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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]

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]

Background: To lower the risk of testicular malignancies and subfertility, international guidelines recommend orchidopexy for undescended testis (UDT) before the age of 12–18 months. Previous studies reported low rates of 5–15% of timely surgery. Most of these studies are based on DRG and OPS code-based data from healthcare system institutions that do not distinguish between congenital and acquired UDT. Methods: In a retrospective study data of all boys who underwent orchidopexy in a university hospital and two outpatient surgical departments from 2009 to 2022 were analyzed. The data differentiates congenital from acquired UDT. Results: Out of 2694 patients, 1843 (68.4%) had congenital and 851 (31.6%) had acquired UDT. In 24.9% of congenital cases surgery was performed before the age of 12 months. The median age at surgery for congenital UDT was 16 months (range 7–202). Over the years there was an increased rate of boys operated on before the age of 2 (40% in 2009, 60% in 2022). The median age fluctuated over the years between 21 and 11 months without a trend to younger ages.. The covid pandemic did not lead to an increase of the median age at surgery. The median time between referral and surgery was 46 days (range 1–1836). Reasons for surgery after 12 months of age were a delayed referral to pediatric surgeries (51.2%), followed by relevant comorbidities (28.2%). Conclusion: Compared to recent literature, out data show that a closer look at details enables a more realistic approach. Still, there is no trend towards the recommended age for surgical treatment observable, but the rate of timely operated boys with congenital UDT is significantly higher than stated in literature. [ABSTRACT FROM AUTHOR]

Background: Splenogonadal fusion (SGF) is a rare developmental choristoma in which ectopic splenic tissue is aberrantly attached to the gonads, mostly in the scrotum. It is a great clinical masquerader, and accurate preoperative diagnosis is often difficult due to the rarity of this entity. Many patients tend to undergo unnecessary surgical explorations and also orchiectomy. Accordingly, this article aims to review the latest literature regarding SGF and a description of the radiological features of this rare entity. Multiple systematic methods were used to find the latest publications on splenogonadal fusion by searching the Scopus, PubMed, and Google Scholar databases online since 2013. The latest comprehensive review of this rare entity was of 61 cases by Malik et al. in 2013. We reviewed all the cases of SGF reported in the literature in the last 10 years between 2013 and 2022 with an emphasis on diverse clinical presentations and radiologic findings. Along with this, a surgical and pathological proved case of SGF will be presented with emphasis on imaging findings. Splenogondal fusion is an uncommon differential diagnosis in patients with scrotal swelling. The current literature review showed the discontinuous type (63%) of SGF to be more common than the continuous (37%) type in contradiction to the previous literature review. Orchiectomy was done in 36% of cases as compared to 24% as described in the latest review by Malik et al. Conclusions: Knowledge of this entity along with familiarization with its imaging features among radiologists is essential for surgical prognostication and avoiding unnecessary orchiectomy. We suggest that the addition of colour Doppler and elastography to routine grey-scale ultrasound can increase diagnostic confidence. Subsequent cross-sectional imaging with magnetic resonance imaging (MRI) helps categorize the subtype and pre-operative planning. [ABSTRACT FROM AUTHOR]

We describe an unusual case of prostatitis caused by Streptococcus canis evolving to endocarditis and splenic, renal, and cerebral thromboembolism in a dog, associated with a Sertoli cell tumour in a cryptic testis and diffuse prostatic squamous metaplasia. A nine-year-old, intact male, mixed-breed dog was presented to a veterinary teaching hospital with abdominal pain and prostration. Physical examination and abdominal ultrasonography revealed an atrophic right testicle located in the subcutaneous tissue. The left testicle was in the abdominal cavity with increased dimensions and irregular contours. Complete blood count analysis showed marked neutrophilic leukocytosis and thrombocytopenia. After clinical worsening, euthanasia was performed, and the dog was submitted to post-mortem examination. The main gross findings included testicular malposition with one cryptic and one ectopic testis, enlarged prostate with purulent content, distension of the urinary bladder with cloudy urine, vegetative valvular endocarditis in the mitral valve, and spleen and renal infarcts. Histological examination showed a Sertoli cell tumour in the abdominal testis, diffuse prostatic squamous metaplasia with marked keratinization associated with bacterial prostatitis, fibrinonecrotic cystitis, bacterial endocarditis with marked myxomatous degeneration in the mitral valve, and splenic, renal, and cerebral thromboembolism. Microbiological analysis identified Streptococcus canis in the prostate and mitral valve. Sertoli cell tumour of cryptic testis increases oestrogen production and leads to squamous metaplasia of the prostate, which should be considered as predisposing factors for ascending S. canis infection from the urogenital tract to the prostate. Then, haematogenous spread of S. canis from the prostate to mitral valve cause endocarditis and subsequent thromboembolism and infarcts, all decisive to poor prognosis in this case. [ABSTRACT FROM AUTHOR]

An undescended testis is the most common genitourinary disease in boys. The German guidelines, first published in 2009, proposed the timing of orchidopexy to be before 12 months of age. The aim of the study was to analyze the implementation of these guidelines 10 years after publication. The national cumulative statistics of hospital admissions, provided by the Institute for the Remuneration System in Hospitals (InEK), and the statistics concerning procedures performed in private pediatric surgical practices of the professional association of pediatric surgeons (BNKD) regarding the time of surgeries for the year 2019 were analyzed. Data from InEK included all German hospital admissions. Data from BNKD included data from 48 private pediatric surgical practices. The hospitals treated 6476 inpatients with undescended testis, and 3255 patients were operated in private practices. Regarding the age at treatment, 15% of the hospital patients and 5% of the private practice patients were younger than 1 year and fulfilled the guideline recommendations. Forty percent of the hospital patients and 29% of the private practice patients were 1 or 2 years of age. All other patients were 3 years of age or older at the time of orchidopexy. Conclusions: The rate of orchidopexy within the first 12 months of life is remarkably low even 10 years after the publication of the guidelines. Awareness of the existing guideline must be increased for both referring pediatric and general practitioners. What is Known: • In Germany, orchidopexy is performed by pediatric surgeons and urologists either in hospital settings or in private practices. • Most international guidelines set the age for surgical treatment of undescended testis between 12 and 18 months of age. The German guidelines, published in 2009, sets the time-limit at one year of age. Until five years after publication of the German guidelines, the number of patients treated before the first year of life was low; studies show an orchidopexy ratebetween 8% and 19% during this time. What is New: • This study the first to cover all administered hospital patients in Germany and a large group of patients treated in private practices. It contains the largest group of German patients with undescended testis. • Although almost all children participate in the routine check-up at the age of seven months, which includes investigation for undescended testis, adherence to the orchidopexy guidelines is still low. Only 15% of the hospital patients and 5% of the patients in private practice were treated before their first birthdays. [ABSTRACT FROM AUTHOR]

Copyright of Gynäkologische Endokrinologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Cryptorchidism is one of the most common congenital anomalies in newborn boys. There are various risk factors that have been verified to have relationship with cryptorchidism, including exogenous and genetic, but the pathogenesis of cryptorchidism remains unclear. PFKM gene is a critical gene encodes for a regulatory enzyme, which limits the rate in the pathway of glycolysis. We assumed that cryptorchidism risk may associated with PFKM gene single-nucleotide polymorphisms (SNPs). Thus we selected three tag SNPs in the PFKM gene and aimed to investigate the possible association between PFKM gene polymorphisms and cryptorchidism risk.Methods: The SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. 140 cases and 227 controls were enrolled in this study, including 105 unilateral cryptorchidism and 35 bilateral cases. The testis position was decided by the higher one in bilateral cases.Results: The frequency of allele G of SNP rs2228500 is increased in cryptorchidism patients compared to that in controls (p < 0.05). Genotypic frequencies of rs2228500 are associated with the susceptibility of cryptorchidism in the codominant model (p < 0.05). And compared with G/G genotype in the dominant model, notable decreased frequencies of A carriers (A/G-A/A genotypes) were observed in cryptorchidism patients (p = 0.0069, OR = 1.80, 95% CI  1.17-2.75).Conclusions: This research first revealed that PFKM gene polymorphisms were associated with cryptorchidism in a Chinese Han population. We have offered primary evidence that the G allele and the G/G genotype of rs2228500 SNP in the PFKM gene are more frequent in patients with cryptorchidism than healthy controls. [ABSTRACT FROM AUTHOR]

Undescended testis (UDT) is defined as failure of a testis to descend into the scrotum and it is a common reason for consultation in pediatric urology. As extensively discussed in "The undescended testis in children and adolescents: part 1", the failure of a testis to descend alters testicular germ-cells development, increasing the risk of infertility and testicular cancer in adulthood. Here, we present the second part of our review and analysis of this topic with the aim to propose an updated and well-informed approach to UDT together with a treatment flow chart that may be useful to guide pediatric surgeons and urologists in the care of these patients. The main goal of the management of patients with UDT is to diminish the risk of infertility and tumor development and is based on the clinical findings at the time of diagnosis. [ABSTRACT FROM AUTHOR]

Undescended testis (UDT) is defined as failure of a testis to descend into the scrotum. It is one of the most common reasons for consultation in pediatric surgery and urology with an incidence of 3% in live-born male infants. Decades ago, classical studies established that the failure of a testis to descend alters the development of its germ cells increasing the risk of infertility and testicular cancer in adulthood. More recent publications have rebutted some of the myths and raised controversies regarding the management of these patients, which, far from being limited to surgical treatment, should include pathophysiological and prognostic aspects for a comprehensive approach to the condition. Therefore, here we present an updated review divided into two parts: the first assessing the pathophysiological aspects and risks of these patients focused on fertility and cancer, and the second addressing the different treatment options for UDT. [ABSTRACT FROM AUTHOR]

Objective: To assess the testicular volume in children with unilateral cryptorchidism of different ages in Hainan Province, China. Methods: The study included 424 children (ranging in age from 0 month to 4 years) with unilateral cryptorchidism or normal who were treated from 2017 to 2021 at our institution. They were divided into different groups according to age. We evaluated the correlation of testicular volume between the children with cryptorchidism and the normal children among different groups. Results: There was a significant difference in testicular volume between the affected side and the healthy side. There was no difference in testicular volume between the left side and the right side of each control group. There were significant differences between the affected side of cryptorchid groups and the same side of the control groups. There were no significant differences between the healthy side of cryptorchid groups and the same side of the control groups. There were no significant differences between the affected side of left cryptorchid groups and right cryptorchid groups. There were no significant differences between the healthy side of left cryptorchid groups and right cryptorchid groups. There were significant differences in testicular volume among different age groups of the control group, while there were no differences in the cryptorchid groups. Conclusions: The development of testicular volume in children with unilateral inguinal cryptorchidism is affected in earlier age, and there was no compensatory testicular adaptation in the healthy testis. [ABSTRACT FROM AUTHOR]

Background: Persistent Mullerian Duct Syndrome (PMDS) is a type of pseudo-hermaphroditism occurring in males internally due to failure in the Anti Mullerian Hormone (AMH)-dependent sex differentiation pathway. Due to absent Anti Mullerian Hormone (AMH), the adult male has both the Wolffian and Mullerian duct derivatives. Considering the limited information available in the existing literature, malignant transformation in PMDS has rarely been reported. Case Presentation: In this article we present two cases of PMDS which have complicated in to malignancy with review of literature and histopathological correlation. Both of these patients presented with lower abdominal pain, for which computed tomography of abdomen and pelvis was performed following ultrasound of abdomen and pelvis Both the Wolffian and Mullerian duct derivates were visualized on the above mentioned scans in these genetically confirmed males (46 XY). Conclusion: Familiarity with PMDS is necessary to diagnose the condition. Hence, in this article, we report recherche presentations of Persistent Mullerian Duct Syndrome which had complicated into malignancies. [ABSTRACT FROM AUTHOR]

Cryptorchidism is one of the most common abnormalities of male sexual development, and is characterized by the failure of the testis to descend into the scrotum. Despite extensive studies of cryptorchidism over the past century, the mechanisms for temperature-induced germ-cell loss are not well understood. All of the main cell types in the testis are believed to be affected by the elevated testis temperature induced by cryptorchidism. The cooler temperature in the special environment of the scrotum is required for maintaining optional conditions for normal spermatogenesis. Many studies reported that experimentally induced cryptorchidism caused germ cell apoptosis and suppressed spermatogenesis. However, other factors including hormones must also be examined for cryptorchidism. To explore the mechanism for cryptorchidism, in vitro cultures of testes have been used, but complete spermatogenesis using in vitro methods was not accomplished until 2011. In 2011, Sato et al. (Nature, 471, 504–507) reported the in vitro production of functional sperm in cultured neonatal mouse testes. Using this in vitro system, for the first time, we report that spermatogenesis was abrogated at 37 °C, in accordance with in vivo surgery-mediated cryptorchidism, while spermatogenesis proceeded at 34 °C in cultured testes. This result clearly showed that temperature is the sole determinant of cryptorchidism. Moreover, we found that spermatogenesis was arrested before early spermatocytes at 37 °C. In conclusion, using our in vitro system, we have demonstrated that (1) temperature is the determining factor for cryptorchidism, and (2) higher temperature (37 °C) suppresses DNA synthesis in spermatogenesis. [ABSTRACT FROM AUTHOR]

Background: Vanishing testicular syndrome is also known as testicular regression syndrome (TRS) is due to atrophy and disappearance of testis in the fetal life after the formation of the normal testis. It is a spectrum of disorders; clinical features are depending upon the stage of fetal or early neonatal life at which function of testicles ceases. Case presentation: Young 40-year-old male patient came for a routine master health checkup. On clinical examination he had a nonpalpable left testis, Rest of the clinical examinations are unremarkable. Referred to ultrasound (USG), for testis localization reveals the absence of left testis in the left scrotal sac and inguinal canal. Further MRI of the scrotum reveals the feature of TRS. Conclusion: TRS in the 4th-decade adult is rarely reported in the literature. The asymptomatic presentation shows the least possibility of neoplasm in TRS patients. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of the study is to evaluate results and outcomes in a long-time follow-up period, by performing a novel testicular fixation procedure, known as "fat anchor orchidopexy" (FAO), for the treatment of palpable low inguinal undescended testis. Materials and methods: We retrospectively reviewed all patients who underwent scrotal orchiopexy technique, from May 2013 to May 2019, at the Pediatric Surgery Division of Department of Surgical Pathology, University of Pisa (Italy). FAO (Spinelli's technique) consists in anchoring the testicles to sub-scrotal fat with a single trans-scrotal incision. All the patients enrolled had history of unilateral or bilateral undescended testis. Data collected included patient's age, operative times and complications. Results: A total of 150 children with cryptorchidism were treated using a single trans-scrotal orchiopexy. Of them, 130 patients (86.7%) had unilateral undescended testis and 20 (13.3%) bilateral cryptorchidism. Mean patient's age was 21 months (range: 14–28 months). All the procedures were planned in a day-surgery setting. Trans-scrotal orchiopexy was successful in all cases and no patients required an additional groin incision. No intraoperatively and postoperatively major complications were observed. Patients' post-operative pain was mild (mean pediatric visual analog scale = 2). In all cases, the healing process was rapid and no surgical wounds infections were reported during the post-operative period, referring excellent cosmesis results. During a mean 48-month follow-up period, no testicular retraction, recurrence or testis atrophy was reported. Conclusion: The original Spinelli's technique (FAO) proves to be a safe and effective method for the treatment of palpable or distal-to-external-inguinal-ring testes. No immediate and delayed post-surgery complications were reported. In all cases, the anchored testicle remained in the scrotal position with normal vascularization. This novel surgical technique could give better options for scrotal fixation in case of low-lying cryptorchid testes. [ABSTRACT FROM AUTHOR]

Background: A persistent Müllerian duct syndrome is a rare disorder of sexual differentiation characterized by the presence of the female reproductive system in a normal male. Case presentation: Herein, we report a case of a 35-year-old father with persistent Müllerian duct syndrome and seminoma in the right undescended testis. The exploratory laparotomy was performed and revealed a mass in the right undescended testis and Müllerian duct structures. Conclusions: For patients with cryptorchidism and inguinal hernia, the persistent Müllerian duct syndrome should be considered, and radiological evaluation of the genitourinary system is recommended for early diagnosis of persistent Müllerian duct syndrome. The persistent Müllerian duct syndrome is usually detected during a surgical operation, and it is considered a risk factor for developing testicular malignancies. [ABSTRACT FROM AUTHOR]

Cryptorchidism causes spermatogenic failure and reduced serum androgen levels, as well as testicular oedema and fibrosis, which are hallmarks of inflammation. However, the role of inflammation and the effects of cryptorchidism on Sertoli cell and Leydig cell function at the molecular level remain ill-defined. Bilateral cryptorchidism was surgically induced in adult rats for 7 and 14 weeks. Testis weights decreased to 40% of normal within 7 weeks, due to loss of all developing spermatogenic cells except spermatogonia, but did not decrease further at 14 weeks. Serum FSH and LH were increased at both time points, consistent with a loss of feedback by inhibin and testosterone. This damage was accompanied by progressive accumulation of interstitial fluid and peritubular fibrosis, and a progressive decline of several critical Sertoli cell genes (Sox9, Inha (inhbin α-subunit), Cldn11 (claudin 11), Gja1 (connexin 43), and Il1a (interleukin-1α)) and the Leydig cell steroidogenic enzymes, Cyp11a1, Hsd3b1, and Hs17b3. Activin B and the activin-binding protein, follistatin, also declined, but the intratesticular concentration of activin A, which is a regulator of inflammatory responses, was largely unaffected at either time point. Expression of genes involved in inflammation (Tnf, Il10, Il1b, Mcp1) and fibrosis (Acta2, Col1a1) were considerably elevated at both time points. These data indicate that induction of experimental cryptorchidism, which causes complete failure of spermatogenesis in the adult rat, also induces chronic testicular inflammation, manifesting in oedema and fibrosis, and a progressive decline of Sertoli and Leydig cell gene expression and function. [ABSTRACT FROM AUTHOR]

Unsuccessful descent of testes in humans and other scrotal mammals can result in cryptorchidism, consequent abnormalities and a high risk of malignancy. However, many male adult mammals possessing natural ascrotal testes are as viable and healthy as other scrotal mammals. This study performed an evolutionary analysis on the desert hedgehog (DHH) signaling pathway, an important regulator for testicular development, mainly in laurasiatherians. Significant positive selection, accelerated evolutionary rates, and specific amino acid substitutions were identified in ascrotal species, some of which caused radical changes in physicochemical and biological properties. Considering that most signs of positive selection were identified in genes responsible for or related to negative regulation, we suggest that the enhanced negative regulation of the DHH signaling pathway drives, at least in part, the evolution of ascrotal testes in laurasiatherians and other mammals. This study could provide some novel insights into the evolution of natural healthy 'cryptorchidism' in mammals and into the convergent molecular evolution of the complex trait. [ABSTRACT FROM AUTHOR]

Human health effects of airborne lower-chlorinated polychlorinated biphenyls (LC-PCBs) are largely unexplored. Since PCBs may cross the placenta, maternal exposure could potentially have negative consequences for fetal development. We aimed to determine if exposure to airborne PCB during pregnancy was associated with adverse birth outcomes. In this cohort study, exposed women had lived in PCB contaminated apartments at least one year during the 3.6 years before conception or the entire first trimester of pregnancy. The women and their children were followed for birth outcomes in Danish health registers. Logistic regression was performed to estimate odds ratios (OR) for changes in secondary sex ratio, preterm birth, major congenital malformations, cryptorchidism, and being born small for gestational age. We performed linear regression to estimate difference in birth weight among children of exposed and unexposed mothers. All models were adjusted for maternal age, educational level, ethnicity, and calendar time. We identified 885 exposed pregnancies and 3327 unexposed pregnancies. Relative to unexposed women, exposed women had OR 0.97 (95% CI 0.82, 1.15) for secondary sex ratio, OR 1.13 (95% CI 0.76, 1.67) for preterm birth, OR 1.28 (95% CI 0.81, 2.01) for having a child with major malformations, OR 1.73 (95% CI 1.01, 2.95) for cryptorchidism and OR 1.23 (95% CI 0.88, 1.72) for giving birth to a child born small for gestational age. The difference in birth weight for children of exposed compared to unexposed women was − 32 g (95% CI—79, 14). We observed an increased risk of cryptorchidism among boys after maternal airborne LC-PCB exposure, but due to the proxy measure of exposure, inability to perform dose–response analyses, and the lack of comparable literature, larger cohort studies with direct measures of exposure are needed to investigate the safety of airborne LC-PCB exposure during pregnancy [ABSTRACT FROM AUTHOR]

Purpose: To identify the contribution of mutations in the Desert Hedgehog (DHH) gene to the disorders of sexual differentiation (DSD) and male infertility. Methods: The study included a total 430 subjects, including 47 gonadal dysgenesis cases, 6 patients with undescended testis and infertility characterized by azoospermia, 125 infertile male patients characterized by oligoasthenozoospermia, 24 patients with oligoasthenoteratozoospermia, and 200 ethnically matched normozoospermic fertile men who had fathered a child in the last two years. Sequencing of the complete coding region of the DHH gene was undertaken to find its contribution to the DSD and male infertility. Results: We observed four novel mutations in the DHH gene in the cases with different reproductive anomalies. A synonymous substitution, c. 543C>T (p.His181His) was observed in 6.6% oligoasthenozoospermic infertile males and 1.5% normozoospermic fertile control samples (RR = 4.4077, 95%CI 1.19–16.29). Another synonymous substitution, c.990G>A (p.Ala330Ala) was observed in an infertile patient with unilateral undescended testis (case #12). Insertion of G at c.1156insG (p.Arg385fs) was observed in a case with bilateral undescended testis and azoospermia (case #23). In gonadal dysgenesis category, two mutations, insertion of G at c.1156insG (p.Arg385fs) and c.997A>G (p.Thr333Ala) substitution were observed in one case (case #34). These mutations were completely absent in control samples. Conclusion: Mutations in the DHH gene impact reproduction with mild mutations affecting fertility, and severe or multiple mutations resulting in gonadal dysgenesis. [ABSTRACT FROM AUTHOR]

Purpose: Several studies have reported high prevalence of undescended testis (UDT) among boys with congenital abdominal wall defects (AWD). Due to rarity of AWDs, however, true prevalence of testicular maldescent among these boys is not known. We conducted a national register study to determine the prevalence of UDT among Finnish males with an AWD. Methods: All male infants with either gastroschisis or omphalocele born between Jan 1, 1998 and Dec 31, 2015 were identified in the Register of Congenital Malformations. The data on all performed operations were acquired from the Care Register for Health Care. The register data were examined for relevant UDT diagnosis and operation codes. Results: We identified 99 males with gastroschisis and 89 with omphalocele. UDT was diagnosed in 10 (10.1%) infants with gastroschisis and 22 (24.7%) with omphalocele. Majority of these required an operation; 8/99 (8.1%) gastroschisis and 19/89 (21.3%) omphalocele patients. UDT is more common among AWD patients than general population with the highest prevalence in omphalocele. Conclusions: Cryptorchidism is more common among boys with an AWD than general population. Furthermore, omphalocele carries significantly higher risk of UDT and need for orchidopexy than gastroschisis. Due to high prevalence testicular maldescent, careful follow-up for UDT is recommended. [ABSTRACT FROM AUTHOR]

Purpose of Review: The two-stage Fowler-Stephens orchiopexy is a well-described surgical approach for most pediatric urologists tackling the high intra-abdominal testis. Testicular ascent is a well-reported outcome of the surgery and a problem that could be fixed with a repeat procedure. The purpose of this review is to determine the rate of subsequent testicular ascent and repeat surgery after a two-stage Fowler-Stephens using best available evidence. Recent Findings/Result: We selected 16 studies that pertained to our topic. 0–13% of testicles were deemed to be in an inappropriate position on follow-up (6–37 months). The definition of appropriate postoperative position varied between studies and rates of repeat procedures were sparsely available. Available data reports a repeat orchiopexy rate of 2.6–7.5% after two-stage Fowler-Stephens. Summary: Two-stage Fowler-Stephens orchiopexy is a highly successful surgical technique to manage high intra-abdominal testes. Rates of testicular ascent are difficult to ascertain due to varying definitions and small sample sizes. While repeat procedures are typically indicated, the actual rate of repeat orchiopexy is rarely reported and long-term outcomes following a third procedure is sparse. [ABSTRACT FROM AUTHOR]

Copyright of Der Urologe A is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose: Inhibin-B is produced by Sertoli cells and decreased values might be associated with impaired fertility potential. The aim of the study was to evaluate the impact of bilateral orchidopexy on serum inhibin-B and follicle-stimulating hormone (FSH). Methods: A cohort study including 208 bilateral cryptorchid boys (median age: 1.7 year) was evaluated with serum inhibin-B and FSH in relation to histological parameters. Based on the fertility potential, the boys were divided into three subgroups. At follow-up (median age: 2.7 years) the boys were evaluated with FSH and in case of inhibin-B using multiple of the median (MoM). Results: Inhibin-B MoM improved significantly at follow-up. In 32 boys with high FSH at orchidopexy 63% normalized FSH and 59% increased MoM inhibin-B, but 31% had impaired inhibin-B at follow-up. In 105 boys with transient hypogonadotropic hypogonadism, 52% increased inhibin-B MoM but 31% had impaired inhibin-B at follow-up. In 71 boys with normal FSH, inhibin-B, and G/T, 54% increased inhibin-B MoM and 15% had impaired inhibin-B at follow-up. The effect of the surgery was best in patients younger than 1 year. Conclusion: Orchidopexy, especially before 1 year of age, improves the fertility potential in bilateral cryptorchidism. At follow-up, 26% (54/208) had a risk of infertility based on inhibin-B. [ABSTRACT FROM AUTHOR]

Chlordecone is an organochlorine pesticide that was extensively used to control the banana root borer population in the French West Indies until 1993. Its persistence in soil has led to widespread pollution of the environment, and human beings, including pregnant women, are still exposed to this chemical. High levels of exposure to chlordecone during gestation have been shown to cause congenital anomalies, including undescended testes in rodents. We assessed the associations between chlordecone concentrations in maternal and cord plasma and the risk of congenital anomalies in the Timoun Mother-Child Cohort Study (2004–2007) that included 1068 pregnant women in Guadeloupe. Odds ratios were estimated using unconditional logistic regression analysis, controlling for confounding factors. The median plasma concentrations in maternal and cord plasma were 0.39 μg/L and 0.20 μg/L, respectively. Thirty-six children were diagnosed with malformations according to the European Registration of Congenital Anomalies guidelines and 25 with undescended testes. There was no association between maternal or cord plasma concentration of chlordecone and the risk of overall malformations nor undescended testes. These results suggest that prenatal exposure to the currently observed environmental levels of chlordecone in French West Indies does not increase the risk of birth defects. [ABSTRACT FROM AUTHOR]

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

Cryptorchidism (CO) is a genital disorder of multifactorial etiology, with serious remote complications. Mutations in insulin-like 3 hormones (INSL3) G/A variant remain a matter of inquiry. We aimed to investigate the association between G178A-INSL3 polymorphism and undescended testis in a cohort of Egyptian children. In this study, a total of 160 children, including 80 cases with primary non-syndromic undescended testes and 80 healthy children with normal external genitalia as controls, both, were analyzed after detailed history, physical examination and imaging for mutations of G178A polymorphism of INSL3 gene by restriction fragment length polymorphism (RFLP) technique. We found most of the undescended testes were inside the inguinal canal mainly on the left side. Genetic analysis revealed that the mutant A allele of G178A INSL3 variant was significantly detected in the patient group with a frequency of 26.2% against 12.5% for control subjects, especially among cases with an evident family history of similar cases as shown by p value = 0.001 and odd's ratio (CI95%) of 0.13 (0.04–0.723). In conclusion, G178A—INSL3 gene polymorphism could be a susceptibility factor for testicular maldescent in Egyptian children. Also, family history of similar cases was considered as significant predictive risk for cryptorchidism, added to the shared genetic links to consanguinity in our locality. [ABSTRACT FROM AUTHOR]

Background: Improved survival in ADA-SCID patients is revealing new aspects of the systemic disorder. Although increasing numbers of reports describe the systemic manifestations of adenosine deaminase deficiency, currently there are no studies in the literature evaluating genital development and pubertal progress in these patients. Methods: We collected retrospective data on urogenital system and pubertal development of 86 ADA-SCID patients followed in the period 2000–2017 at the Great Ormond Street Hospital (UK) and 5 centers in Italy. In particular, we recorded clinical history and visits, and routine blood tests and ultrasound scans were performed as part of patients' follow-up. Results and Discussion: We found a higher frequency of congenital and acquired undescended testes compared with healthy children (congenital, 22% in our sample, 0.5–4% described in healthy children; acquired, 16% in our sample, 1–3% in healthy children), mostly requiring orchidopexy. No urogenital abnormalities were noted in females. Spontaneous pubertal development occurred in the majority of female and male patients with a few cases of precocious or delayed puberty; no patient presented high FSH values. Neither ADA-SCID nor treatment performed (PEG-ADA, BMT, or GT) affected pubertal development or gonadic function. Conclusion: In summary, this report describes a high prevalence of cryptorchidism in a cohort of male ADA-SCID patients which could represent an additional systemic manifestation of ADA-SCID. Considering the impact urogenital and pubertal abnormalities can have on patients' quality of life, we feel it is essential to include urogenital evaluation in ADA-SCID patients to detect any abnormalities, initiate early treatment, and prevent long-term complications. [ABSTRACT FROM AUTHOR]

Copyright of Der Urologe A is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Der Urologe A is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To determine the effect of tobacco consumption on paternity rates in men with a history of cryptorchidism. To compare the paternity rates between formerly unilateral, bilateral cryptorchid smokers, and nonsmokers.Methods: A retrospective cohort study of 153 men who had undergone orchiopexy between 1961 and 1985 at the Miguel Servet University Hospital (116 unilateral and 37 bilateral) and a control group of 100 men were evaluated by review of medical records and a questionnaire.Results: A total of 197 men filled the questionnaire (76.7%). There was no difference in paternity rates between smokers compared to nonsmokers (P = 0.21). In the unilateral cryptorchid men (ULC) group, there is no difference in paternity rates when compared with the controls (P = 0.079) or when comparing ULC smokers to ULC nonsmokers (P = 0.35). In the bilateral cryptorchid men (BLC) group, there is no difference in paternity rates when compared to controls (P = 0.075) or when comparing BLC smokers to BLC nonsmokers (P = 0.36). When comparing according to consumption, there is no difference between mild, moderate or heavy smoker cases and controls.Conclusion: There is no difference in paternity rates between men with a history of cryptorchidism that consume tobacco compared to nonsmokers or controls. More studies are needed to determine the impact of tobacco consumption in formerly cryptorchid men. [ABSTRACT FROM AUTHOR]

Persistent Müllerian duct syndrome (PMDS) is a rare form of pseudohermaphroditism in males with a normal phenotype and the 46,XY karyotype. PMDS is characterized by the presence of persistent Müllerian structures (uterus, fallopian tubes, and upper vagina), owing to the deficiency of anti-Müllerian hormone. PMDS is usually incidentally recognized during surgery or laparoscopy for cryptorchidism, with or without an inguinal hernia. Tumor development in PMDS is not uncommon. In most cases, an accompanying tumor develops from an undescended testis, and the most common histology is seminoma. Tumors that originated from Müllerian structures are less frequent. Leiomyoma, originated from the rudimentary uterus in PMDS, is very rare, and only two cases have been reported in the literature. In this report, we present two PMDS cases, which were complicated by tumor development. In the first case, there were multiple leiomyomas in the uterine wall, and in the second one, there was a seminoma in the same-side testis. [ABSTRACT FROM AUTHOR]

Purpose: Undescended testes (UDT) are subjected to heat stress, which can disturb gonocyte transformation as well as apoptosis. This study aims to describe the apoptosis pathway occurring during minipuberty of children with unilateral (UDT), and to investigate the role of inhibin-B.Methods: Testicular biopsies at unilateral orchidopexy of 10 boys (6-9 months old) with normal inhibin-B (n = 5) or low inhibin-B (n = 5) were selected for immunohistochemistry and TUNEL (Terminal deoxynucleotidyl transferase dUTP nick end labelling) assay. Testicular tubules were labelled with antibodies against Anti-Müllerian hormone (AMH, Sertoli cell marker), mouse Vasa Homolog (MVH) and placental alkaline phosphatase (PLAP) (both germ cell markers), cleaved caspase3 (apoptotic marker), and followed by confocal imaging and cell counting with Fiji/ImageJ. Data were analyzed with GraphPad Prism.Results: In males with low and normal inhibin-B, there was no statistical difference (p > 0.05) in the percentage of testicular tubules containing TUNEL + cells, number of cleaved caspase3 ± germ cells/tubule, total number of germ cells/tubule, and the percentage of fibrotic tubules or number of Sertoli cells/tubule.Conclusions: These results suggest that inhibin-B does not regulate cell death of gonocytes and further studies are required to uncover any role of inhibin-B in gonocyte transformation. [ABSTRACT FROM AUTHOR]

The risk factors for undescended testes in male infants and the underlying pathogenesis still remain unclear. The aim of this study is to identify the relationship between maternal smoking during pregnancy and risk of cryptorchidism. A systematic review was conducted using appropriate search terms to identify articles pertaining to maternal smoking during pregnancy and risk of cryptorchidism. Entries up to December 23, 2017 were taken into consideration, without any language or regional restriction. The crude ORs and their 95% CIs were computed by using the fixed-effect model. Twenty studies involving 111,712 infants were included in our meta-analysis. The risk of having a male infant with cryptorchidism was significantly different between mothers who smoked during pregnancy and those who did not (pooled crude OR 1.18, 95% confidence interval [CI] 1.12-1.24, p < 0.00001).Conclusion: Our findings suggest that smoking during pregnancy increased the risk of cryptorchidism by 1.18 times. Further investigations that are well-designed, multicentric studies measuring variables, such as the number of cigarettes smoked in a day and the stage of pregnancy during which the mothers smoked, are necessary to precisely determine the relationship between maternal smoking and risk of cryptorchidism. What is Known: • Preterm and low birth weight have been definitively shown to be risk factors for cryptorchidism. • The relationship between with maternal smoking during pregnancy and risk of cryptorchidism remains controversial all the time. What is New: • Mothers who smoked during pregnancy had a 1.18 times higher risk of having a child with cryptorchidism as compared to those who did not smoke. • Evidence has been found that maternal smoking during pregnancy is a definitive risk factor for cryptorchidism. [ABSTRACT FROM AUTHOR]

Abstract Cryptorchidism is failure of one or both testes to descend completely into the scrotum. The testis can be located anywhere along its journey of descent, between the lower pole of the kidney and the inguinal canal. Objective: The aim of this study was to assess the effectiveness of chemical shift imaging and Dixon based fat suppression using low field MRI in non-palpable undescended testicle. Patients and methods: From July 2017 through February 2018, Twenty eight boys, presented by either unilateral or bilateral cryptorchidism, with total number of forty testicles, underwent MRI study using low field machine in T1-weighted dual gradient-echo in-phase and opposed-phase sequence with Dixon based fat suppression. Results: Based on the laparoscopic/operative data, twenty one testes were located at the inguinal region, whereas fifteen testes were pelvi-abdominal and four were absent. The whole image sets of CSI and Dixon fat suppression had the highest specificity and positive predictive value (100%) and the highest overall accuracy (95%) for detection of undescended testes. Conclusion: chemical shift imaging combined with Dixon based fat suppression is reliable imaging tool as a standalone technique for evaluating cryptorchidism, providing high specificity and diagnostic accuracy. [ABSTRACT FROM AUTHOR]

Purpose: The anatomy of gubernaculum testis (GT) is often discussed; however, the postnatal anatomy of the GT or scrotal ligament (SL) is rarely described. Hence, we performed an anatomical and histological study to analyze histologically the structures between testis and scrotum.Methods: We performed anatomical dissections on 25 human fresh cadavers’ testes. Each testis was removed with its envelopes and macroscopically analyzed. Then samples were included for histological study. Finally, they were analyzed under microscope, looking for attachments between testis, epididymis and scrotal envelopes.Results: The absence of proximal and distal attachment was found in 56.0% of cases. Looking at the proximal attachment of the SL, the main one found is the epididymal attachment (28.0%), whereas no cases of testis attachment was found. Distally, there are more variations with scrotal attachment (12%) and cremaster attachment (12.0%). We found a significant prevalence of multiple adherences in 16.0% of cases too. Finally, in 15 cases (57.7%) an attachment is present between testis and epididymis, as it is commonly described.Conclusions: In the majority of cases there is no attachment of the lower pole of the testis and epididymis and these structures remain free. So it seems that the SL disappears with aging. Moreover, there is not only one kind of ligamentous attachment, but a high variability of attachments at the lower pole of the testiculo-epididymal structure. When it exists, this structure is never a real ligament and it seems more appropriate to use the term “attachments”. [ABSTRACT FROM AUTHOR]

The authors compared the age and referral patterns of pediatric patients undergoing surgical intervention for cryptorchidism at a rural, West Virginia University, versus urban, Johns Hopkins University, tertiary center. A retrospective review of patients undergoing surgical evaluation for cryptorchidism was performed. Patients treated for reasons unrelated to cryptorchidism or referred for multiple urologic diagnoses were excluded. The patients at each institution were then divided into four groups based on their corrected gestational age at time of surgery. Referral times and provider specialties were also obtained. A total of 131 cases at the urban center and 100 cases at the rural center were identified. At the rural center, the average age of referral and surgery were 48.3 and 53.8 months, respectively, compared to 59.6 and 65.2 months at the urban center. Only 40% of patients at the rural site and 29% at the urban institution underwent intervention at less than 18 months of age. There was no significant difference in time of referral to surgery between the institutions. The majority of referrals were made by private practice pediatricians.Conclusion: In this study, a pattern of delayed referral and intervention was observed at both institutions despite differing geographic regions and heterogeneous patient populations. It is important that referring providers realize that scrotal U/S does not change management of UDT and should not delay prompt referral. What is known: • Significant referral delay is a challenging issue in the management of cryptorchidism. • Ultrasound is not a valid method for the detection of cryptorchidism. What is new: • The rural and urban management of cryptorchidism is not that different. • More emphasis should be put on the detection management of cryptorchidism. [ABSTRACT FROM AUTHOR]

Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells. [ABSTRACT FROM AUTHOR]

Worldwide, recommendations for timely surgical repair of undescended testis (UDT) are not well translated into clinical practice, potentially due to suboptimal patient/parent education. We evaluated the frequency and content of information provided to affected parents of 310 consecutive cases of UDT undergoing orchidopexy. Parents were enquired regarding details of education provided by the attending clinician. 18% of parents were not provided with detailed information regarding any long-term consequences of untreated UDT. In the 79% who were educated, information about impaired fertility was frequent, while malignant degeneration, hypogonadism and testicular atrophy were poorly communicated. 49% of all parents searched for further information on the internet or through a second medical opinion. The frequency and level of detail of information regarding long-term complications provided to parents of children with UDT is suboptimal and needs to be improved. [ABSTRACT FROM AUTHOR]

Objective: Some studies have been carried out to evaluate the association between SNP12 in estrogen receptor 1 and cryptorchidism, but the results remain inconsistent. We carried out a meta-analysis to explore the association between this polymorphism and cryptorchidism risk.Methods: All eligible studies were searched in PubMed, Web of Science, Embase and Cochrane Library. Pooled odds ratios, with 95 % confidence intervals, were assessed for the association using fixed- and random-effects models.Results: Overall, four case-control studies (363 cases, 415 controls) were included in the meta-analysis. No significant publication bias (P Begg = 0.308, P Egger = 0.288) was found. A allele of SNP12 in estrogen receptor 1 was protective factor to cryptorchidism in allele model, dominant genetic model and heterozygote comparison in Caucasians, but the result was turned out to be false positive by trial sequential analysis. However, A in allele model was risk factor to cryptorchidism in Asians (odds ratio 2.02, 95 % confidence interval 1.03-3.01, p = 0.946 for heterogeneity) and the result was turned out to be true positive by trial sequential analysis, even though there were merely two original studies.Conclusions: The results of this meta-analysis suggest that A allele of SNP12 in estrogen receptor 1 may increase the risk of cryptorchidism in Asians. Meanwhile, further well-designed studies with large sample sizes are required to confirm the present findings, especially in Caucasians. [ABSTRACT FROM AUTHOR]

Purpose: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM.Methods: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI). Children surgically treated or not for SCA were compared for age, clinical symptoms and type of anomalies at surgery or at last follow-up, respectively. Moreover, patients with intermediate/high ARMs, with or without SCA were compared for neurogenic bladder (NB), constipation, soiling and need for bowel management (BM).Results: Two hundred and seventy-five children were treated for ARM in the study period, 142 had spinal MRI that showed SCA in 85. Patients with SCA had significantly higher prevalence of preterm birth (p < 0.05), cardiac anomalies (p = 0.02), vertebral anomalies (p = 0.0075), abnormal sacrum (p < 0.0001), and VACTERL association (p = 0.0233). Ten patients were surgically treated for SCA. The prevalence of neurological bladder and neuro-motor deficits, of vertebral and genital anomalies, particularly cryptorchidism, was significantly higher in the operated group (p < 0.01, for each analysis). In patients with intermediate/high ARMs, no significant difference was observed between those with or without SCA, in terms of prevalence of NB, intestinal function and need for BM.Conclusions: In patients with ARM, factors that can predict a higher prevalence of SCA and also determine an increased indication to neurosurgery may be identified. SCA by itself does not seem to affect the functional prognosis of children with intermediate/high ARM. These data may help physicians in stratifying the clinical and diagnostic pathway of patients with ARM. [ABSTRACT FROM AUTHOR]

Background/aim: Undescended testis (UDT) occurs in ~2 % of newborn males, and occasionally these infants also have posterior urethral valve (PUV). The cause of this relationship is uncertain. We aimed to review the literature to identify publications documenting co-occurrence of UDT and PUV, and to summarise the theories of co-occurrence.Methods: A search of the literature (Embase, Medline, Pubmed; 1947-2015) was undertaken to identify publications describing the link between UDT in PUV patients, as well as PUV in UDT patients. Ten publications in English were found with both UDT and PUV: 9 articles describing the frequency of UDT in patients with PUV, and 1 article examining the frequency of PUV in infants with UDT.Results: UDT occurred in 12-17 % of PUV compared with 1-2 % in the control population, consistent with a 10-fold increase. PUV occurred in 1.2 % of UDT patients compared with 0.01 % in the control population, consistent with a 100-fold increase.Discussion: PUV leads to a 10-fold increase in occurrence of UDT, while the presence of UDT causes a 100-fold increase in occurrence of PUV. Four main theories of causation have been proposed, each of which have some merit but little supporting evidence, leaving the cause of simultaneous occurrence of PUV and UDT uncertain. [ABSTRACT FROM AUTHOR]

Purpose: To assess the efficacy of intranasal luteinizing hormone-releasing hormone (LHRH) therapy for cryptorchidism. Materials and methods: Eligible studies were identified by two reviewers using PubMed, Embase, and Web of Science databases. Primary outcomes were complete testicular descent rate, complete testicular descent rate for nonpalpable testis, and pre-scrotal and inguinal testis. Secondary outcomes included testicular descent with different medicines strategy and a subgroup analysis. Results: Pooled data including the 1255 undescended testes showed that complete testicular descent rate was 20.9 % in LHRH group versus 5.6 % in the placebo group, which was significantly different [relative risk (RR) 3.94, 95 % confidence interval (CI) 2.14-7.28, P < 0.0001]. There was also a significant difference in the incidence of pre-scrotal and inguinal position testis descent, with 22.8 % in the LHRH group versus 3.6 % in the placebo group (RR 5.79, 95 % CI 2.94-11.39, P < 0.00001). However, side effects were more frequent in the LHRH group (RR 2.61, 95 % CI 1.52-4.49, P = 0.0005). There were no significant differences for nonpalpable testes. Conclusions: LHRH had significant benefits on testicular descent, particularly for inguinal and pre-scrotal testes, which was also accompanied by temporary slight side effects. [ABSTRACT FROM AUTHOR]

Background: Undescended testis (UDT) is one of the most common congenital abnormalities with a prevalence of about 1 % at the age of 1 year. UDT is associated with an increased risk of testicular tumours and infertility. Aims: The aim of this study was to assess who is carrying out paediatric orchidopexy in Ireland. Methods: A survey was distributed via Survey Monkey to all Consultant Paediatric Surgeons and Urologists in Ireland. Results: Twenty-seven (64.3 %) urologists and five (71.4 %) paediatric surgeons responded to our online survey. Of the urologists, 100 % reported formal training in paediatric orchidopexy. Eight (29.6 %) underwent a dedicated paediatric fellowship. 13 (48.1 %) currently perform paediatric orchidopexy. Nine (33 %) think it should be carried out by a urologist, whereas eight (29.6 %) think it should be carried out by paediatric surgeon. The mean age at which urologists think an orchidopexy for UDT should be performed by was 18 months (range 1-4 years). Approximately 400 orchidopexies are performed per year by the surveyed urologists. Of the paediatric surgeons, three (60 %) feel it should be carried out by a paediatric surgeon whereas two (40 %) feel it does not matter. All paediatric surgeons feel it should be performed by 1 year of age. Approximately 700 orchidopexies are performed per year by the surveyed paediatric surgeons. Conclusion: UDT is a concerning condition which requires intervention at an early stage. Dedicated training in core paediatric procedures is required to continue to meet this need for the future to prevent delayed orchidopexy and resultant increased risk of testicular tumours. [ABSTRACT FROM AUTHOR]

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

Purpose: The aim of this study was to investigate the effects of gonadotropin releasing hormone analog (GnRHa) therapy on normalized testicular atrophy index (TAIn) using gonadorelin before and after orchiopexy. Methods: 62 infants with 87 undescended testes (UDT) were prospectively assigned to two homogeneous groups according to age, position of UDT and TAIn. The patients were randomized to receive either orchiopexy alone or orchiopexy combined with GnRHa as nasal spray at 1.2 mg daily for 4 weeks before surgery and 4 weeks after surgery. Surgical approaches were relative to the position of the UDT: Shoemakers technique in proximal-UDT and Bianchi technique in distal-UDT. All the patients were evaluated clinically and sonographically 1 month before surgery, at the time of surgery, 1 month, 6 months and 5 years after surgery. Results: Ultrasound data in our study have shown a statistically significant decrease of TAIn in children given additional HT only after 5 years of follow-up, in unilateral cases and in the entirety of treated patients; in bilateral cases this difference was not statistically significant. Conclusion: Patients with a TAIn >20 % treated with preoperative and post-operative GnRHa therapy have a significant increase in testicular volume after 5 years of follow-up, as shown by the relative reduction of TAIn values. [ABSTRACT FROM AUTHOR]

Primary care physicians are generally the first contacts of the parents of children with any disease. Management protocols and methods of the surgical conditions in children have undergone changes over time and the aim of this review is to update the knowledge base of clinicians. New technologies like laparoscopy and endoscopic surgery are available for management. The optimal treatment of any surgical condition requires that appropriate procedure is performed at the optimal time by a pediatric surgeon who is best trained for management of these conditions. [ABSTRACT FROM AUTHOR]