Diagnoses and Treatment of Acquired Undescended Testes: A Review.

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

Obliteration of the Processus Vaginalis After Testicular Descent

The testis develops in the abdominal cavity and descends into the scrotum. Although numerous theories have been proposed, the mechanism of descent and the reason for its inhibition remain unknown. Furthermore, none of the explanations account for the other occurrences related to the descent, such as failed obliteration of the processus vaginalis, or the reasons for the decrease in fertility and increase in the risk of malignancy associated with an undescended testis. The gubernaculum is a primitive mesenchymal tissue that was first described in 1786. However, the role of the gubernaculum in the descent process remains obscure. The testis descends through the processus vaginalis. Although the processus vaginalis (PV) is usually defined as a simple peritoneal protrusion, it actively develops into the gubernaculum. The gubernaculum gives rise to the smooth muscles that surround the processus vaginalis. The striated cremaster muscle (CM) is also derived from the gubernaculum. Because the testis descends through the processus vaginalis, the muscles develop to propel the testis. After propelling the testis, the smooth muscle (SM) undergoes programmed cell death. The initiation of programmed cell death through the intrinsic pathway requires activation of phospholipase C. A transient shift in the autonomic balance via a decrease in the sympathetic tonus and an increase in the parasympathetic tonus is essential for initiating this programmed cell death. Programmed cell death in the SM is the physiological pathway for the obliteration of the processus vaginalis. Differences in the timing, intensity, or duration of this physiological pathway result in pathological conditions. A shift before testicular descent diminishes the SM content that is required to propel the testis, and thus inhibits descent. The early shift persists throughout childhood and results in the decrease in fertility and increase in the risk of malignancy because of the differences in signal transduction. Despite a successful descent, persistence of the shift alters the contractility of the CM by increasing the cytosolic calcium levels. Contracted CMs retracts or even ascends the testis. Inadequate intensity or duration of the shift of autonomic tonus causes failure of the programmed cell death. Persistence of the SM hinders the obliteration of PV and gives rise to hydroceles or inguinal hernias depending on the amount of residual smooth muscles. Similar findings from different countries support these explanations. Thus, our proposed mechanism satisfactorily explains the process of descent while considering all the factors related to the process of testicular descent.

Mapping of referral patterns for undescended testes - Risk factors for referral of children with normal testes.

BACKGROUND: Accurate referral of boys with suspected undescended testes (UDT) is of importance to preserve fertility and reduce risk of future testicular cancer. While late referral is well studied, there is less knowledge about incorrect referrals, hence, referral of boys with normal testes. OBJECTIVE: To evaluate the proportion of UDT referrals that did not lead to surgery or follow-up, and to assess risk factors for referral of boys with normal testes. STUDY DESIGN: All UDT referrals to a tertiary center of pediatric surgery during 2019-2020 were retrospectively assessed. Only children with suspected UDT in the referral (not suspected retractile testicles) were included. Primary outcome was normal testes at examination by a pediatric urologist. Independent variables were age, season, region of residence, referring care unit, referrer's educational level, referrer's findings, and ultrasound result. Risk factors for not needing surgery/follow-up were assessed with logistic regression and presented as adjusted odds ratios with a 95% confidence interval (aOR, [95% CI]). RESULTS: A total of 378 out of 740 included boys (51.1%) had normal testes. Patients >4 years (aOR 0,53, 95% CI [0,30-0,94]), referrals from pediatric clinics (aOR 0.27, 95% CI [0.14-0.51]) or surgery clinics (aOR 0.06, 95% CI [0.01-0.38]) had lower risk of normal testes. Boys referred during spring (aOR 1.80, 95% CI [1.06-3.05]), by a non-specialist physician (aOR 1.58, 95% CI [1.01-2.48]) or referrer's description of bilateral UDT (aOR 2.34, 95% CI [1.58-3.45]), or retractile testes (aOR 6.99, 95% CI [3.61-13.55]) had higher risk of not needing surgery/follow-up. None of the referred boys that had normal testes had been re-admitted at the end of this study (October 2022). DISCUSSION: Over 50% of boys referred for UDT had normal testes. This is higher or equal to previous reports. Efforts to reduce this rate should in our setting probably be directed towards well-child centers and training in examination of testicles. The main limitation of this study is the retrospective design and the rather short follow-up time, which however should have very modest effect on the main findings. CONCLUSION: Over 50% of boys referred for UDT have normal testes. A national survey regarding the management and examination of boys testicles has been launched and directed at well-child centers to further evaluate the findings of the current study.

Environmental Impacts on Male Reproductive Development: Lessons from Experimental Models.

BACKGROUND: Male reproductive development in mammals can be divided into a gonadal formation phase followed by a hormone-driven differentiation phase. Failure of these processes may result in Differences in Sex Development (DSD), which may include abnormalities of the male reproductive tract, including cryptorchidism, hypospadias, infertility, and testicular germ cell cancer (TGCC). These disorders are also considered to be part of a testicular dysgenesis syndrome (TDS) in males. Whilst DSDs are considered to result primarily from genetic abnormalities, the development of TDS disorders is frequently associated with environmental factors. SUMMARY: In this review, we will discuss the development of the male reproductive system in relation to DSD and TDS. We will also describe the experimental systems, including studies involving animals and human tissues or cells that can be used to investigate the role of environmental factors in inducing male reproductive disorders. We will discuss recent studies investigating the impact of environmental chemicals (e.g., phthalates and bisphenols), lifestyle factors (e.g., smoking) and pharmaceuticals (e.g., analgesics) on foetal testis development. Finally, we will describe the evidence, involving experimental and epidemiologic approaches, for a role of environmental factors in the development of specific male reproductive disorders, including cryptorchidism, hypospadias, and TGCC. KEY MESSAGES: Environmental exposures can impact the development and function of the male reproductive system in humans. Epidemiology studies and experimental approaches using human tissues are important to translate findings from animal studies and account for species differences in response to environmental exposures.

Aryl hydrocarbon receptor activity in human breast milk and cryptorchidism: A case-control study within the prospective Norwegian HUMIS cohort.

BACKGROUND: The etiology of cryptorchidism remains poorly understood. Endocrine disrupting chemicals can impact estrogen signaling by interacting with aryl hydrocarbon receptor (AhR) activity. OBJECTIVE: To evaluate whether AhR activity in breast milk samples is associated with cryptorchidism. METHOD: We conducted a case-control study based on 199 mother-child pairs (n = 91 cases/108 controls) selected from the Norwegian Human Milk Study (2002-2009). We defined cases for cryptorchidism based on maternal reports at 1-, 6-, 12-, and 24- months after birth. Chemically- and biologically stable AhR activity (pg 2,3,7,8-TCDD equivalent (TEQ)/g lipid) was determined by DR- CALUX® assay in the mothers' milk collected at a median of 33 (10th-90th percentile: 18-57) days after delivery. We used multivariate logistic regression to compare AhR activity levels between cases and controls, and linear regression separately, to establish the relationship with the presence of 27 potential EDCs measured in breast milk and AhR activity. RESULTS: The average estimated daily intake (EDI) of dioxin and (dioxin-like (dl)-compounds via breast milk is 33.7 ± 17.9 pg TEQ/kg bodyweight per day among Norwegian children. There were no significant differences in AhR activation in breast milk samples between cases with cryptorchidism and controls. Among the 27 chemicals measured in breast milk, AhR activity was (borderline) significantly associated with all dl-PCBs, three non-dioxin-like (ndl)-PCBs (PCB-74, PCB-180, PCB-194) and two organochlorine pesticides (OCPs; HCB, ß-HCH). No associations between AhR activity and brominated flame retardants (PBDEs) or poly- and perfluoroalkyl substances (PFASs). CONCLUSION: No association between AhR activity and cryptorchidism was found among Norwegian boys. The average EDI of dioxin and dl-compounds in exclusively breastfed Norwegian infants remains above the safety threshold and, therefore requires further reduction measures. Consistent with a possible role in the observed AhR activity, all dl-PCBs were associated with AhR activity whereas the association was null for either PBDEs or PFASs.

Effects of the prenatal environment on cryptorchidism: A narrative review.

Cryptorchidism, the absence of testes from the scrotum, is the most common genital disorder in boys and a risk factor for reduced fertility and testicular cancer. The mechanism responsible for cryptorchidism involves two discrete stages: a transabdominal and an inguinoscrotal phase. These phases of testicular descent are regulated by the prenatal sex hormone environment, including levels of testosterone, insulin-like factor 3, and calcitonin gene-related peptide. Environmental endocrine disruptors, which are unfavorable environmental factors, may also affect testicular descent through prenatal sex hormones. This review examined the effects of environmental factors, particularly environmental endocrine disruptors, such as phthalates, organochlorine pesticides, diethylstilbestrol, bisphenol A, dioxins/dioxin-like compounds, and perfluoroalkyl substances, and parental lifestyles on the risk of cryptorchidism. Although some studies have shown that environmental endocrine disruptors can affect testicular descent by changing the hormonal environment during the prenatal period, no significant association has been established between exposure to environmental endocrine disruptors and the incidence of cryptorchidism. Therefore, the role played by environmental endocrine disruptor exposure (if any) in the pathogenesis of cryptorchidism remains unknown. Further studies are needed to examine these issues.

Acquired undescended testis: When does the ascent occur?

BACKGROUND: Little is known about the timeframe in which acquired undescended testes occur. To guide recommendations for screening examinations, we aimed to (1) specify the ratio of acquired undescended testes in orchiopexy cases and to (2) identify a predisposing age for the development of acquired undescended testis. METHODS: Three-hundred-forty cases of orchiopexy were retrospectively analyzed and classified as congenital or acquired cases of undescended testis. In acquired cases, the time of the last documented physiological testicular position was obtained. The time of testicular ascent was approximated by calculating the mean between the last physiological finding and orchiopexy. RESULTS: In 151 cases (44.4%) prior physiological position of testes was documented and acquired undescended testis was assumed. In 115 of these cases (76.2%) details on the age at last physiological position were available. Ascent occurred between the age of one and fourteen. The 50th, 75th, 85th, 90th and 95th percentile for the estimated age at ascent was 5.8, 7.3, 8.4, 8.7 and 11.1 years, respectively. CONCLUSIONS: Acquired undescended testes are a common cause of cryptorchidism. Ascent occurs throughout all prepubertal ages, emphasizing the need to regular follow-up of testicular position until puberty. TYPE OF STUDY: Prognosis study. LEVEL OF EVIDENCE: Level II.

Lower abdominal and pelvic radiation and testicular germ cell tumor risk.

BACKGROUND: Testicular germ cell tumor (TGCT) incidence has increased in recent decades along with the use and dose of diagnostic radiation. Here we examine the association between reported exposure to diagnostic radiation and TGCT risk. METHODS: We conducted a case-control study of men with and without TGCT recruited from hospital- and population-based settings. Participants reported on exposures to 1) x-ray or CT below the waist and 2) lower GI series or barium enema, which consists of a series of x-rays of the colon. We also derived a combined measure of exposure. We used logistic regression to determine the risk of developing TGCT according to categories of exposures (0, 1-2, or ≥3 exposures) and age at first exposure, adjusting for age, year of birth, race, county, body mass index at diagnosis, family history of TGCT, and personal history of cryptorchidism. RESULTS: There were 315 men with TGCT and 931 men without TGCT in our study. Compared to no exposures, risk of TGCT was significantly elevated among those reporting at least three exposures to x-ray or CT (OR≥3 exposures, 1.78; 95% CI, 1.15-2.76; p = 0.010), lower GI series or barium enema (OR≥3 exposures, 4.58; 95% CI, 2.39-8.76; p<0.001), and the combined exposure variable (OR≥3 exposures, 1.59; 95% CI, 1.05-2.42; p = 0.029). The risk of TGCT was elevated for those exposed to diagnostic radiation at age 0-10 years, compared to those first exposed at age 18 years or later, although this association did not reach statistical significance (OR, 2.00; 95% CI, 0.91-4.42; p = 0.086). CONCLUSIONS: Exposure to diagnostic radiation below the waist may increase TGCT risk. If these results are validated, efforts to reduce diagnostic radiation doses to the testes should be prioritized.

Eight rare urinary disorders in a patient with Kallmann syndrome: A case report.

RATIONALE: Kallmann syndrome (KS) is a rare inherited genetic disorder characterized by hypogonadotropic hypogonadism and hyposmia/anosmia. Early diagnosis is the key to timely treatment and improvement of prognosis in patients with KS. As the most common complication of KS, renal agenesis can provide clues to early diagnosis and treatment for KS. In this article, we report a case of KS with 8 rare urinary disorders for the first time. PATIENT CONCERNS: A 19-year-old Chinese man presented with 8 rare urinary disorders and a history of bilateral cryptorchidism came to us for micropenis, hyposmia, and delayed puberty. DIAGNOSIS: The patient presented with hyposmia, low levels of sex hormones and showed a weak response to the GnRH stimulation test leading to a diagnosis of KS. Two missense mutations were found in further whole-exome sequencing: 1) Kallmann syndrome 1 (KAL1) gene in exon11, c.1600G > A, p. Val534Ile; 2) Prokineticin receptor 2 (PROKR2) gene in exon 2, c.533G > A, p. Trp178Ser. which led to a diagnosis of KS. INTERVENTIONS: The patient underwent replacement therapy of human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG). The patient had previously undergone six surgeries for cryptorchidism and urinary disorders. OUTCOMES: The patient's puberty retardation was effectively alleviated. His serum testosterone (T) reached a normal level (8.280 nmol/mL). During the follow-up period, he presented with Tanner stage II pubic hair development. CONCLUSION: In this article, we report 8 rare urinary disorders with missense mutations of KAL1 and PROKR2 in a case of KS. Among them, bilateral giant kidneys, urinary extravasation of right renal, bilateral megalo-ureters, left ureteral terminal obstruction, bilateral renal cyst and bladder emptying disorder are reported for the first time, which enrich the integrity of urinary disorder types and provide clues to genetic counseling in patients with KS.

A novel method of bilateral patent processus vaginalis ligation in transumbilical single-site multiport laparoscopic orchiopexy.

Objective: To evaluate safety and efficacy of a novel method of bilateral patent processus vaginalis ligation in transumbilical single-site multiport laparoscopic orchiopexy for children. Methods: A retrospective study was carried out comparing the novel ligation and conventional ligation performed by a single surgeon between July, 2017-July, 2018. The patients were divided into the novel group (42 cases) and the conventional group (59 cases). In the novel group, transumbilical single-site multiport laparoscopic orchiopexy was performed and the bilateral internal rings was stitched with "8" pattern suture. In the conventional group, the conventional TriPort laparoscopic orchiopexy was performed and purse string suture was used to fix the internal rings. The parameters of operative duration time, postoperative hospital stay; postoperative complications were compared between 2 groups. Results: All operations were successful. No Perioperative period complications were found and all patients were discharged within 4-6 days after operation. There is no statistic difference in the surgery time and hospitalization day. However, there is significant difference in the Pain face scale scores after day 2(1.60±0.73 VS 2.02±0.86). And there is no scar and the satisfactory cosmetic could be seen in scrotum and inguinal area in the novel group. Conclusion: The novel ligation was safety and efficacy. It is relatively easy to perform with smaller scar and less pain. We propose the novel ligation as a more viable treatment option for pediatric cryptorchidism with bilateral patent processus vaginalis.

The effects of tobacco consumption on paternity rates of adults with a history of cryptorchidism.

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.

[AN ADULT MALE CASE OF CRYPTORCHIDISM CONCOMITANT WITH HYPOGONADOTROPIC HYPOGONADISM WHO UNDERWENT hCG THERAPY AND SHOWED A SPONTANEOUS DESCENT OF THE TESTIS].

A 32-year-old Japanese man was referred to our hospital with a chief complaint of the delayed puberty with having been aware of it since he was in his teens. Physical examination demonstrated the small penis, the impalpable left testis, and the atrophic right testis in the scrotum. Abdominal magnetic resonance imaging showed the left testis of 8 mm in the external inguinal ring. Endocrinological blood tests revealed that testosterone and luteinizing hormone were 0.34 ng/mL and 1 mIU/mL, respectively, leading to a diagnosis of the left cryptorchidism with hypogonadotropic hypogonadism. The hCG therapy was initiated, resulting in the increased volume and spontaneous descent into the scrotum of the left testis after 6 months of the treatment. The hCG therapy could be an alternative treatment for surgery for cryptorchidism with hypogonadism in adults.

Occupational exposure to endocrine-disrupting chemicals and other parental risk factors in hypospadias and cryptorchidism development: a case-control study.

AIM OF THE STUDY: Endocrine-disrupting chemicals (EDCs) are exogenous agents that are capable of altering the endocrine system functions, including the regulation of developmental processes. The aim of this study was to investigate the association between EDC exposure and other parental factors in the etiology of hypospadias and cryptorchidism. METHODS: A case-control study was conducted. Cases (n = 210) were infants aged between 6 months and 14 years diagnosed with hypospadias or cryptorchidism who attended the authors' hospital over a period of 18 months, and controls (n = 210) were infants within the same range of age and without any urological disorders who attended the outpatient clinic of the same hospital during the same time period. Their selection was independent of exposures. Data on parental occupational exposure to EDCs and other sociodemographic variables were collected through face-to-face interviews and systematically for both cases and controls. Crude and adjusted odds ratios (ORs) were estimated to control for confounding with their 95% confidence interval (CI) by means of logistic regressions. Specifically, three final models of a dichotomous outcome were constructed: one for cryptorchidism, one for hypospadias, and the third considering both malformations together. The Hosmer-Lemeshow test was used to assess the goodness of fit of the models. Their discriminatory accuracy (DA) was ascertained by estimating their areas under the receiver operating characteristic curves area under the curve (AUC) along with their 95% CI. RESULTS: Associations were found between advanced maternal age (OR adjusted = 1.82; 95% CI: 1.14-2.92), mother's consumption of anti-abortives (OR = 5.40; 95% CI: 1.40-38.5) and other drugs (OR = 2.02; 95% CI: 1.31-3.16) during pregnancy, maternal and paternal occupational exposure to EDCs (OR = 4.08; 95% CI: 2.03-8.96 and OR = 3.90; 95% CI: 2.41-6.48, respectively), fathers smoking (OR = 2.0; 95% CI: 1.33-2.99), and fathers with urological disorders (OR = 2.31; 95% CI: 1.15-4.90). Maternal and paternal high educational level could be protective of cryptorchidism (OR = 0.47; 95% CI: 0.28-0.76 and OR = 0.63; 95% CI: 0.42-0.93, respectively). The DA of the models for the whole sample (AUC = 0.75; 95% CI: 0.70-0.79) for cryptorchidism (AUC = 0.76; 95% CI: 0.71-0.82) and for hypospadias (AUC = 0.75; 95% CI: 0.69-0.81) was moderately high. CONCLUSIONS: Advanced age, some parental occupational exposure to EDCs, some drug consumption, smoking, and the father's history of urological disorders may increase risk and predict the developments of these malformations. Studies with higher samples sizes are needed to assess associations between individual EDC occupational exposures and drugs and these malformations.

Maternal smoking during pregnancy and risk of cryptorchidism: a systematic review and meta-analysis.

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.

Detection of insulin-like growth factor receptor-1 in the human cremaster muscle and its role in the etiology of the undescended testis.

PURPOSE: Previous studies of undescended testis (UT) has focused on insulin-like hormone 3 (INSL3), the genitofemoral nerve, and androgens in the testicular descent. Leydig cells, which are under the control of insulin-like growth factor-1 (IGF1), produce both androgens and INSL3. We aimed to investigate whether insulin-like growth factor receptor-1(IGFR1) exists in the cremaster muscle (CM) complex and is associated with normally descended testis as well as UT cases in humans. METHODS: We studied 30 CM from 15 patients who comprised the UT group (UTG), and 15 patients with unilateral testicular torsion (Control group; CG). Muscles, nerves, and vessels within the CM specimen were examined to determine the presence of IGFR1. RESULTS: The mean staining score (MSS) of IGFR1 in CM and its nerves were higher in the CG than in the UTG. These results were statistically significant (p = 0.01 and p = 0.02). Although the MSS of IGF1R was higher in the vessels of CM in the CG than the UTG, this was not statistically significant (p = 0.48). CONCLUSIONS: IGFR1 with heterotetrameric receptor via IGF1, IGF2, insulin, and probably androgen, contribute to the remodeling and development of CM as well as the testis descent. In the current study, the presence of the IGFR1 in the CM was shown. Additionally, the IGFR1 density of the CM was lower in the UT cases than in the CG cases. Further evaluation of IGFR1 and other etiological factors can elucidate how they interact.

Acquired undescended testis and possibly associated testicular torsion in children with cerebral palsy or neuromuscular disease.

INTRODUCTION: Torsion of an undescended testis (UDT) associated with cerebral palsy (CP) and neuromuscular disease (NMD) is an uncommon condition that is not well recognized by primary care physicians or healthcare providers. OBJECTIVE: The objective of this study was to highlight the clinical importance of torsion of a UDT in children with CP and NMD. MATERIALS AND METHODS: Eleven children with testicular torsion of a UDT operated on at the study institute between 1991 and 2015 were identified. The records of seven children (63.6%) associated with CP or NMD were retrospectively reviewed. Clinical findings of testicular torsion were assessed along with the treatment outcome and testicular salvageability. RESULTS: All seven children were not identified with a UDT by public health checkup for infant and young children. No children with CP or NMD had torsion of a descended testis during the present study period. Median age at surgery was 15 years (range, 1-20 years). The testis location was at the external inguinal ring in five patients, in the inguinal canal in one, and in the superficial inguinal pouch in one. Of the contralateral testes, four were a UDT, one was a retractile testis, and two were descended testes. Orchiectomy was performed in six patients (85.7%). In the remaining patients, the testis was preserved but became atrophic. DISCUSSION: This study demonstrated that children with CP or NMD may be affected with torsion of a UDT with peak at around puberty with the poor salvage rate, even if the testes appear descended in infancy and young children. Shortcomings of this study were the retrospective design and a small series of children undergoing surgery for torsion of a UDT. CONCLUSION: Pediatric urologists need to educate primary care physicians and healthcare providers in the recognition of acquired UDTs and possibly associated testicular torsion in children with CP and NMD. Genital examination should be continued regularly until adolescence in these children to detect acquired UDT. These children should be referred to pediatric urologists to promote surgery as soon as the diagnosis of acquired UDT is carried out. It is believed that it is perhaps the best approach to prevent loss of the testis in children with CP and NMD.

Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.

Renal cell carcinoma (RCC) accounts for 2-3% of all malignant disease in adults. Hereditary RCC represents 5 to 8% of kidney tumors. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) represents an autosomal dominant syndrome that results from a germline mutation in fumarate hydratase gene (FH). HLRCC patients typically present with skin or uterine leiomyomas and renal neoplasms. HLRCC was recently recognized as a distinct renal tumor subtype by the WHO 2016 classification. Many morphological patterns such as papillary, solid, tubular, and cystic had been described as part of morphological aspects of HLRCC. In this study, we describe a case of a patient that had a history of persistence of ductus arteriosus (PDA) and cryptorchidism. In addition, the renal tumor showed a very unusual hystiocytoid morphological aspect. We confirmed the presence of a FH germline mutation both in the patient and his mother.

[A rare cause of cryptorchidism, the persistence of müllerian ducts syndrome]. / Une cause rare de cryptorchidie le syndrome de persistance des structures müllériennes.

The Persistent Müllerian Ducts Syndrome (PMDS) is a rare congenital syndrome. It is one of abnormalities of genito-sexual development that is found on the normally virilized boy (46XY). It is characterized by the development of both Wolf structures and Müller duct. The pathophysiology can be explained by an action deficit of the anti-müllerian hormone (AMH). Its clinical presentations vary depending on the localization of the testis and the associated symptoms. Its discovery is mostly fortuitous and generally made in per-operative surgery of cryptorchidism or inguinal hernia. Treatment should be surgical. It relies on two aspects : ensuring the testicular descent and performing the excision of the müllerian duct. The follow-up is identical to the cryptorchid testes and the fertility problems will be influenced by the surgical procedure as well as the timing of the treatment.

Le syndrome de persistance des canaux mullériens (PMDS) est un syndrome congénital rare donnant des anomalies du développement génito-sexuel chez le garçon normalement virilisé (46XY). Il se caractérise par le développement à la fois des structures de Wolf et des canaux de Müller. Sa physiopathologie s'explique par un défaut d'action de l'hormone anti-müllérienne (AMH). Il existe différentes présentations cliniques qui varient en fonction de la localisation du testicule et des symptômes associés. Sa découverte est fortuite et généralement faite en per-opératoire d'une chirurgie de cryptorchidie ou d'hernie inguinale. Le traitement doit être chirurgical. Il repose sur deux aspects : assurer la descente testiculaire et réaliser l'exérèse des canaux müllériens. Le suivi est identique à celui d'un testicule cryptorchide et le risque de trouble de la fertilité varie en fonction de l'âge de prise en charge et du geste chirurgical.

Spontaneous renal hemorrhage secondary to choriocarcinoma in a man with congenital hypospadias and cryptorchidism: a case report and literature review.

BACKGROUND: Choriocarcinoma is a rare malignant germ-cell tumour, most commonly found in adult women. It infrequently presents as spontaneous renal haemorrhage (SRH). Genital malformation and SRH secondary to choriocarcinoma has previously been only reported in females. We present what we believe to be the first case of a male patient with genital malformation (hypospadias and cryptorchidism) and SRH at presentation of choriocarcinoma. CASE PRESENTATION: A 25-year-old man presented to the department with intense pain in the right flank region and lower back. Initial investigations showed spontaneous renal haemorrhage, for which an emergency partial nephrectomy was performed. Clinical, radiological, and pathological investigations suggested a diagnosis of testicular choriocarcinoma with metastases to the right kidney, both lungs, and brain. Initial treatment was with a chemotherapy regimen of cisplatin, etoposide and bleomycin and whole brain radiotherapy; however, 6 months after diagnosis the patient developed liver metastasis, after which time the BEP protocol was switched to ITP with oral apatinib. Despite best efforts, the liver and lung metastasis continued to grow and a decision was made to discontinue active treatment and provide only palliative care until the patient passed away. CONCLUSION: Choriocarcinoma is a difficult cancer to diagnose pre-operatively. In male patients with early metastasis, prognosis may be much poorer than in the commoner gestational choriocarcinoma. A multidisciplinary with comprehensive post-surgical intervention is of great importance in the treatment of these patients.