Ubiquitin carboxy-terminal hydrolase L1 - physiology and pathology.

Ubiquitin C-terminal hydrolase 1 (UCHL1) is an enzyme unique for its multiple activity - both ligase and hydrolase. UCHL1 was first identified as an abundant protein found in the brain and testes, however its expression is not limited to the neuronal compartment. UCHL1 is also highly expressed in carcinomas of various tissue origins, including those from brain, lung, breast, kidney, colon, prostate, pancreas and mesenchymal tissues. Loss-of-function studies and an inhibitor for UCHL1 confirmed the importance of UCHL1 for cancer therapy. So far biological significance of UCHL1 was described in the following processes: spermatogenesis, oncogenesis, angiogenesis, cell proliferation and differentiation in skeletal muscle, inflammation, tissue injury, neuronal injury and neurodegeneration.

Plasma concentration of MMP-1 and MMP-2 in boys with cryptorchidism and its lack of correlation with INSL3 and inhibin B.

The matrix metalloproteinases are enzymes capable of remodeling of extracellular matrix, and modulate the behavior of cells. Maturation of gubernaculum and spermatogenesis demand proper equilibrium of metalloproteinases and their inhibitors. The aim of this survey was to investigate the levels of matrix metalloproteinase type 1 (MMP-1) and matrix metalloproteinase type 2 (MMP-2) in the plasma of children with unilateral cryptorchidism along with levels of Insulin-like Peptide 3 (INSL3) and inhibin B. INSL3 have a role in gubernaculum development. Inhibin B is produced by Sertoli cells, and its levels reflect the status of the testis germinative epithelium. Fifty boys with an undescended testicle, aged 1-4 years (median = 2.4 years) were enrolled into the study. Fifty boys with inguinal hernia aged 1-4 years, served as controls (median age = 2.1 years). Investigators assessed the MMP-1 and MMP-2 concentrations using Surface Plasmon Resonance Imaging. The levels of INSL-3 and inhibin B were assessed using commercial enzyme-linked immunosorbent assay ELISA. The median concentration of MMP-1 and MMP-2 in the blood plasma of patients with unilateral cryptorchidism, was nearly 2-folds higher than in controls. The great area under the ROC curve with the cut off value of 0.865 for MMP-1, and 0.819 for MMP-2, indicates the high clinical sensitivity and specificity of the test of plasma levels of MMP-1 and MMP-2 for boys with cryptorchidism. The increased plasma levels of MMP-1 and MMP-2, probably reflect the level of apoptosis of the germ cells in undescended testicles, in response to the heat stress during the period of prepubertal testis development. In the group of cryptorchid boys, we found slightly lower concentrations of INSL3, without statistical significance and without correlation with MMP-1 and MMP-2 levels. There were no significant differences in the levels of inhibin B in the group of boys with cryptorchidism and boys with inguinal hernia and it also did not correlate with MMP-1 and MMP-2 concentrations.

Situation of Pediatric Patients with Testicular Torsion in Times of COVID-19.

PURPOSE: To assess whether the COVID-19 pandemic had an influence on presentation of testicular torsion and/or increase in the frequency of orchiectomy. Patients and Methods. This retrospective study included boys under 18 years of age with testicular torsion divided in two groups: pre-COVID operated in 2019 vs. COVID-19 group from 2020. We compared demographic data as well as local and general symptoms. We analyzed additional tests, intraoperative findings, length of operation and hospitalization, and followup. Results. We analyzed the data collected from 44 patients (24 boys from first group vs. 20 boys from second group). The median age was 13.4 years vs. 14.5 years in the latter. The median time of symptoms duration was 6.5 hours and 8.5 hours, respectively. The main manifestation was testicular pain without additional signs. The results of the laboratory tests did not reflect local advancement. In the 2019 group, Doppler ultrasound showed absent blood flow in the affected testicle in 62% vs. 80% in 2020. The mean time from admission to surgery was virtually identical: 75 minutes in 2019 vs. 76 minutes in 2020. The mean duration of scrotal revision was similar in both groups. There was only one significant difference: the degree of twisting. In 2019, the mean was 360° vs. 540° in 2020. Incidence of orchiectomy also did not significantly vary between the analyzed time periods, with 21% during the pandemic and 35% during the pre-COVID-19 period. Conclusion. We did not observe an increase in the number of testicular torsion cases during the COVID-19 pandemic. Most importantly, the rates of orchiectomy did not significantly differ between the patients with testicular torsion presenting during the COVID-19 outbreak.

Expression of estrogen receptors α and ß in paratesticular tissues in boys operated on for unilateral cryptorchidism between the 1st and 4th years of life.

BACKGROUND: The aim of this study was to assess the expression of estrogen receptors alpha and beta in paratesticular tissues in a group of boys with and without cryptorchidism, and evaluation of karyotypes, localization, morphology and the major length of the undescended testes. MATERIAL/METHODS: Fifty boys (1-4 years old) with unilateral cryptorchidism were evaluated. Fifty healthy boys within the same age range, with inguinal hernia, served as a control group. Measurements concerning expression of ERalpha ERbeta receptors were preformed using monoclonal mouse antibodies against human receptor alpha and beta. RESULTS: In the mesothelial layer, the expression of ERalpha was higher in the patients group with undescended testes and it was statistically significant (p=0.04). There was no difference in the expression of ERbeta in this layer between groups. In the stromal cell layer there was statistically significant higher expression of ERbeta (p<0.05) in the group of patients with undescended testes. CONCLUSIONS: There was no difference between expressions of ERalpha in stromal cell layer. In the endothelial layer there was no difference in expression of ERalpha and ERbeta. In the smooth muscle layer there was no expression of ERalpha in either group. The expression of ERbeta in the smooth muscle layer was nearly identical in both groups. Undescended testes were generally found in the superficial inguinal pouch (n=46). The major lengths of the undescended testes were smaller in comparison to the testes positioned normally. In 9 of the cases the testes had different shape, and turgor deficit, and epididymides were smaller, dysplastic and separated from the testis.

Anti-Müllerian hormone levels in serum 1 year after unilateral orchiopexy.

The aim of this study was to determine the serum anti-Müllerian hormone (AMH levels) in a group of boys with cryptorchidism before and 1 year after surgery. Additionally, the effect of orchiopexy, based on the testicular position and morphology, was evaluated. Fifty boys who were 1-4 years old (median, 2.4 years) with unilateral cryptorchidism were evaluated before and 1 year after they underwent orchiopexy. Prior to the procedure, all of the patients had undergone karyotyping to exclude chromosomal abnormalities. Blood samples were collected while obtaining blood for standard laboratory tests routinely performed just before and 12 months after surgery. Twelve months after the orchiopexy, in most cases surgically treated testes were in the middle or lower pole of the scrotum. The descended glands were of comparable size and density in comparison with the testes on the opposite side. In the treated children, serum AMH levels measured at 12 months after orchiopexy were similar to preoperative basal levels. The authors found that AMH levels in children with unilateral undescended testes do not change significantly 1 year after surgical procedure. We still do not have trustworthy factors to predict fertility in children affected with cryptorchidism. We observed an upward trend in AMH concentration 1 year after orchiopexy, but it was statistically insignificant. Therefore, we plan further measurements of AMH in boys after orchiopexy to assess the influence of this procedure on gonadal function.

Plasma concentration of Bisphenol A and leptin in patients with meningioma and glioma: A pilot study.

PURPOSE: Recent increase in incidence of meningiomas suggests the need to search for new risk factors. Leptin, a potentially pro-angiogenic and proliferative agent, could be a candidate for this role, as its expression correlates with body mass index (BMI). Because development of meningioma has also been linked to sex hormones, bisphenol A (BPA), a known xenoestrogen, can also be taken into consideration as a potential risk factor. The aim of this study was to determine plasma concentrations of both substances in patients with meningiomas and to match it to patients with gliomas - a group of brain tumors less hormone- and BMI-dependent. MATERIALS & METHODS: Concentrations of BPA and leptin were measured in plasma of 24 patients with low grade meningioma and in 29 patients with glioma, using gas chromatography-mass spectrometry (GC-MS) and ELISA kits, respectively. The concentrations of both substances in patients with neoplasms were interpreted in relation to their concentration in healthy population, published in recent reports. RESULTS: Free and conjugated BPA were present in both meningioma and glioma patients. Moreover, their concentrations far exceeded those reported in the healthy population. Nevertheless, the level of leptin revealed to be significantly higher in meningioma patients than in glioma patients. CONCLUSIONS: Occurrence of both meningioma and glioma may be accompanied by increased concentrations of leptin and BPA. Further large-scale studies are needed to clarify whether the presence of both substances may play a role in pathogenesis or influence clinical course in patients with brain neoplasms.

Identification of the Bisphenol A (BPA) and the Two Analogues BPS and BPF in Cryptorchidism.

Objective: to explore the association of plasma concentrations of bisphenol A (BPA), bisphenol S (BPS), and bisphenol F (BPF) with unilateral cryptorchidism. In addition, to analyze selected demographic and intraoperative characteristics. Design: Retrospective analysis to determine plasma concentrations of total BPA, BPS and BPF using gas chromatography - mass spectrometry (GC-MS) among prepubertal boys with cryptorchidism and prebupertal male control subjects. During operation, the size, turgor and location of the cryptorchid testes were assessed. Main Outcome Measure: Plasma concentrations of total BPA, BPS and BPF. Results: In children with cryptorchidism, plasma levels of BPA, BPS and BPF were significantly higher compared to the control subjects. For BPA, it was: median value: 9.95 ng/mL vs. 5.54 ng/mL, p<0.05. For BPS, it was: median value: 3.93 ng/mL vs. 1.45 ng/mL, p<0.001. For BPF, it was: median value: 3.56 ng/mL vs. 1.83 ng/mL, p<0.05. In cryptorchid group, BPA was detected in 61.4% samples, BPS in 19.3% and BPF in 19.3%. All the three bisphenols were detected in plasma samples of both the healthy subjects and the study cohort. In the latter group, we found significant higher levels of BPA in boys from urban areas. We found a weak positive correlation between the levels of BPS and BPF and reduced turgor of the testes. Furthermore, results showed weak positive correlations between BPA and BPS levels and the age of the children as well as between BPS and BPF concentrations and the place of residence. Conclusions: Results provide a first characterization of prepubertal boys suffering from cryptorchidism and exposed to different kind of bisphenols. Our study suggests that cryptorchid boys are widely exposed to BPA and, to a lesser extent, also to its alternatives, such as BPS and BPF.

Impact of the SARS-CoV-2 pandemic on the course and treatment of appendicitis in the pediatric population.

SARS-CoV-2 is a highly contagious virus causing mainly respiratory track disease called COVID-19, which dissemination in the whole world in the 2020 has resulted in World Health Organisation (WHO) announcing the pandemic. As a consequence Polish Government made a decision to go into a lockdown in order to secure the population against SARS-CoV-2 outbreak what had its major influence on the Polish Health Care System. All of the social and medical factors caused by the pandemic might influence children's health care, including urgent cases. The aim of this survey was the analysis of medical charts with focus on the course and results of surgical treatment of children who underwent appendectomy before and during the COVID-19 pandemic. Material and methods: We performed analysis of charts of 365 subjects hospitalized in the Pediatric Surgery Department from 1st January 2019 to 31st December 2020 because of acute appendicitis. Patients were divided into two groups-those treated in 2019-before pandemic outbreak, and those treated in 2020 in the course of pandemic. Results: the most common type of appendicitis was phlegmonous (61% of cases in 2019 and 51% of cases in 2020). Followed by diffuse purulent peritonitis (18% of cases in 2019 vs 31% of cases in 2020), gangrenous (19% of cases in 2019 vs 15% of cases in 2020) and simple superficial appendicitis (1% of cases in 2019 vs 3% of cases in 2020). There was statistically significant difference in the length of hospitalization: in 2019 the mean length of hospi-talization was 4.761 vs 5.634 in 2020. Laparoscopic appendectomy was performed more frequently before the COVID period (63% of cases treated in 2019 vs 61% of cases treated in 2020). In the pandemic year 2020, there was double increase in the number of conversion from the laparoscopic approach to the classic open surgery. In the year 2019 drainage of abdominal cavity was necessary in 22% of patients treated with appendectomy, in 2020 the amount of cases threated with appendectomy and drainage increased to 32%. Conclusions: fear of being infected, the limited availability of appointments at General Practitioners and the new organisation of the medical health care system during pandemic, delay proper diagnosis of appendicitis. Forementioned delay leads to higher number of complicated cases treated with open appendectomy and drainage of abdominal cavity, higher number of conversions from the laparoscopic to classic open technique, and longer hospitalization of children treated with appendectomy in the year of pandemic.

Effects of combined Pulsed Dye Laser and Fractional CO2 Laser treatment of burn scars and correlation with plasma levels of collagen type I, MMP-2 and TIMP-1.

Hypertrophic burn scars remain a significant burden for patients and a challenge for clinicians. THE AIM: Assessement of the efficacy of combined Pulsed Dye Laser and Ablative Fractional CO2 Laser therapy on hyperthophic scars and correlation with plasma levels of MMP-2, TIMP-1 and alpha-1 type I collagen. PATIENTS AND METHODS: Twenty five pediatric subjects were enrolled into the study. Control group consisted of age-matched subjects admitted for surgical repair of inguinal hernia. For the assessment of the results of laser treatment we used the Vancouver scar scale (VSS), and Patient-Observer Scar Assessment Scale (POSAS). We also correlated clinical results with plasma levels of MMP-2, TIMP-1 and alpha-1 type I collagen. RESULTS: All subjects reported the laser treatment resulted in improvement and were somewhat satisfied or very satisfied with their experience. No adverse events were reported. The levels of MMP-2, TIMP-1 and alpha-1 type I collagen in our patients with scars before laser threatment were higher in comparison to controls. We also found statistically significant decrease in the levels of MMP-2, TIMP-1 and alpha-1 type I collagen after laser treatment of burn scars CONCLUSIONS: Our study clearly shows that combined CO2-AFL treatment for burn scars improve texture, colour, function and alleviate pruritus. We believe that decrease in the levels of MMP-2, TIMP-1 and alpha-1 type I collagen after laser treatment of burn scars, reflects reduced dynamic of scar.

Is Testicular Torsion a Real Problem in Pediatric Patients With Cryptorchidism?

Purpose: To present management and outcomes of patients with cryptorchidism suffering from testicular torsion. Methods: This is a retrospective review of pediatric patients with torsion of undescended testes, who were treated between 2009 and 2019. We recorded: the age, symptoms, duration of torsion, results of physical examination, surgery findings, and additional treatment. Additionally, an extensive online literature search, from 2015-2020, was performed to identify other similar case series. Results: We identified 9 boys with torsion of the undescended gonad, which represented 4.7% of all 192 boys with testicular torsion. The mean age of boys with torsion of undescended testis was 8.7 years. The mean duration of symptoms in our study group was long and it was up to 28.5 h. All patients had inguinal canal exploration. In eight cases, testicular necrosis and primary orchidectomy was performed. Furthermore, 45 cases were identified in the literature and reviewed. Conclusion: According to clinical experience and available studies, torsion of male undescended gonads is a comparatively rare condition. Nevertheless, diagnosis is still delayed and connected with inevitable orchidectomy.

Plasma level of laminin 5 and collagen IV in cryptorchidism.

PURPOSE: Laminin 5 and collagen IV are the main compounds of the extracellular matrix of the germinal epithelium. The purpose of this study was to evaluate the concentration of these two markers of fibrosis in the plasma of boys with congenital unilateral cryptorchidism. MATERIALS AND METHODS: The study group comprised 43 boys aged 1-3 years with congenital unilateral cryptorchidism. The control group included 54 healthy, age matched boys, admitted for planned hernioplasty. To assess laminin 5 and collagen IV in the plasma of boys with unilateral cryptorchidism, we used a new biosensor with Surface Plasmon Resonance Imaging technique detection. RESULTS: The median concentration of laminin 5 and collagen IV in the serum of boys with congenital, unilateral cryptorchidism was higher than in boys with normal scrotal testis. The difference was statistically significant (p < 0.0001). We did not notice a correlation between a higher position of the testicles in the inguinal and/or their condition and levels of laminin 5 and collagen IV in the plasma. CONCLUSION: Laminin 5 and collagen IV concentrations in the plasma were higher in patients with congenital unilateral cryptorchidism. We believe that in the future, our results could be compared with fertility level in adulthood.

The Impact of Bisphenol A on Fertility, Reproductive System, and Development: A Review of the Literature.

Bisphenol A (BPA) has been used since the 1950s, in food packaging, industrial materials, dental sealants, and personal hygiene products. Everyone is exposed to BPA through skin, inhalation, and digestive system. BPA disrupts endocrine pathways, because it has weak estrogenic, antiandrogenic, and antithyroid activities. Despite the rapid metabolism, BPA can accumulate in different tissues. Many researchers proved the impact of BPA on human development, metabolism, and finally reproductive system. There is increasing evidence that BPA has impact on human fertility and is responsible for the reproductive pathologies, e.g., testicular dysgenesis syndrome, cryptorchidism, cancers, and decreased fertility in male and follicle loss in female.

Traumatic evisceration after blunt trauma in a 20-month-old boy.

Blunt traumatic evisceration is extremely rare. We describe the case of a 20-month-old boy with stomach and small and large intestine evisceration after blunt trauma. Immediate laparotomy and surgical repair were performed. There was no injury, other than a small hole in the mesentery. The bowels were drained into the abdominal cavity, and the skin was closed. The patient recovered well.

Determination of the concentration of cathepsin B by SPRI biosensor in children with appendicitis, and its correlation with proteasomes.

BACKGROUND: Cathepsin B (CatB) belongs to a family of lysosomal cysteine proteases and plays an important role in intracellular proteolysis. OBJECTIVES: The concentration of CatB and 20S proteasome was evaluated in the serum of children with appendicitis, before and after surgery, on a basis of an innovative method for determining biomolecules concentration - surface plasmon resonance imaging (SPRI) biosensor. MATERIAL AND METHODS: Forty-two children with acute appendicitis, who were treated at the Department of Pediatric Surgery (Medical University of Bialystok, Poland), were randomly included into the study (age: 5-17 years, mean age: 11.5 ±1 year). There were 15 girls and 27 boys in the study group. Eighteen healthy, age-matched subjects, admitted for planned surgeries, served as controls. Exclusion criteria were the following: severe preexisting infections, immunological or cardiovascular diseases that required longterm medication, and complicated cases of appendicitis with perforation of the appendix and/or peritonitis. RESULTS: The CatB concentrations in the blood plasma of patients with acute appendicitis were elevated before surgery, they were the highest 24 h after surgery, and were above the range of concentrations measured in controls; the difference was statistically significant. The CatB concentration measured 72 h after the operation was decreased, but still did not reach the normal range when compared with the concentration measured in controls (p < 0.05). CONCLUSIONS: Cathepsin B concentration may reflect the metabolic response to acute state of inflammation, surgical intervention in the abdominal cavity and the process of gradual ebbing of the inflammation. The method of operation - classic open appendectomy or laparoscopic appendectomy - does not influence the general trend in the CatB concentration in children with appendicitis. There is a strong positive correlation between the CatB and 20S proteasome concentrations 24 h after surgery. The SPRI method can be successfully used for determining the concentration of active forms of enzymes presented in lysosomes in the diagnosis of inflammatory conditions in the abdominal cavity.

Overexpression of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) in boys with cryptorchidism.

BACKGROUND: The ubiquitin-proteasome system regulate p53, caspase and Bcl-2 family proteins, and is crucial for the degradation of the defective germ cells in testes. Purpose: to evaluate the concentration of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) in the blood plasma of boys with cryptorchidism and if there is any correlation with patient age. METHODS: Patients-50 boys aged 1-4 years (median = 2,4y.) with unilateral cryptorchidism. Exclusion criteria were: previous human chorionic gonadotropin treatment, an abnormal karyotype, endocrine or immunological disorders or any long-term medication. The control group-50 healthy, age matched boys (aged 1-4 years, median = 2,1y.), admitted to the Pediatric Surgery Department for planned herniotomy. To investigate UCHL1 in blood plasma of boys with cryptorchidism, we used a novel technique Surface PLASMON RESONANCE Imaging (SPRI). RESULTS: The median concentration of UCHL1 in the blood plasma of boys with cryptorchidism, was 5-folds higher than in boys with inguinal hernia, whose testicles were located in the scrotum. We also noticed statistically significant difference between UCHL1 levels in boys with cryptorchidism up to 2 years old, and above 2 years old. Older boys, whose testicles since birth were located in the inguinal pouch or in the abdominal cavity, had higher concentration of UCHL1 in their blood plasma, than boys from younger group. In the group of cryptorchid boys, we also found slightly lower concentrations of INSL3, without statistical significance and no correlation with UCHL1 levels. CONCLUSIONS: Uchl1 concentrations in the blood plasma of boys with cryptorchidism, may reflect the heat-induced apoptosis of germ cells. Higher UCHL1 concentrations in older boys with undescended testicles, probably express intensity of germ cell apoptosis, more extensive when testicles are subjected to heat-stress for longer period. Further analyses of UCHL1 may help to elucidate its role in mechanisms influencing spermatogenesis.

Matrix metalloproteinase-2 and its correlation with basal membrane components laminin-5 and collagen type IV in paediatric burn patients measured with Surface Plasmon Resonance Imaging (SPRI) biosensors.

The purpose of this study was the determination of matrix metalloproteinase-2 and its correlation with basal membrane components laminin-5 and collagen type IV in the blood plasma of burn patients measured with Surface Plasmon Resonance Imaging (SPRI) biosensors. MATERIAL AND METHODS: 31 children scalded by hot water who were managed at the Department of Paediatric Surgery between 2014-2015, after primarily presenting with burns in 4-20% TBSA were included into the study (age 9 months up to 14 years, mean age 2,5+1 years). There were 10 girls and 21 boys. Venous blood samples were drawn 2-6h, and 12-16h after the thermal injury, and on the subsequent days 3, 5 and 7. The matrix metalloproteinase-2, collagen type IV and laminin-5 concentrations were assessed using Surface Plasmon Resonance Imaging by the investigators blinded to the other data. RESULTS: The MMP-2, laminin-5 and collagen type IV concentrations in the blood plasma of patients with burns, were highest 12-16h after thermal injury, the difference was statistically significant. The MMP-2, laminin-5 and collagen type IV concentrations measured 3 days, 5 days and 7 days after the thermal injury, slowly decreased over time, and on the 7th day reached the normal range, when compared with the concentration measured in controls. CONCLUSION: Current work is the first follow-up study regarding MMP-2 in burns. MMP-2, laminin-5 and collagen type IV levels were elevated early after burn injury in the plasma of studied patients, and were highest 12-16h after the injury. MMP-2, laminin-5 and collagen type IV levels were not proportional to the severity of the burn. We believe in the possibility that the gradual decrease of MMP-2, collagen type IV and laminin-5 concentrations could be connected with the process of healing, but to prove it, more investigation is needed in this area. The SPR imaging biosensor is a good diagnostic tool for determination of MMP-2, laminin-5 and collagen type IV in blood plasma of patients with burns.

Immunoproteasome in the Plasma of Pediatric Patients With Moderate and Major Burns, and Its Correlation With Proteasome and UCHL1 Measured by SPR Imaging Biosensors.

The aim of this study was to determine the immunoproteasome concentration in blood plasma of pediatric patients with moderate and major burns and its correlation with circulating proteasome and ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) with surface plasmon resonance imaging biosensor. The study population comprised of 30 patients with moderate (n = 21) and severe burns (n = 9), aged 9 months to 14 years. The control group represented 18 healthy, age-matched patients, admitted for herniotomy. Exclusion criteria were as follows: admission to the hospital later than 6 hours after burn, cardiovascular or immunological diseases, and severe preexisting infections. Mean concentrations of immunoproteasome, 20S proteasome, and UCHL1 in the blood plasma of children with burns-4 to 6 hours, 12 hours, 3 days, 5 days, and 7 days after thermal injury-were above the levels measured in controls. The immunoproteasome, 20S proteasome, and UCHL1 concentrations in the blood plasma of their patients were highest 12 hours after burn, slowly decreased over time, and on the 5th day still were higher than in controls (P < .05). There was a strong correlation between immunoproteasome and 20S proteasome concentrations 6 hours and 5 days after burn, and moderate correlation 12 hours after burn (P < .05). The immunoproteasome concentration is elevated after burn injury and slowly reaches the normal range during the wound healing process. There is strong correlation between immunoproteasome and 20S proteasome concentrations in the serum of children with moderate and major burns. They did not find such correlation between immunoproteasome and UCHL1 concentrations. Immunoproteasome concentration do not correlate with age or sex.

Are anti-Müllerian hormone and its receptor polymorphism associated with the hormonal condition of undescended testes?

PURPOSE: Numerous genetic and endocrine factors are involved in the process of testicular descent, but only a few genetic causes have been reported in human. The aim of this study was to investigate the density and distribution of single nucleotide polymorphisms (SNPs) anti-Müllerian hormone (AMH) and AMHRII receptors in cryptorchid patients and determine potential hormone imbalance connected with undescended testes by assessing the levels of AMH, Insulin-like factor 3 (INSL3) and inhibin B. MATERIALS AND METHODS: The serum hormone levels (AMH, INSL3 and inhibin B) were compared in the two groups - cryptorchidism (n=105) and control group (n=58). The frequency of AMHRII -482 A>G, AMHRII IVS 10+77 A>G, AMHRII IVS 5-6 C>T, and AMH Ile49Ser polymorphisms among cryptorchid boys were compared with the control group. RESULTS: None of the hormones levels were different between the cryptorchid and the control groups. All cases of IVS 5-6 C>T homozygote and heterozygote mutation were accompanied by an IVS 10+77 A>G and 482 A>G homozygote and heterozygote mutation. Interestingly, in most cases of all four polymorphisms, homozygote recessive genotype was associated with cases of cryptorchidism. However, the groups of patients were too small to draw definite conclusions. CONCLUSION: The AMHRII -482 A>G, AMHRII IVS 10+77 A>G, AMHRII IVS 5-6 C>T and AMH Ile49Ser genotypes should be determined in a much larger group of boys with cryptorchidism.

Putting the pieces together: cryptorchidism - do we know everything?

Cryptorchidism is one of the most common birth defects in male children, and it has a potential impact on future health. It is the best-characterized risk factor for reduced fertility and testicular cancer. However, the etiology of cryptorchidism remains largely unknown. In the literature, we find different opinions and theories on this topic. Probably, the etiology is multifactorial, and hormonal, genetic and environmental factors may regulate testicular development and descent from intra-abdominal location into the bottom of the scrotum. The descent of the testis is a complex, two-stage process. A critical role in testicular descent has been attributed to androgens, insulin-like hormone 3 (insl3) and anti-Müllerian hormone. It is believed that interaction between Leydig and Sertoli cells may cause impaired spermatogenesis. Based on recent knowledge of germ cell development, it is believed that the best treatment for undescended testis is orchiopexy between 6th and 12th month of life. Long follow-up studies are needed to focus on the effect of this recommendation.

Serum Bisphenol A Level in Boys with Cryptorchidism: A Step to Male Infertility?

Cryptorchidism is the most common congenital birth defect in boys and affects about 2-4% full-term male neonates. Its etiology is multifactorial. Purpose. To evaluate the serum bisphenol A (BPA) levels in boys with cryptorchidism and healthy boys and to assess the risk of environmental exposure to BPA using the authors' questionnaire. The data were acquired from a study on boys with cryptorchidism (n = 98) and a control group (n = 57). Prior to surgery, all patients had BPA serum levels evaluated. The size, position, rigidity of the testis, and abnormality of the epididymis of the undescended testis were assessed. Parents also completed a questionnaire on the risks of exposure to BPA in everyday life. Results. The testes in both groups were similar in size. The turgor of the undescended testis in the group of boys with cryptorchidism was decreased. Free serum BPA level in cryptorchid boys and in the control group was not statistically significant (p > 0.05). The conjugated serum BPA level in cryptorchid boys and in the control group was statistically significant (p ≤ 0.05). Total serum BPA level in cryptorchid boys and in the control group was statistically significant (p < 0.05). Serum total BPA level was related with a positive answer about problems with conception (p < 0.02). Conclusion. Our study indicated that high serum BPA was associated with cryptorchidism.