLS. Hyperprolactinemia was the most common endocrine disorder. Three patients showed subclinical hypothyroidism. Concerning the gonadotropic axis, mildly delayed puberty was observed, as well as genital anomalies, such as cryptorchidism. Despite short stature, levels of insulin-like growth factor 1 and insulin-like growth factor-binding protein 3 tended to be normal. Three prepubertal individuals without risk factors had higher than normal values for the homeostatic model assessment of insulin resistance (HOMA-IR) and for insulinemia, suggesting insulin resistance. Furthermore, two adults had elevated body mass indexes associated with HOMA-IR values over the cut-off values. CdLS may lead to dysregulation of the endocrine system, particularly in patients with high HOMA-IR values and insulinemia who are at risk of insulin resistance. Therefore, clinical follow-up with comprehensive hormonal assessment appears warranted in individuals with CdLS. [ABSTRACT FROM AUTHOR]

A 2‐year‐old, male, neutered labrador retriever with a previous diagnosis of left renal agenesis and left cryptorchidism presented for investigation of mild intermittent urinary incontinence. Abdominal ultrasound, intravenous urography and retrograde positive‐contrast urethrocystography were performed, identifying an unusual fluid‐filled structure, confluent with the left side of the prostate gland. Histopathological diagnosis, following surgical excision, was an ectopic ureterocoele remnant. Urinary incontinence temporarily improved following surgery, but subsequently recurred. A presumptive diagnosis of urethral sphincter mechanism incompetence, in addition to the ectopic ureterocoele remnant was given. Dogs with renal agenesis typically have an absent ipsilateral ureter; however, this report demonstrates an ipsilateral ectopic ureterocoele remnant, a condition rarely reported in veterinary medicine. Multiple ipsilateral genitourinary deformities should be suspected and investigated in animals presenting with any urogenital developmental abnormality. Clinical significance of ectopic ureterocoele remnant in male dogs with urinary incontinence should however be carefully evaluated, and other causes (e.g., urethral sphincter mechanism incompetence) should be considered. [ABSTRACT FROM AUTHOR]

Background: Congenital inguinal hernia, hydrocele and undescended testis (UDT) are associated with patent processus vaginalis. The smooth muscles present in the processus vaginalis aid in the descent of the testis and undergo programmed cell death after testicular descent leading to obliteration. The persisting amount of smooth muscle in the processus vaginalis influences the clinical outcome as inguinal hernia, hydrocele or UDT. Therefore, a study was conducted to evaluate the processus vaginalis in these three conditions to observe the presence and phenotype of smooth muscle cells and the presence of myofibroblasts. Materials and methods: The processus vaginalis sacs in patients with inguinal hernia, hydrocele and UDT were examined using light microscopy for the presence and distribution of smooth muscle cells and immunohistochemical staining for vimentin, desmin, and α-smooth muscle actin (SMA) to identify the smooth muscle phenotype. Transmission electron microscopy was also performed in all the sacs to observe the presence of myofibroblasts. Results: Seventy-eight specimens of processus vaginalis (from seventy-four patients), distributed as 47%, 27%, and 26% as inguinal hernia, hydrocele and UDT respectively, were included in the study. The sacs from inguinal hernia and hydrocele had significantly more presence of smooth muscles distributed as multiple smooth muscle bundles (p < 0.001). Desmin and SMA staining of smooth muscle cells was observed in significantly more sacs from hydrocele, followed by inguinal hernia and UDT (p < 0.001). The sacs from UDT had a significant presence of striated muscles (p = 0.028). The sacs from inguinal hernia had a significant presence of myofibroblasts, followed by hydrocele and UDT (p < 0.001) and this significantly correlated with the light microscopy and immunohistochemical features. The processus vaginalis sacs from four female patients did not differ statistically from the male inguinal hernia sacs in any of the above parameters. Conclusion: The processus vaginalis sacs in pediatric inguinal hernia, hydrocele and undescended testis differ in the presence, distribution and phenotype of smooth muscles and the presence of myofibroblasts. The clinical presentations in these entities reflect these differences. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to investigate the rate of re-ascent requiring re-operation after primary orchidopexy and to investigate eventual differences between the inguinal and scrotal approach as well as other potential predictors for re-ascent. Methods: A retrospective cohort study of children treated for undescended testis (UDT) with orchidopexy between 2018 and 2022 was conducted. The primary outcome was re-ascent requiring re-operation, and the secondary outcome was atrophy rate. Independent variables were age, underlying conditions, side, surgical approach, operation time, bilaterality, congenital/ascended UDT, presence of scrotal hypoplasia, presence of a patent processus vaginalis, division of external oblique, and suture of the testis. Univariate and logistic regression were used to evaluate differences between groups and risk for re-ascent. Results: A total of 662 testes in 554 patients were included. Re-operation occurred in 6% (7% with inguinal approach, 3% with scrotal approach, p = 0.04). Re-operation was associated with younger age, congenital UDT, and inguinal approach, but neither of these variables remained significant in multivariate analyses. Atrophy occurred in one testis. Conclusion: The rate of re-ascent was 6% and the atrophy rate was 0.15%. A larger study may find predictors for re-ascent but with very low absolute risk. The lower rate of re-ascent with the scrotal approach is probably due to selection bias. [ABSTRACT FROM AUTHOR]

Background: Testicular volume (TV) and testicular atrophy index (TAI) were used to determine criteria for normal, hypotrophic and atrophic undescended testes (UDT). Objectives: This study aimed to determine changes in TV and TAI in patients with different types of UDT. Materials and Methods: 182 boys (aged 0.3–14.0 years) with 212 UDTs were assessed twice 24 months apart. Testes were unilateral (UCT) or bilateral canalicular (BCT) and intra-abdominal (IAT). Results: At the beginning of the observation, the highest TAI was observed in IAT and the lowest in the BCT group (38.1 vs. 12.5%, p < 0.05). After 2 years, the highest TAI was observed in the BCT and IAT groups (20.5 and 19.1%), while the lowest was in the UCT group (12.0%, p < 0.05). At the beginning and after 2 years, the highest TAI was observed in boys aged < 6 years (25.0%, 18.2%) and the lowest in pubertal boys aged 12–14 years (5.9%, 7.3%, p < 0.05). A total of 78.3% of patients at the beginning and 86.8% at the end of the observation had TAI < 30%. Furthermore, 7% of boys at the beginning and 3% at the end of the observation had TAI > 50%. IATs have the highest testicular growth potential (TGP), while BCTs have the lowest (120.0 vs. 28.6%, p < 0.05). The highest TGP was in boys aged < 3 years (100%, p < 0.05) and boys aged 12–14 years (98.1%, p < 0.05), while the lowest was in boys aged 9–10.9 years (19.5%, p < 0.05). Conclusions: We revealed the continuous growth of UDTs until puberty independently of their position. IATs revealed high growth potential. [ABSTRACT FROM AUTHOR]

Purpose: To identify the genetic cause of a cryptorchidism patient carrying a non-canonical splicing variant highlighted by SPCards platform in RXFP2 and to provide a comprehensive overview of RXFP2 variants with cryptorchidism correlation. Methods: We identified a homozygous non-canonical splicing variant by whole-exome sequencing and Sanger sequencing in a case with cryptorchidism and non-obstructive azoospermia (NOA). As the pathogenicity of this non-canonical splicing variant remained unclear, we initially utilized the SPCards platform to predict its pathogenicity. Subsequently, we employed a minigene splicing assay to further evaluate the influence of the identified splicing variant. Microdissection testicular sperm extraction (micro-TESE) combined with intracytoplasmic sperm injection (ICSI) was performed. PubMed and Human Genome Variant Database (HGMD) were queried to search for RXFP2 variants. Results: We identified a homozygous non-canonical splicing variant (NM_130806: c.1376-12A > G) in RXFP2, and confirmed this variant caused aberrant splicing of exons 15 and 16 of the RXFP2 gene: 11 bases were added in front of exon 16, leading to an abnormal transcript initiation and a frameshift. Fortunately, the patient successfully obtained his biological offspring through micro-TESE combined with ICSI. Four cryptorchidism-associated variants in RXFP2 from 90 patients with cryptorchidism were identified through a literature search in PubMed and HGMD, with different inheritance patterns. Conclusion: This is the first cryptorchidism case carrying a novel causative non-canonical splicing RXFP2 variant. The combined approach of micro-TESE and ICSI contributed to an optimal pregnancy outcome. Our literature review demonstrated that RXFP2 variants caused cryptorchidism in a recessive inheritance pattern, rather than a dominant pattern. [ABSTRACT FROM AUTHOR]

Purpose: We assessed the stiffness of unilateral undescended testes after orchiopexy, examining its value in tracking histopathological changes and fertility potential during postoperative followup. Additionally, we explored the optimal timing for surgery based on testicular stiffness. Patients and Methods: Thirty-six boys who had been diagnosed with unilateral undescended testis and treated with orchiopexy were included in the study. Testicular stiffness was evaluated several times over respective follow-up periods by ultrasound strain elastography after orchiopexy. The strain ratios were measured as the ratios of the elasticities of the descended testis to those of the operated testes. The patients were divided into two groups based on the age at which they underwent orchiopexy: under < 2 years (Group A) and = 2 years (Group B). Results: The mean strain ratios were 0.90 ± 0.32 and 0.92 ± 0.20 in Groups A and B, respectively. In Group A, the strain ratio was constant regardless of postoperative months (r = 0.01, p = 0.99); however, in Group B, it tended to increase with postoperative months (r = 0.42, p = 0.07). Conclusions: Evaluation of testicular stiffness may be useful for the estimation of histopathological changes and fertility potential in boys with unilateral undescended testes at follow-up appointments after orchiopexy. Our data indicate that performing orchiopexy as early as possible may be recommended to avoid testicular damage. [ABSTRACT FROM AUTHOR]

Bart syndrome is a rare genetic disorder characterized by the presence of mechanical fragility and a congenital localized absence of the skin. We share a case of a newborn presenting with aplasia cutis congenita, epidermolysis bullosa, and pyloric atresia, features consistent with Bart syndrome. The patient also exhibited other congenital defects, including a fused external auditory meatus, corneal cloudiness, an asymmetrical mandible, and bilateral undescended testes. [ABSTRACT FROM AUTHOR]

Congenital cryptorchidism, also known as undescended testis, is the condition where one or both testes are not in place in the scrotum at birth and is one of the most common birth defects in boys. Temporal trends and geographic variation in the prevalence of cryptorchidism from 1% to 9% have been reported in prospective cohort studies. The testes develop in the abdominal cavity and descend to the scrotum in two phases, which should be completed by gestational week 35. Thus, the risk of cryptorchidism is higher in preterm boys. In many cases a spontaneous descent occurs during the first months of life during the surge of gonadotropins and testosterone. If not, the testis is usually brought down to the scrotum, typically by surgery, to increase future fertility chances and facilitate cancer surveillance. The increasing frequency of impaired semen quality and testicular cancer, with which cryptorchidism is associated, represents a concern for male reproductive health in general and a need to understand its risk factors. The risk of cryptorchidism is closely related to gestational factors (preterm birth, low birth weight and intrauterine growth restriction), and especially maternal smoking seems to be a risk factor. Evidence is accumulating that the increasing prevalence of cryptorchidism is also related to prenatal exposure to environmental chemicals, including endocrine disrupting compounds. This association has been corroborated in rodents and supported by ecological studies. Conducting human studies to assess the effect of endocrine disrupting chemicals and their interactions is, however, challenged by the widespread concomitant exposure of all humans to a wide range of chemicals, the combined effect of which and their interactions are highly complex. [ABSTRACT FROM AUTHOR]

Background The most prevalent sexual differentiation disorder in males is undescended testis (UDT), which occurs when the testis is absent from the scrotum or cannot be brought down during a physical examination. Pregnancy outcome may be influenced by the wife's lifestyle and surgical correction within the past year Objectives This study aims to determine pregnancy outcome in Assisted Reproductive Technology (ART) on a wive with a UDT husband assessed by the wive's life style and surgery correction before 1 year. Methods A cross-sectional study was conducted. Data were taken from patients who underwent Assisted Reproductive Technology at AMC Hospital, Yogyakarta. Data collection from 2018 to 2021. Samples in the unilateral and bilateral groups were 20 husbands. Wilcoxon Signed Rank Test helped carry out the analyses. Results There was an association between infertility and UDT either unilaterally or bilaterally (p = 0.009). Most UDT husbands had a BMI in the overweight category and the average age was 28 and 29. Other factors such as the wive's life style and surgery correction before 1 year, including smoking habit, alcohol consumption, addictive drug and hormonal drug, had no significant effect on the success of pregnancy outcome (p > 0.05). Conclusions Although pregnancy outcome in unilateral and bilateral UDT patients was not statistically significant, clinically, the pregnancy outcome was better in husbands with unilateral UDT by IUI than in IVF. [ABSTRACT FROM AUTHOR]

Cryptorchidism is defined as the extra-scrotal position of the testes. It is a common disorder in male children, but rarely in adult patients. The association of cryptorchidism with hernia is a common finding in childhood, but is not frequent in adults or the elderly. Herein, we report a series of three cases (28-, 24-, and 34-year-old men) of adult inguinal hernia combined with cryptorchidism successfully managed by laparoscopic surgery under the same operative view. Laparoscopic transabdominal preperitoneal repair and orchiectomy were performed in all patients. No complications occurred in the postoperative period, and the patients were discharged on the first or second postoperative day. Pathological examination of the specimens revealed atrophic testes without malignancy. No hernia recurrence was observed during follow-up. The laparoscopic approach in the combined pathology of inguinal hernia and cryptorchidism is feasible in adult patients and has multiple advantages in terms of diagnosis and management. [ABSTRACT FROM AUTHOR]