Segmental testicular infarction secondary to protein C deficiency.

Protein C deficiency is a rare blood disorder that increases the risk of thromboembolism, resulting in deep vein thrombosis, pulmonary embolisms and strokes. Segmental testicular infarction is also a rare condition with unclear aetiology. This case presents a man in his 50s with protein C deficiency who developed a segmental testicular infarction. The patient was managed conservatively, without surgical intervention. He was monitored with serial ultrasound, which demonstrated progression from normal testis to segmental infarction and eventually resolution. The case highlights that protein C deficiency can cause testicular infarction, and a multidisciplinary approach can help avoid unnecessary surgery with excellent outcomes. Segmental infarction should be considered in patients with pre-existing thrombophilias after excluding malignancy and infection. Conservative management with repeat ultrasonography and follow-up can be appropriate in such cases.

Clinical and ultrasonographic findings associated with testicular infiltration in pediatric patients with leukemia.

BACKGROUND: Testicular infiltration is infrequent in pediatric patients with leukemia and can be confused with other testicular conditions. OBJECTIVE: To analyze the presence of clinical and radiological features suggestive of testicular disease and its histological association with leukemia infiltration. METHOD: Retrospective and analytical observational study that included patients with diagnosis of leukemia who underwent biopsy for suspected testicular infiltration. The relationship with the variables analyzed were diagnosis, reason for taking the biopsy, ultrasound findings, stage of treatment, induration, increased volume and pain, with testicular infiltration. RESULTS: Eighteen patients were included; 11 of them with microlithiasis, of which one 1 reported infiltration (odds ratio: 0.075; p = 0.026), no association was found between ultrasound findings and the presence of infiltration. Clinical findings were significantly associated with positive biopsies. CONCLUSIONS: No risk association was found with the ultrasound findings such as microlithiasis and hypoechoic imaging. The clinically evident testicular disease (testicular enlargement and testicular induration) has a significant statistic association with the presence of leukemia infiltration.

ANTECEDENTES: La infiltración testicular en pacientes pediátricos con leucemia es infrecuente y puede ser confundida con otros padecimientos testiculares. OBJETIVO: Analizar la presencia de características clínicas y radiológicas sugestivas de enfermedad testicular y su asociación histológica con infiltración por leucemia. MÉTODO: Estudio observacional retrospectivo y analítico que incluyó a los pacientes con diagnóstico de leucemia sometidos a biopsia por sospecha de infiltración testicular. Se analizó la relación con las variables diagnóstico de base, motivo de toma de biopsia, hallazgos ultrasonográficos, etapa del tratamiento, induración, aumento de volumen y dolor, con infiltración a testículo. RESULTADOS: Se incluyeron 18 pacientes; de ellos, 11 con microlitiasis, de los cuales solo uno reportado con infiltración (odds ratio: 0.075; p = 0.026). No se encontró una asociación entre los hallazgos ultrasonográficos y la presencia de infiltración. Los hallazgos clínicos se asociaron significativamente con biopsias positivas. CONCLUSIONES: No se encontró una asociación de riesgo con los hallazgos por ultrasonido, como microlitiasis e imágenes hipoecogénicas. La enfermedad testicular clínicamente evidente (incremento de volumen e induración testicular) tiene una asociación estadísticamente significativa con la presencia de infiltración por leucemia.

Testicular Pain - Not Always What it Seems: A Cross-Sectional Assessment of Patients Presenting for Chronic Scrotal Content Pain at a Tertiary Care Center.

OBJECTIVE: To review historical and examination findings in patients presenting to a tertiary care center for evaluation of Chronic Scrotal Content Pain (CSCP) defined by persistent/bothersome pain present for > 3-months. METHODS: We performed a retrospective chart review of all patients presenting to our medical center for evaluation of CSCP. Pertinent information collected included historical data, physical examination findings, laboratory and imaging results, and treatments recommended by the assessing physician. The data was summarized to present a cross-sectional representation of patients presenting for CSCP. RESULTS: 110 patients were identified. 80 patients (73%) had seen at least one prior urologist. 26 patients (24%) had undergone a prior unsuccessful surgical intervention for CSCP. Reproducible tenderness was present in 67% of patients including testicular tenderness in 50 (45%), epididymal tenderness in 60 (55%), and spermatic cord tenderness in 31 patients (28%). 33% of patients did not have any reproductible scrotal content tenderness on physical examination. Surgery was recommended in 57/110 patients (52%), including microdenervation in 22%. Musculoskeletal etiologies were suspected based on specific aspects of the history and physical examination in 43 patients (39%), prompting additional evaluation and/or referrals. CONCLUSION: CSCP presents with a wide array of symptoms and many patients do not have reproducible findings on examination, suggesting alternative sources of pain such as referred pain from musculoskeletal causes. The history and physical examination should include assessments for concurrent abdominal, back, hip, and other genital/pelvic pain that may suggest alternative diagnoses and referrals for appropriate treatment.

Is testicular microlithiasis associated with testicular pathologies in children?

PURPOSE: To analyze the association of testicular pathologies with TM. METHOD: The retrospective study included pediatric patients who underwent scrotal ultrasonography (US) due to complaints, including testicular pain, discomfort, swelling, scrotal redness in our clinic between June 2020 and January 2022. The patients were divided into two groups. Group 1; patients were diagnosed with testicular pathology or presented with testicular pain. Group 2; patients without testicular pathology or complaints. Patients were also classified as having undescended testis, epididymo-orchitis, varicocele and testicular pain without testicular pathology in group 1. Group 1 and subgroups of group 1 were compared with group 2 for the presence of TM. RESULTS: A total of 516 patients were included in the study. Median age at the time of US examination was 24 months (range 1 month-17 years). There was no significant difference between groups 1 and 2, and boys with undescended testis and group 2 with regard to the presence of TM (p = 0.85, p = 0.55, respectively). TM was significantly higher in patients who had undergone orchiopexy and presented with testicular pain compared to group 2 (p = 0. 013, p = 0.03, respectively). TM was not detected in patients with epididymo-orchitis, varicocele. CONCLUSION: We found no association between TM and testicular pathologies. Testicular pain may be a symptom of microlithiasis.

Microvascular Doppler Assisted Microsurgical Denervation of the Spermatic Cord in Treating Chronic Orchialgia.

Chronic orchialgia is a common disease in department of urology and andrology. The etiology is complex, and the treatment is difficult. In severe cases, orchiectomy is even necessary. In recent years, microsurgical denervation of the spermatic cord (MDSC) is a minimally invasive and effective surgical method for the treatment of chronic orchialgia. Its greatest advantage is to preserve the testis and epididymis, avoid the possible organ resection. The key of the operation is to dissect all the fibrous tissues in the spermatic cord, while protecting the arteries (especially the testicular arteries) and several lymphatic vessels. Combined with the use of microvascular doppler in the operation, when separating the structure of spermatic cord under the microscope, the testicular arteries can be objectively and accurately protected (pulse "whistle" sound can be heard when the microvascular doppler probes the arterial surface), while artery injury and venous missed ligation can be avoided. The postoperative blood supply of the testis is also maximumly safeguarded. At the same time, we can be more fearless to cut the cremaster muscle, fatty and connective tissues surrounding the spermatic cord blood vessels and vas deferens after the arteries and lymphatic vessels being accurately protected under the microscope, finally achieve the spermatic cord completely "skeletonized" (only the testicular arteries, lymphatic vessels and vas deferens remained after the surgery). Thus we can better ensure the clinical curative effect (denervation thoroughly), avoid serious complications (testicular atrophy), and achieve better surgical results.

A case report of acute testicular pain secondary to segmental testicular infarction.

BACKGROUND: Segmental testicular infarction is a rare condition that often occurs in the upper pole of the left testicle and usually presents with acute onset of scrotal pain. Contrast-enhanced ultrasound and MR are essential for diagnosing and differentiating segmental testicular infarction in clinical practice, and conservative treatment can only be adopted after a definitive diagnosis. In the present case, after conservative treatment, the infarct volume was reduced, the blood flow around the infarct was increased, and blood flow signals appeared in the infarct. We performed a correlation analysis to investigate the causes of these changes. CASE PRESENTATION: A 33-year-old male, without any specific disease history, was admitted to the hospital with a 5-day history of left testicular pain, and the imaging showed focal necrosis of the left testicle with hemorrhage. He was diagnosed with segmental testicular infarction after differentiating and excluding it from malignant tumors. Conservative medical treatment was given, and the symptoms of testicular pain were relieved after treatment. After discharge, regular reexamination at follow-ups showed that the infarct's size was reduced, the blood flow around the infarct was increased, and blood flow signals appeared in the infarct. CONCLUSION: Conservative treatment has become the standard treatment currently adopted after confirming the diagnosis of segmental testicular infarction through contrast-enhanced ultrasound and MR. The blood flow changes in and around the focus of testicular infarction can be related to various factors. At present, relevant conclusions of the underlying mechanisms were mainly deduced from infarction studies of other related organs such as the heart and brain; thus, the specific pathological mechanism needs further experimental verification.

IDIOPHATIC ASYNCHRONOUS BILATERAL SEGMENTAL TESTICULAR INFARCTION AND ANTICOAGULANT THERAPY: A CASE REPORT.

We present an unusual case of sudden onset of pain in the left testis in a patient with a previous medical history of right orchiectomy due to hemorrhagic infarction. A partial orchiectomy was performed with complete removal of the lesion and reconstruction of the testicular parenchyma. Histopathological assessment confirmed segmental testicular infarction without the presence of malignancy. The patient subsequently received anticoagulant therapy.

A case of abdominal migration of the testes presenting with azoospermia.

31-year-old male was referred to our hospital due to azoospermia. Physical examination revealed impalpable testes in the scrotum, and operative scar presented at lower abdominal midline. Magnetic resonance imaging (MRI) revealed that small testes were located subcutaneously in the lower abdominal midline. Since luteinizing hormone (LH) and follicle stimulating hormone (FSH) were elevated, we diagnosed non-obstructive azoospermia (NOA) due to abdominal migration of the testes. Microscopic testicular sperm extraction (micro-TESE) was performed, however, no sperm were recovered. Pathological diagnosis was Sertoli cell only and no malignant cells were observed. Post-operatively, subjects' hormone levels were unchanged, and testicular tumor markers and computed tomography (CT) were normal. However, renal function gradually deteriorated and a renal transplantation from the farther was carried out eight months after micro-TESE. Attention to the possibility of carcinogenesis of the abdominal migrated testes should be maintained.

Clinical and seminal parameters associated with testicular microlithiasis and its severity in males from infertile couples.

STUDY QUESTION: Is there an association of testicular microlithiasis (TM) and its severity with testicular dysfunction in men from infertile couples? SUMMARY ANSWER: The presence of ≥5 testis microcalcifications per sonogram at the scrotal ultrasonography (US) of infertile males was associated with a more severe testicular dysfunction as compared to males with limited, or without, TM. WHAT IS KNOWN ALREADY: TM, representing an incidental finding in the scrotal US, is associated with male infertility and a higher risk for testicular cancer as compared to that in infertile males without TM. Still, there are unresolved questions on the relation between TM severity and testicular dysfunction in infertile men, as well as on the identification of risk factors for TM. STUDY DESIGN, SIZE, DURATION: This study was an observational, retrospective, case-control investigation involving males who underwent clinical evaluation, measurement of reproductive hormones, seminal analysis and scrotal US as part of diagnostic work-up for couple infertility at an andrology clinic, between January 2004 and December 2018. One hundred patients, out of the 2112 scored men, were found to have TM during the US evaluation. One hundred male partners from 100 infertile couples without TM, comprising the control group, were selected through a matched analysis by age and date of evaluation to reduce the confounding effect of both age and technique variability all along the long period of observation. PARTICIPANTS/MATERIALS, SETTING, METHODS: TM was defined as limited TM (LTM) or classical TM (CTM), when the maximum number of hyperecogenic spots per sonogram was <5 or ≥5, respectively. CTM, LTM and control groups were compared for clinical variables, serum levels of FSH, LH, and total testosterone, as well for semen parameters and scrotal US features. MAIN RESULTS AND THE ROLE OF CHANCE: After the exclusion of cases with testicular nodules to eliminate the possible confounding effect of testis cancer on testicular dysfunction, cases with CTM showed a lower mean testis volume (P = 0.03) and a lower sperm concentration (P = 0.03) as compared to the other two groups. A higher FSH level was observed in the CTM group compared to the LTM group (P = 0.02) and in controls (P = 0.009). The multiple logistic regression analysis showed that only a smaller testicle volume exhibited an independent significant association with a higher odds of detecting CTM (odds ratio = 0.84, 95% CI: 0.75-0.94; P = 0.02). No significant differences were observed between groups in the prevalence of risk factors for testicular cancer, or in the prevalence of conditions associated with TM. LIMITATIONS, REASONS FOR CAUTION: The retrospective design of the study did not allow conclusions to be drawn about the possible underlying links in the associations of TM with defective spermatogenesis. WIDER IMPLICATIONS OF THE FINDINGS: Males from infertile couples who exhibit a reduced testicular volume should undergo scrotal US, independent of sperm parameters, to exclude CTM and, eventually, testis cancer, although the association of CTM and current or future testis cancer risk is not yet clear. Evidence is provided here demonstrating that the presence of LTM has no clinical relevance in males from infertile couples. STUDY FUNDING/COMPETING INTEREST(S): Investigation was funded by Ministero dell'Università e della Ricerca, PRIN 2018, Italy. The authors have not declared any competing interests. TRIAL REGISTRATION NUMBER: N/A.

Male infertility due to testicular disorders.

CONTEXT: Male infertility is defined as the inability to conceive following 1 year of regular unprotected intercourse. It is the causative factor in 50% of couples and a leading indication for assisted reproductive techniques (ART). Testicular failure is the most common cause of male infertility, yet the least studied to date. EVIDENCE ACQUISITION: The review is an evidence-based summary of male infertility due to testicular failure with a focus on etiology, clinical assessment, and current management approaches. PubMed-searched articles and relevant clinical guidelines were reviewed in detail. EVIDENCE SYNTHESIS/RESULTS: Spermatogenesis is under multiple levels of regulation and novel molecular diagnostic tests of sperm function (reactive oxidative species and DNA fragmentation) have since been developed, and albeit currently remain as research tools. Several genetic, environmental, and lifestyle factors provoking testicular failure have been elucidated during the last decade; nevertheless, 40% of cases are idiopathic, with novel monogenic genes linked in the etiopathogenesis. Microsurgical testicular sperm extraction (micro-TESE) and hormonal stimulation with gonadotropins, selective estrogen receptor modulators, and aromatase inhibitors are recently developed therapeutic approaches for men with the most severe form of testicular failure, nonobstructive azoospermia. However, high-quality clinical trials data is currently lacking. CONCLUSIONS: Male infertility due to testicular failure has traditionally been viewed as unmodifiable. In the absence of effective pharmacological therapies, delivery of lifestyle advice is a potentially important treatment option. Future research efforts are needed to determine unidentified factors causative in "idiopathic" male infertility and long-term follow-up studies of babies conceived through ART.

Surgical findings in cryptorchidism in children with Zika-related microcephaly: a case series.

BACKGROUND: Complications in the urinary tract related to congenital Zika syndrome have recently been reported. One complication, cryptorchidism, has been reported by the Microcephaly Epidemic Research Group/MERG, in Pernambuco/Brazil. The present article describes for the first time the surgical findings in a case series of boys with Zika-related microcephaly and cryptorchidism, who underwent surgical testicular exploration as a contribution to better understand the possible mechanisms involved in gonads formation and descent. METHODS: A total of 7 children (11 testicular units), aged 3 to 4 years, were submitted to inguinal or scrotal orchidopexy for the treatment of palpable cryptorchidism between August 2019 and January 2020. Characteristics of the gonads and its annexes related to appendixes, testis-epididymis dissociation, gubernacular insertion, and associated hydroceles and/or hernias were described. Measures in centimetres were taken for volume calculate. RESULTS: We found a low prevalence of testicular and epididymal appendix (66.7%), a high prevalence of testis-epididymis dissociation (55.6%), low mean testicular volume for their ages (lower for older boys) and ectopic gubernacular insertion in all cases. There was no evidence of associated hydroceles and/or hernias in any case. No surgical complication was registered or reported, and all explored gonads were properly placed in the scrotal sac. CONCLUSIONS: We herein describe the surgical findings of these children's orchidopexies and discuss the possible mechanisms of viral action in embryogenesis and postnatal growth and development of the testes and annexes. These children need to be followed over time due to the higher risk of testicular atrophy and malignancy. Surgical timing seems to be relevant to avoid loss of testicular volume.

Is testicular microlithiasis a really innocent condition? Its effects on oncological outcomes of germ cell testicular cancer: An observational study. / ¿Son las microlitiasis testicular realmente un síntoma sin transcendencia? Sus efectos en los resultados oncológicos en el cáncer de testículo: estudio observacional.

OBJECTIVES: Although it is a well known condition that presence of testicular microlithiasis (TM) with the co-occurrence of specific risk factors such as historyof previous germ cell testicular cancer (GCTC), infertility, undescended testes or atrophic testes have high risks for GCTC development, TM is still a controversial topic. Its effects on oncological outcomes have still not been investigated in detail. In this study, we aimed to evaluate whether the presence of TM has an effect on GCTC prognosis and oncological outcomes. METHODS: Seventy five patients among 93 patients who underwent radical orchidectomy between January 2010 and February 2016 were selected and divided into two groups. Group I consisted of 51 patients without TM. Group II consisted of 24 patients with TM. Each groups were compared in terms of demographic datas, prognostic risk factors, complete blood count parameters and oncological outcomes. RESULTS: During the median follow-up of 58 (1-106) months, a significantly higher local recurrence rate (54.2% vs. 3.9%, p<0.001) distant metastasis rate (58.3% vs. 5.9%, p<0.001) and lower cancer-specific survival rate (45.8% vs. 94.1%, p<0.001) were observed in patients with TM. In this group, the duration of recurrence-free survival (47.65±9.45 vs.101.96±2.80 months, p<0.001), metstais-free survival (49.50±8.88 vs. 100.00±3.36 months, p<0.001) and cancer-specific survival (54.37±8.76  vs. 100.19±3.25 months, p<0.001) were also statisticaly lower. In multivariate analysis, ß-hCG, LDH, neutrophil/lymphocyte ratio, monocyte/lymphocyte ratio and the presence of undescended testis were found as independent predictive factors for local recurrence, distant metastasis and cancer-specific survival. Red blood cell distribution width and the presence of testicular microlithiasis were found to be independent predictive factors for local recurrence. CONCLUSION: According to our results, bilateral TM was associated with higher rates of local recurrence, distant metastasis and cancer spesific mortality in presenceof risk factors, regardless of classic or limited microlithiasis.

OBJETIVO: Aunque es bien conocida la presencia de microlitiasis testiculares con el desarrollo de cáncer testicular, la infertilidad, teste no descendido o atrofia testicular, aun es un tema controvertido. Los efectos en los resultados oncológicos no han sido estudiados en detalle. En este estudio, nuestro objetivo ha sido evaluar la presencia de microlitiasis en los resultados oncológicos del cáncer de testículo.MÉTODOS: Un total de 75 pacientes fueron incluidosen el análisis de un total de 93 pacientes que recibieron una orquiectomía radical entre enero 2010 y febrero 2016. Los pacientes se dividieron en 2 grupos: I- consta de 51 pacientes sin microlitiasis, II consta de 24 pacientes con microlitiasis. Ambos grupos fueron comparados en términos de variables demográficas, factores de riesgo, analítica sanguínea y resultados oncológicos. RESULTADOS: La mediana de seguimiento fue de 59 meses (1-106). Se observó un incremento significativo de la recurrencia local (54,2% vs. 3,9%, p<0,001), metástasis a distancia (58,3% vs. 5,9%, p<0,001) y bajada de la supervivencia cáncer especifica (45,8% vs. 94,1%, p<0,001) en pacientes con microlitiasis. En este grupo, la duración de la superviviencia libre de recurrencia (47,65±9,45 vs.101,96±2,80 meses,p<0,001), supervivencia libre de metástasis (49,50±8,88 vs. 100,00±3,36 meses, p<0,001) y supervivencia cáncer especifica (54,37±8,76 vs.100,19±3,25 meses, p <0,001) fueron también menores. Al estudio multivariado, ß-hCG, LDH, neutrophil/lymphocyte ratio, monocyte/lymphocyte y la presencia de testes no descendido fueron factores independientes predictores de recurrencia local, metástasis a distancia y supervivencia cáncer-especifica. La distribución de los hematíes y la presencia de microlitiasis fueron factores independientes de recurrencia local. CONCLUSIONES: Las microlitiasis bilaterales se asocian a mayor tasa de recurrencia local, metástasis a distancia y supervivencia cáncer especifica, independientemente de su tamaño.

Testicular function and sexuality in adult patients with anorectal malformation.

PURPOSE: To collect data on sexual and fertility issues in adult male patients with history of anorectal malformations (ARM). MATERIALS AND METHODS: Thirty adult males born with ARM, cared for at the Pediatric Surgery of Treviso and Padua Hospitals, were enrolled and interviewed about sexual habits and relationships. Testicular ultrasound, evaluation of male sex hormones and semen analysis were performed to assess testicular function and compare data with 15 fertile controls. Presence of erectile dysfunction was evaluated with IIEF-5 questionnaire. RESULTS: Cryptorchidism and recurrent orchiepididymitis were reported in 33% and 40% of patients, respectively. Average testicular volume resulted significantly lower than fertile controls (11.1 vs 14.3 mL, p = 0.002) and 53.5% presented testicular hypotrophy (<10 mL). Erectile dysfunction was reported by a single patient and ejaculatory anomalies by 46.5%. Thirteen patients were azoospermic/cryptozoospermic; 6 of them presented a reduced peripheral sensitivity to androgens (ASI > 139). Coital debut resulted delayed at 18 years old (vs 15 years in the control group). Overall 63.5% reported their condition did not affect their sexual sphere. CONCLUSIONS: Evaluation of testicular function is recommended in ARM patients to detect and treat possible infertility disorders, to recognize the clinical conditions which could affect the spermatogenesis since childhood, and to guarantee psychological support. LEVEL OF EVIDENCE RATING: Prognosis study. Level III (case-control study).

Pituitary Dysfunction Among Men Presenting with Hypogonadism.

PURPOSE OF REVIEW: Hypogonadism is a common endocrine dysfunction. This review focuses on the most up-to-date guideline for evaluation of pituitary function among men presenting with signs and symptoms of hypogonadism. RECENT FINDINGS: The clinician must differentiate between primary (testicular) and secondary (pituitary-hypothalamic or central) hypogonadisms and be aware of adult-onset hypogonadism. If gonadotropins are low or inappropriately normal, the clinician must consider potential reversible causes in the hypothalamus-pituitary axis. Also, it is critical to understand the pitfalls of testosterone testing. When clinically indicated, evaluation of other pituitary hormone functions as well as pituitary magnetic resonance imaging may be necessary. Furthermore, it is essential to recognize that pituitary incidentalomas are common. Patients with microprolactinoma are more likely to present with symptoms of sexual dysfunction while those with macroprolactinoma are more likely to present with symptoms of mass effect. Some functional pituitary tumors respond to drug therapy while other nonfunctional tumors require surgical intervention. It is important for the clinician to understand the proper work-up of the hypogonadal patient with pituitary dysfunction and when necessary to refer to an endocrinologist or a neurosurgeon.

The split sign: The MRI equivalent of the bell clapper deformity.

METHODS:: The cases of eight patients who underwent MRI and surgery for acute scrotum between January 2010 and January 2017 were evaluated. We recorded whether hyperintense fluid on T2 weighted images existed between the posterior aspect of the epididymis and the scrotal wall ("split sign") and investigated if it correlated with BCD in surgical findings. RESULTS:: In one patient without hydrocele, readers were unable to evaluate the anatomy of the tunica vaginalis. Among seven patients with hydrocele, five had the split sign and all were surgically confirmed as BCD. In two patients with hydrocele but no split sign, one had normal scrotal anatomy and the other had a BCD with a necrotic testis adherent to the scrotal wall. CONCLUSION:: The split sign on MRI corresponded well to the lack of fixation of the epididymis to the scrotal wall and detected BCD with high sensitivity (5/6). ADVANCES IN KNOWLEDGE:: A hyperintense area on T2 weighted image between the posterior aspect of the epididymis and scrotal wall ("split sign") is a useful MRI finding for diagnosing BCD.

A synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter`s syndrome.

Özyörük D, Kocayozgat A, Yaman-Bajin I, Çetindag F, Oguz- Erdogan AS, Günes A. A synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter`s syndrome. Turk J Pediatr 2019; 61: 456-459. Klinefelter syndrome (KS) is characterized by an additional X chromosome in males leading to a karyotype of 47,XXY. It is associated with an increased risk of certain malignancies, including leukemia, breast cancer and extragonadal germ cell tumor such as mediastinal germ cell tumors and rarely intracranial germ cell tumors. It is possible that the increased risk of developing certain cancers can be attributed to a direct effect of the chromosomal abnormality or the combined action of the abnormal chromosomes and hormonal imbalances. Here we describe a synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter`s syndrome. The synchronous occurrence of the dual tumors in this patient with Klinefelter`s syndrome might be resulted from the migration defect during embriyogenesis due to underlying genetic disease or it is a coincidental condition, yet there has been no case reported in the literature, so far.

[Testicular Microlithiasis: Update on diagnosis and management.] / Actualidades sobre microlitiasis testicular.

Testicular microlithiasis (TM) is an uncommonurologic condition incidentally diagnosed byscrotal ultrasound. It has been associated with differentdiseases, such as Klinefelter`s syndrome, testicular atrophy,cryptorchidism, testicular torsion, and infertility.However, it can also present in healthy males that haveno associated risk factors. Currently, TM is most oftendetected thanks to the superior resolution of today's ultrasoundequipment, compared with former models. In the1990s, TM was considered a benign condition with noimportant clinical relevance, but later reports associatedit with the development of testicular neoplasias andinfertility. Thus, many authors recommended periodic surveillance with tumor markers and ultrasound imaging,with some even promoting the use of testicular biopsy.The aim of this article is to clearly and specifically presentcurrent information about testicular microlithiasis, toestablish both diagnostic and follow-up indications.

La microlitiasis testicular (MT) es un padecimiento urológico poco frecuente que se diagnostica de forma incidental mediante ltrasonografía escrotal. Ha sido asociado a diversas enfermedades como síndrome de Klinefelter, atrofia testicular, criptorquidia, torsión testicular e infertilidad. Sin embargo, también se puede encontrar en varones sanos sin factores de riesgo asociados. La microlitiasis testicular es detectada con mayor frecuencia en la actualidad, debido a la resolución superior de los equipos de ultrasonido actuales en comparación a los anteriores.  En la década de los  noventa la MT fue considerada una condición benigna sin gran relevancia clínica. Sin embargo, reportes posteriores asociaron este padecimiento al desarrollo de neoplasias testiculares e infertilidad. Por tal motivo muchos autores recomendaban la vigilancia periódica con marcadores tumorales y ultrasonido, e incluso algunos preconizaban el uso de la biopsia testicular. El objetivo del presente articulo de revisión es exponer de manera clara y especifica la evidencia actual de la microlitiasis testicular para así establecer las pautas tanto diagnósticas como de seguimiento.

Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis.

Testicular microlithiasis (TM) is one of the symptoms of testicular dysgenesis syndrome (TDS). TM is particularly interesting as an informative marker of testicular germ cell tumors (TGCTs). KIT ligand gene (KITLG), BCL2 antagonist/killer 1 (BAK1), and sprouty RTK signaling antagonist 4 (SPRY4) genes are associated with a high risk of TGCTs, whereas bone morphogenetic protein 7 gene (BMP7), transforming growth factor beta receptor 3 gene (TGFBR3), and homeobox D cluster genes (HOXD) are related to TDS. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated allele and genotype frequencies for KITLG (rs995030, rs1508595), SPRY4 (rs4624820, rs6897876), BAK1 (rs210138), BMP7 (rs388286), TGFBR3 (rs12082710), and HOXD (rs17198432) in 142 TGCT patients, 137 TM patients, and 153 fertile men (control group). We found significant differences in the KITLG GG_rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. We also revealed strong associations between KITLG_rs1508595 and TM (G allele, P = 0.003; GG genotype, P = 0.01) and between KITLG_rs1508595 and TGCTs (G allele, P = 0.0001; GG genotype, P = 0.0007). Moreover, there was a significant difference in BMP7_rs388286 between the TGCT group and the control (T allele, P = 0.00004; TT genotype, P = 0.00006) and between the TM group and the control (T allele, P = 0.04). HOXD also demonstrated a strong association with TGCTs (rs17198432 A allele, P = 0.0001; AA genotype, P = 0.001). Furthermore, significant differences were found between the TGCT group and the control in the BAK1_rs210138 G allele (P = 0.03) and the GG genotype (P = 0.01). KITLG and BMP7 genes, associated with the development of TGCTs, may also be related to TM. In summary, the KITLG GG_rs995030, GG_rs1508595, BMP7 TT_rs388286, HOXD AA_rs17198432, and BAK1 GG_rs210138 genotypes were associated with a high risk of TGCT development.