Materiały źródłowe

• #1 Testicular Cancer: Pathogenesis, Diagnosis and Management with Focus on Endocrine Aspects – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK278992/

  Testicular cancer comprises different neoplasms, depending on the cell of origin and the typical age at presentation, but germ cell-derived tumors constitute the vast majority of cases. […] Pathogenesis of TGCT associated with GCNIS partly overlaps with that of other developmental disorders of the male reproductive system within the testicular dysgenesis syndrome (TDS). […] Pathogenesis of testicular germ cell tumors (TGCT) of young adults partly overlaps with that of other developmental disorders of the male reproductive system, within the testicular dysgenesis syndrome (TDS). […] The TGCT of young adults originate from a common precursor, germ cell neoplasia in situ (GCNIS), initially termed carcinoma in situ (CIS) testis. […] GCNIS is considered to originate from developmentally arrested immature germ cells (gonocytes) that fail to differentiate to spermatogonia.

• #1 Testicular cancer – Wikipedia

  https://en.wikipedia.org/wiki/Testicular_cancer

  Most testicular germ cell tumors have too many chromosomes, and most often they are triploid to tetraploid. An isochromosome 12p (the short arm of chromosome 12 on both sides of the same centromere) is present in about 80% of testicular cancers, and also other cancers usually have extra material from this chromosome arm through other mechanisms of genomic amplification. […] A major risk factor for the development of testis cancer is cryptorchidism (undescended testicles). It is generally believed that the presence of a tumor contributes to cryptorchidism; when cryptorchidism occurs in conjunction with a tumor then the tumor tends to be large. Other risk factors include inguinal hernias, Klinefelter syndrome, and mumps orchitis. Physical activity is associated with decreased risk and sedentary lifestyle is associated with increased risk. Early onset of male characteristics is associated with increased risk. These may reflect endogenous or environmental hormones.

• #1 Testicular Cancer: Pathogenesis, Diagnosis and Management with Focus on Endocrine Aspects – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK278992/

  The mechanisms of neoplastic transformation of early germ cell are not known. There is a growing consensus that there may be multiple mechanisms and testicular cancer is a multifactorial and polygenic disorder. […] A disturbance in the fetal programming of gonadal development may be a result of an intrauterine hormonal imbalance, which in turn may be caused by a genetic disorder or by an impact of an exogenous factor targeting a key pathway, e.g., androgen signaling, KIT-KITLG signaling, DMRT1 signaling and regulation of meiosis, the TGF-beta superfamily regulation (including Nodal pathway) or the WNT pathway, leading to a delay in the testis development and maturation of fetal gonocytes.

• #1 Origins and molecular biology of testicular germ cell tumors | Modern Pathology

  https://www.nature.com/articles/3800309

  Testicular germ cell tumors can be divided into three groups (infantile/prepubertal, adolescent/young adult and spermatocytic seminoma), each with its own constellation of clinical histology, molecular and clinical features. […] Several factors have been associated with their pathogenesis, including cryptorchidism, elevated estrogens in utero and gonadal dysgenesis. […] The pathogenesis of prepubertal GCT and SS is poorly understood. […] The relative importance of susceptibility genes vs environmental factors in the etiology of TGCT is a source of great debate among investigators. […] Much stronger associations with the development of TGCT exist with factors such as exposure to high levels of maternal estrogen during pregnancy, neonatal jaundice and low and high birth weights. […] The most widely accepted risk factor for TGCT is cryptorchidism, approximately 10% of the cases having this association.

• #1 Origins and molecular biology of testicular germ cell tumors | Modern Pathology

  https://www.nature.com/articles/3800309

  There is some evidence that testicular maldescent is associated with prenatal exposure to estrogens. […] Patients with various intersex syndromes are at increased risk for the development of TGCT. […] Gonadal dysgenesis in patients who carry a Y chromosome is a significant risk factor for germ cell tumor development. […] If this is true, it suggests that a specific genetic mutation may not be required to initiate the process of tumor development, but rather environmental factors are sufficient as initiating events. […] The initiating genetic events that lead to IGCNU and subsequent invasive GCT have yet to be agreed upon. […] A second and more widely accepted hypothesis is promulgated by Skakkebaek and others. […] This hypothesis is based primarily on immunohistochemical data linking gonocytes to IGCNU, developmental abnormalities associated with GCT and epidemiological data.

• #1 Testicular Cancer: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/279007-overview

  Two models of testicular carcinoma in situ have been proposed. The first posits that fetal gonocytes whose development into spermatogonia is blocked may undergo abnormal cell division and then invasive growth mediated by postnatal and pubertal gonadotropin stimulation. […] The second model postulates that the most likely target cell for transformation is the zygotene-pachytene spermatocyte. During this stage of germ cell development, aberrant chromatid exchange events associated with crossing over can occur. Normally, these cells are eliminated by apoptosis. On occasion, this crossing over may lead to increased 12p copy number and overexpression of the cyclin D2 gene (CCND2). The cell carrying this abnormality is relatively protected against apoptotic death because of the oncogenic effect of CCND2, leading to re-initiation of the cell cycle and genomic instability.

• #1 Infections, tumors and lumps affecting the scrotal content – Clinical Advisor

  https://www.clinicaladvisor.com/features/infections-tumors-and-lumps-affecting-the-scrotal-content/

  Most scrotal-content lesions are benign, cystic and found in the paratesticular tissue. […] The cause of spermatocele development is unknown. One theory is that spermatoceles arise from trauma, infection, or some other inflammatory process. Another hypothesis is the epididymal ducts become obstructed, causing proximal dilation; obstruction is secondary to epithelium continually shedding immature germ cells that deposit in the efferent ducts. […] The pathogenesis of hydroceles is simply that there is an imbalance between fluid secretion and reabsorption in the closed sac between the tunica albuginea and the tunica vaginalis. There is also significant evidence that a defect in lymphatic drainage plays a role as well. […] Lymphatic obstruction probably has an important role in the pathogenesis of hydroceles.

• #1 Scrotal masses – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/scrotal-masses/symptoms-causes/syc-20352604

  Scrotal masses are lumps or swelling in the scrotum, the bag of skin that holds the testicles. […] Many health conditions can cause a scrotal mass or an unusual change in the scrotum. These include: […] Testicular cancer. This is cancer that starts in the testicles. It often causes a painless lump or swelling in the scrotum. But some people with testicular cancer don’t have any symptoms. See your doctor or other health care professional if you notice a new lump in your scrotum. […] Hydrocele. This is when extra fluid collects between the layers of a sac that surrounds each testicle. Most often, there’s a small amount of fluid in this space. But the excess fluid of a hydrocele can lead to a painless swelling of the scrotum. In adults, a hydrocele can happen because of an imbalance in the amounts of fluid made or absorbed. Often, this is due to an injury or infection in the scrotum.

• #1 Spermatocele: Practice Essentials, History of the Procedure, Problem

  https://emedicine.medscape.com/article/443432-overview

  Spermatoceles can occur at any age. The peak incidence is in men over age 65 years. […] The etiology of spermatoceles in humans remains undefined. Multiple etiologies have been proposed, although none is universally accepted. Some hypotheses include that spermatoceles may arise from efferent ductules, may be aneurysmal dilations of the epididymis, or may be dilation secondary to distal obstruction. In a mouse model of spontaneous spermatocele, distal efferent ducts were found to be occluded by agglutinated germ cells. […] The specific pathophysiology remains to be elucidated. Although distal obstruction has been theorized as a potential mechanism, the presence of motile sperm in up to 80% of spermatoceles suggests maintenance of proximal patency.

• #1 Scrotal masses – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/scrotal-masses/symptoms-causes/syc-20352604

  Varicocele. This happens when the veins inside the scrotum get bigger. Varicocele is more common on the left side of the scrotum due to differences in how blood flows from each side. A varicocele might cause infertility, which is when you can’t get your partner pregnant after a year of unprotected sex. […] Testicular torsion. This is a painful problem that cuts off blood to the testicle. It happens due to a twisting of the spermatic cord. That’s a bundle of blood vessels, nerves and the tube that carries semen from the testicle to the penis. Without prompt treatment, testicular torsion can lead to the loss of the testicle.

• #1 Scrotal Mass

  https://radiologyacrossborders.org/diagnostic_imaging_pathways/imaging-pathways/urological/scrotal-mass

  This pathway provides guidance on the imaging of adult male patients with a scrotal mass. […] Ultrasound is the preferred imaging modality to evaluate a scrotal mass. […] A painless solid testicular mass is pathognomonic for testicular tumour, though a proportion present with pain. […] A mass in the body of the testicle is likely malignant until proven otherwise and is an indication for urgent urology referral. […] Rarely varicocoele may be associated with a renal or retroperitoneal tumour compressing the venous drainage of the testis. […] Varicocoele is often a late sign of malignancy, so history and examination should be performed to identify other signs and symptoms of malignancy.

• #1 Testicular Masses | AAFP

  https://www.aafp.org/pubs/afp/issues/1998/0215/p685.html

  Mechanism. In cases of testicular torsion, an anatomic deformity allows the spermatic cord to twist, resulting in occlusion of testicular blood flow. This anomaly is known as the bell-clapper deformity, in which the tunica vaginalis completely surrounds the testis. The deformity leads to inadequate posterior fixation of the testis to the epididymis and scrotal wall. An autopsy series found the incidence of bell-clapper deformity to be 12 percent among asymptomatic men. The free-floating testis is more likely to twist on its cord and strangulate its blood supply through intra-vaginal torsion. Initiating factors for torsion can include trauma or vigorous exercise, but symptoms may also occur during sleep. Many patients will recall a previous history of minor similar pain that resolved spontaneously. Such a history favors the diagnosis of torsion.

• #1 Testicular torsion – Wikipedia

  https://en.wikipedia.org/wiki/Testicular_torsion

  Testicular torsion occurs when the spermatic cord (from which the testicle is suspended) twists, cutting off the blood supply to the testicle. […] Testicular tumor or prior trauma may increase risk. […] Other risk factors include a congenital malformation known as a „bell-clapper deformity” wherein the testis is inadequately attached to the scrotum allowing it to move more freely and thus potentially twist. […] Testicular torsion occurs when there is a mechanical twisting of the spermatic cord, which suspends the testicle within the scrotum and contains the testicular artery and vein. Twisting of the cord reduces or eliminates blood flow to the testicle. […] The degree of arterial and venous obstruction depends on the duration and severity of the torsion event. Typically, venous blood flow is compromised first.

• #1 Idiopathic Calcinosis Cutis of the Scrotum: A Case Report

  https://www.e-juo.org/journal/view.php?number=379

  Calcinosis cutis, calcification in soft tissue, is a rare benign disease that is separated into the following subtypes: dystrophic, iatrogenic, metastatic, calciphylaxis, and idiopathic. […] However, the pathogenesis of this nodule remains ambiguous and controversial. […] However, most of the etiology and pathophysiology remains unknown and controversial. […] One controversial point is the role of epidermal cysts, which were discussed by Swinehart and Golitz in 3 cases of scrotal calcinosis, and some were calcified with partial or total disruption of the epithelial walls, surrounding by inflammatory cells. […] This condition generally appears in adolescence or early adulthood with the normal metabolism in calcium and phosphate. […] The rate of recurrence is also controversial, and some authors insist on the frequent recurrence after primary excision. […] Therefore, the surgical approach should be perfect and the extent of excision must include the whole lesion to avoid recurrence.

• #1 Idiopathic scrotal calcinosis: report of 2 cases, and review of pathog | CCID

  https://www.dovepress.com/idiopathic-scrotal-calcinosis-report-of-2-cases-and-review-of-pathogen-peer-reviewed-fulltext-article-CCID

  From all these evidence, we opined that the ISC could be the end stage of a single disease that started from multiple etiologies. […] The impairment of quality of life, self-esteem, and fear of sexual dysfunction could determine acceptance of surgical treatment, in addition to the development of complications and for cosmetic reasons.

• #1 A rare case report on bilateral scrotal lipoma — the largest tumor in Vietnam | Nguyen | Oncology in Clinical Practice

  https://journals.viamedica.pl/oncology_in_clinical_practice/article/view/96055

  Scrotal lipoma is benign and still, one of the rarest cancers, with very few cases previously reported in the world. The exact pathogenesis of lipomas remains unknown. […] The exact pathogenesis of lipoma remains unknown. Nonetheless, trauma and cytogenetic mutations have been hypothesized as causes. […] Approximately, 55-75% of solitary lipomas have cytogenetic abnormalities involving HMGA2 gene rearrangements.

• #1 Primary scrotal lipoma in a pediatric patient: a case report with current literature review | African Journal of Urology | Full Text

  https://afju.springeropen.com/articles/10.1186/s12301-023-00391-1

  Primary scrotal lipomas are benign fatty tumors that develop from adipocytes of the scrotum. The exact cause of their development is unknown. […] Primary scrotal lipomas are benign lesions with an unclear pathogenesis. […] The cause of lipomas remains unclear but in younger patients, the cause is thought to be congenital. […] Primary scrotal lipomas are benign mesenchymal neoplasms that originate from adipose tissue in the scrotal wall. […] The majority of testicular tumors are malignant while tumors of the structures around the testes are mostly benign, including lipomas. […] Histopathological examination is essential for the definitive diagnosis of a scrotal lipoma and to accurately differentiate it from a liposarcoma.

• #1 Testicular Masses | AAFP

  https://www.aafp.org/pubs/afp/issues/1998/0215/p685.html

  Pathogenesis. Ninety-seven percent of testicular tumors are germinal in origin, with seminoma being the most common, followed by embryonal cell carcinoma, teratoma and choriocarcinoma. Testicular tumors spread via lymphatic drainage, which follows predictable and preferential pathways. Seminomas typically spread along the lymph system in a stepwise fashion. Some nonseminomatous germ cell tumors (NSGCT) can also spread hematogenously and present with pulmonary manifestations. Other tumors of nongerminal origin include Leydig’s cell tumors, Sertoli’s cell tumors and gonadoblastoma. Serum AFP is excreted to varying degrees by NSGCT but not by pure seminoma. An elevated AFP level implies NSGCT or mixed tumor. About one half of NSGCT and mixed tumors will secrete beta HCG, as will about 10 percent of pure seminomas. LDH is elevated in approximately 60 percent of patients with NSGCT. While it is not specific, LDH can be an indicator of tumor burden and can be used to follow patients with cancer of the testis. In any patient with suspected testicular cancer, AFP, beta HCG and LDH levels should be obtained before starting therapy. These markers can help with diagnosis and management. Significant levels of HCG or AFP should not be detectable in patients without cancer.

• #1 Gynecomastia: An Uncommon but Important Clinical Manifestation for Testicular Tumors

  https://file.scirp.org/Html/2%EF%BC%8D1940004_16951.htm

  Gynecomastia can be a sign for testicular tumors including sex-cord stromal tumors and germ cell tumors. […] The pathogenesis of gynecomastia is due to the loss of equilibrium between estrogen and androgen caused by a feminizing state. […] The pathogenesis of gynecomastia in Sertoli cell tumors is due to the increased ratio of estrogen to androgen by increasing the aromatization of estrogen precursors by the tumor cells. […] The pathogenesis of gynecomastia in testicular germ cell tumors is largely due to the increased level of human chorionic gonadotropin. hCG promotes steroidogenesis, leading to both increased secretion of estrogen and testosterone. The level of estrogen increase, however, is higher than testosterone, and, causes an increased ratio of estrogen and testosterone resulting in gynecomastia. […] The underlying mechanism is due to the loss of equilibrium between estrogen and androgen caused by a feminizing state, which includes the absolute increase of estrogen or its precursors, increase of the aromatization of estrogen precursors or increased secretion of hCG.

• #1 Testicular Cancer: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/279007-overview

  The cause of testicular cancer is not known. The characteristic genetic change found is an isochromosome of the short arm of chromosome 12 [i(12p)], which is often seen in sporadic cancers. This suggests that genes in this region are important in the development of germ cell tumors. A number of other genes that have a relatively weak effect are also involved in the development of testicular cancer. […] That genetic factors have a role in the development of testicular cancer is shown by the fact that the risk for the disease is higher in first-degree relatives of cancer patients than in the general population. About 2% of testicular cancer patients report having an affected relative. Siblings are at particularly increased risk, with a relative risk of 810. For sons of affected men, the relative risk is 46.

• #2 Testicular Masses | AAFP

  https://www.aafp.org/pubs/afp/issues/1998/0215/p685.html

  Pathogenesis. Ninety-seven percent of testicular tumors are germinal in origin, with seminoma being the most common, followed by embryonal cell carcinoma, teratoma and choriocarcinoma. Testicular tumors spread via lymphatic drainage, which follows predictable and preferential pathways. Seminomas typically spread along the lymph system in a stepwise fashion. Some nonseminomatous germ cell tumors (NSGCT) can also spread hematogenously and present with pulmonary manifestations. Other tumors of nongerminal origin include Leydig’s cell tumors, Sertoli’s cell tumors and gonadoblastoma. Serum AFP is excreted to varying degrees by NSGCT but not by pure seminoma. An elevated AFP level implies NSGCT or mixed tumor. About one half of NSGCT and mixed tumors will secrete beta HCG, as will about 10 percent of pure seminomas. LDH is elevated in approximately 60 percent of patients with NSGCT. While it is not specific, LDH can be an indicator of tumor burden and can be used to follow patients with cancer of the testis. In any patient with suspected testicular cancer, AFP, beta HCG and LDH levels should be obtained before starting therapy. These markers can help with diagnosis and management. Significant levels of HCG or AFP should not be detectable in patients without cancer.

• #2 Nonseminomatous Testicular Tumors | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/130655

  The risk factors for the development of testicular cancer are generally associated with testicular dysgenesis syndrome. […] Germ cell neoplasia in situ or GCNIS, formerly called intratubular germ cell neoplasia, is generally considered the primary premalignant precursor lesion for almost all testicular germ cell tumors (90%), except for spermatocytic seminomas, yolk sac tumors, and mature teratomas. […] The precise pathogenesis of GCNIS and testicular neoplasm is vaguely understood. […] The tumor pathogenesis of testicular germ cell tumors is only vaguely understood. […] It arises from a precursor lesion, germ cell neoplasia in situ (GCNIS), which develops from arrested spermatocytes that failed to differentiate.

• #2 Origins and molecular biology of testicular germ cell tumors | Modern Pathology

  https://www.nature.com/articles/3800309

  The characteristic genetic abnormality of these tumors is excess genetic material of the short arm of chromosome 12, usually in the form of an isochromosome; i(12p). […] The consistent gain of 12p genetic material is supported by gene array and comparative genomic hybridization data. […] The presence of i(12p) in IGCNU is a matter of controversy with most investigators suggesting it is not present. […] Data suggest that the consistent gain of genetic material from chromosome 12 is crucial for the development of an invasive GCT resulting in efforts to identify the specific genes involved. […] A significant number of these transcripts are located telomeric to the 12p11-12p12 region. […] While virtually all adult cases are aneuploid, pediatric cases are mostly diploid, particularly teratomas, although yolk sac tumors may be nondiploid.

• #2 Origins and molecular biology of testicular germ cell tumors | Modern Pathology

  https://www.nature.com/articles/3800309

  Testicular germ cell tumors can be divided into three groups (infantile/prepubertal, adolescent/young adult and spermatocytic seminoma), each with its own constellation of clinical histology, molecular and clinical features. […] Several factors have been associated with their pathogenesis, including cryptorchidism, elevated estrogens in utero and gonadal dysgenesis. […] The pathogenesis of prepubertal GCT and SS is poorly understood. […] The relative importance of susceptibility genes vs environmental factors in the etiology of TGCT is a source of great debate among investigators. […] Much stronger associations with the development of TGCT exist with factors such as exposure to high levels of maternal estrogen during pregnancy, neonatal jaundice and low and high birth weights. […] The most widely accepted risk factor for TGCT is cryptorchidism, approximately 10% of the cases having this association.

• #2 Testicular cancer – Wikipedia

  https://en.wikipedia.org/wiki/Testicular_cancer

  Most testicular germ cell tumors have too many chromosomes, and most often they are triploid to tetraploid. An isochromosome 12p (the short arm of chromosome 12 on both sides of the same centromere) is present in about 80% of testicular cancers, and also other cancers usually have extra material from this chromosome arm through other mechanisms of genomic amplification. […] A major risk factor for the development of testis cancer is cryptorchidism (undescended testicles). It is generally believed that the presence of a tumor contributes to cryptorchidism; when cryptorchidism occurs in conjunction with a tumor then the tumor tends to be large. Other risk factors include inguinal hernias, Klinefelter syndrome, and mumps orchitis. Physical activity is associated with decreased risk and sedentary lifestyle is associated with increased risk. Early onset of male characteristics is associated with increased risk. These may reflect endogenous or environmental hormones.

• #2 Scrotal masses – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/scrotal-masses/symptoms-causes/syc-20352604

  Scrotal masses are lumps or swelling in the scrotum, the bag of skin that holds the testicles. […] Many health conditions can cause a scrotal mass or an unusual change in the scrotum. These include: […] Testicular cancer. This is cancer that starts in the testicles. It often causes a painless lump or swelling in the scrotum. But some people with testicular cancer don’t have any symptoms. See your doctor or other health care professional if you notice a new lump in your scrotum. […] Hydrocele. This is when extra fluid collects between the layers of a sac that surrounds each testicle. Most often, there’s a small amount of fluid in this space. But the excess fluid of a hydrocele can lead to a painless swelling of the scrotum. In adults, a hydrocele can happen because of an imbalance in the amounts of fluid made or absorbed. Often, this is due to an injury or infection in the scrotum.

• #2 Hydrocele | Calgary Guide

  https://calgaryguide.ucalgary.ca/hydrocele-pathogenesis-and-clinical-findings/hydrocele/

  Hydrocele: Pathogenesis and clinical findings […] Accumulation of fluid within tunica vaginalis […] Increased scrotal fluid volume […] Increased volume stretches layers of the scrotum […] Scrotal swelling and heaviness […] Increased pressure on the testicular structures […] Accumulated fluid allows light to disperse through the scrotum […] Fluid motion can occur with external pressure on scrotum […] Positive fluctuation […] Compression/ irritation of nerves and pain sensitive structures […] Scrotal discomfort […] Longstanding compression of vascular supply, nutrients to testicles […] Positive pinch test (done to rule out hernia) […] Transillumination […] Testicular Atrophy.

• #2 Infections, tumors and lumps affecting the scrotal content – Clinical Advisor

  https://www.clinicaladvisor.com/features/infections-tumors-and-lumps-affecting-the-scrotal-content/

  Most scrotal-content lesions are benign, cystic and found in the paratesticular tissue. […] The cause of spermatocele development is unknown. One theory is that spermatoceles arise from trauma, infection, or some other inflammatory process. Another hypothesis is the epididymal ducts become obstructed, causing proximal dilation; obstruction is secondary to epithelium continually shedding immature germ cells that deposit in the efferent ducts. […] The pathogenesis of hydroceles is simply that there is an imbalance between fluid secretion and reabsorption in the closed sac between the tunica albuginea and the tunica vaginalis. There is also significant evidence that a defect in lymphatic drainage plays a role as well. […] Lymphatic obstruction probably has an important role in the pathogenesis of hydroceles.

• #2 Spermatocele: Practice Essentials, History of the Procedure, Problem

  https://emedicine.medscape.com/article/443432-overview

  Spermatoceles can occur at any age. The peak incidence is in men over age 65 years. […] The etiology of spermatoceles in humans remains undefined. Multiple etiologies have been proposed, although none is universally accepted. Some hypotheses include that spermatoceles may arise from efferent ductules, may be aneurysmal dilations of the epididymis, or may be dilation secondary to distal obstruction. In a mouse model of spontaneous spermatocele, distal efferent ducts were found to be occluded by agglutinated germ cells. […] The specific pathophysiology remains to be elucidated. Although distal obstruction has been theorized as a potential mechanism, the presence of motile sperm in up to 80% of spermatoceles suggests maintenance of proximal patency.

• #2 Testicular torsion – Wikipedia

  https://en.wikipedia.org/wiki/Testicular_torsion

  Testicular torsion occurs when the spermatic cord (from which the testicle is suspended) twists, cutting off the blood supply to the testicle. […] Testicular tumor or prior trauma may increase risk. […] Other risk factors include a congenital malformation known as a „bell-clapper deformity” wherein the testis is inadequately attached to the scrotum allowing it to move more freely and thus potentially twist. […] Testicular torsion occurs when there is a mechanical twisting of the spermatic cord, which suspends the testicle within the scrotum and contains the testicular artery and vein. Twisting of the cord reduces or eliminates blood flow to the testicle. […] The degree of arterial and venous obstruction depends on the duration and severity of the torsion event. Typically, venous blood flow is compromised first.

• #2 Testicular torsion – Wikipedia

  https://en.wikipedia.org/wiki/Testicular_torsion

  The increase in venous pressure subsequently causes decreased arterial blood flow, leading to decreased oxygen supply to the testicle, and if untreated, testicular infarction. […] It is also believed that torsion occurring during fetal development can lead to so-called neonatal torsion or vanishing testis, and is one of the causes of an infant being born with monorchism (one testicle).

• #3 Testicular Cancer: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/279007-overview

  The cause of testicular cancer is not known. The characteristic genetic change found is an isochromosome of the short arm of chromosome 12 [i(12p)], which is often seen in sporadic cancers. This suggests that genes in this region are important in the development of germ cell tumors. A number of other genes that have a relatively weak effect are also involved in the development of testicular cancer. […] That genetic factors have a role in the development of testicular cancer is shown by the fact that the risk for the disease is higher in first-degree relatives of cancer patients than in the general population. About 2% of testicular cancer patients report having an affected relative. Siblings are at particularly increased risk, with a relative risk of 810. For sons of affected men, the relative risk is 46.

• #3 Testicular Cancer: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/279007-overview

  Malignant transformation of germ cells is the result of a multistep process of genetic changes. One of the earliest events is the increased copy number of 12p, either as 1 or more copies of i(12p) or as tandem duplications of chromosome arm 12p. This abnormality is found in occult carcinoma in situ lesions as well as more advanced disease. Further studies indicate that CCND2 is present at chromosome band 12p13 and that CCND2 is overexpressed in most germ cell tumors, including carcinoma in situ. Amplification of CCND2 activates cdk4/6, allowing the cell to progress through the G1-S checkpoint.

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