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Keywords = testicular ultrasound

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14 pages, 4090 KiB  
Article
Development and Validation of an Ultrasound Imaging Algorithm for Structured Reporting in Testicular Pathology
by Roxana Pintican, Alexandru Negrea, Isabell Boll, Bianca Boca, Diana Gherman, Marilena Bora, Sorin Dudea and Anca Ciurea
Diagnostics 2025, 15(8), 951; https://doi.org/10.3390/diagnostics15080951 - 9 Apr 2025
Viewed by 403
Abstract
Background/Objectives: Testicular ultrasound (US) imaging is a critical modality for diagnosing a variety of testicular pathologies, including malignancies. This study aimed to develop and validate a standardized diagnostic algorithm to enhance diagnostic accuracy and consistency in evaluating testicular lesions, particularly for distinguishing [...] Read more.
Background/Objectives: Testicular ultrasound (US) imaging is a critical modality for diagnosing a variety of testicular pathologies, including malignancies. This study aimed to develop and validate a standardized diagnostic algorithm to enhance diagnostic accuracy and consistency in evaluating testicular lesions, particularly for distinguishing between benign and malignant conditions. Methods: The algorithm was applied retrospectively to 110 testicular imaging cases, including 90 abnormal and 20 normal cases, analyzed by three radiologists with varying experience levels. Key diagnostic features, including lesion morphology, vascularity, and echotexture, were evaluated to guide the differentiation process. Results: demonstrated high diagnostic accuracy, with sensitivity reaching 100% for detecting abnormal cases and specificity ranging between 80% and 95%. In distinguishing benign from malignant lesions, the algorithm achieved an area under the curve (AUC) of up to 0.917, with specificities exceeding 93%. Notably, strong inter-rater agreement was observed, underscoring the algorithm’s reliability across different expertise levels. While the algorithm significantly improved standardization and diagnostic performance, some variability in sensitivity for less experienced evaluators highlights the need for further refinement. Conclusions: This study shows that the proposed diagnostic algorithm is an effective tool for testicular US, facilitating accurate and reproducible assessments, which are crucial for early detection and optimal management of testicular pathologies. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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13 pages, 2969 KiB  
Article
Comparison Between Strain and 2D Shear Wave Elastography of Testes in Healthy Dogs
by Francesca Del Signore, Roberta Bucci, Massimo Vignoli, Marco Russo, Camilla Smoglica, Andrea De Bonis, Andrea Rubini, Martina Rosto, Augusto Carluccio, Domenico Robbe and Salvatore Parrillo
Animals 2025, 15(4), 498; https://doi.org/10.3390/ani15040498 - 10 Feb 2025
Viewed by 457
Abstract
Sonoelastography is a rapid and non-invasive ultrasound-based technique to assess tissue elasticity. Interest in this technique’s application in veterinary medicine is progressively increasing, with preliminary reports also available to assess canine testicular parenchyma abnormalities. Since elastographic techniques are different and it is of [...] Read more.
Sonoelastography is a rapid and non-invasive ultrasound-based technique to assess tissue elasticity. Interest in this technique’s application in veterinary medicine is progressively increasing, with preliminary reports also available to assess canine testicular parenchyma abnormalities. Since elastographic techniques are different and it is of paramount importance to standardize procedures, this work aimed to compare two different elastographic techniques, SE and 2D SWE, on the same testes and compare the data with the current literature. Thirty healthy canine testes were included, and complete B-mode, color and power Doppler examinations were performed on each one. SE was performed qualitatively through an elastogram evaluation and semiquantitatively comparing the parenchyma with peripheral skin. 2D SWE was performed and m/s measurements were taken. Each measurement was collected in the cranial, middle and caudal portions, considering the sections above and below the mediastinum separately. The healthy testes appeared to be intermediate in stiffness with differences in the various portions for SE and expressed a mean value from 1.3 m/s to 1.4 m/s for 2D SWE, consistent with the previous literature. Considering the technical specifics of the software for the two elastography methods, both of them are valuable in assessing canine testis stiffness and are potentially clinically appliable. Full article
(This article belongs to the Special Issue Imaging Techniques and Radiation Therapy in Veterinary Medicine)
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9 pages, 222 KiB  
Article
Laparoscopic Inguinal Hernioplasty with a Polyether Ether Ketone Anchoring Device in Intact Male Horses Does Not Compromise Testicular Perfusion, Sperm Production or Motility Characteristics
by Arantza Vitoria, Laura Barrachina, Antonio Romero, Sara Fuente, Ignacio de Blas, Lydia Gil and Francisco José Vázquez
Animals 2025, 15(3), 402; https://doi.org/10.3390/ani15030402 - 31 Jan 2025
Viewed by 621
Abstract
A new surgical technique using a polyether ether ketone (PEEK) anchoring device for testicle-sparing laparoscopic inguinal hernioplasty in stallions was described in 2023 and is known as the PEEK harpoon technique (PHT). In breeding stallions, it is essential that the surgery is effective [...] Read more.
A new surgical technique using a polyether ether ketone (PEEK) anchoring device for testicle-sparing laparoscopic inguinal hernioplasty in stallions was described in 2023 and is known as the PEEK harpoon technique (PHT). In breeding stallions, it is essential that the surgery is effective in preventing inguinal hernia but also that it does not impair the testicular function. This study aims to evaluate whether the PHT may affect testicular function. To achieve that, changes in the testicular blood flow, sperm production and motility characteristics were assessed 28 days after use of the PHT. Standing laparoscopic hernioplasty using the PHT was performed unilaterally in eight healthy (non-previously herniated) experimental intact males. The contralateral inguinal canals and testicles were used as control. Pre- and post-surgery Doppler ultrasonographic evaluations of testicular perfusion were performed serially. Bilateral castration was performed at 28 days post-surgery, and epididymal sperm were obtained from both testicles to analyze seminal characteristics. No significant differences were identified in regard to testicular perfusion and the sperm characteristics of the control and operated testicles, suggesting that the PHT-based hernioplasty would not compromise testicular function. Further studies evaluating effects over a longer period are needed, but our data indicate that the PHT is suitable for testicle-sparing inguinal laparoscopic hernioplasties in breeding stallions with a history or predisposing factors of inguinal herniation. Full article
(This article belongs to the Special Issue Equine Veterinary Surgery)
11 pages, 2215 KiB  
Article
An Insight into Testicular Macrocalcification—A Retrospective Study of 42 Cases on a Rare Sonographic Finding
by Malene Roland Vils Pedersen, Ditte Marie Toft, Jan Lindebjerg, Søren Rafael Rafaelsen and Søren Kissow Lildal
Life 2025, 15(2), 205; https://doi.org/10.3390/life15020205 - 30 Jan 2025
Viewed by 1260
Abstract
A single testicular microlithiasis is a common finding during sonography, while macrocalcification is a rare and incidental finding. The literature on macrocalcification is limited. Typically, testicular calcifications, whether microscopic or macroscopic, are benign but they can have a clinical significance. This multicenter study [...] Read more.
A single testicular microlithiasis is a common finding during sonography, while macrocalcification is a rare and incidental finding. The literature on macrocalcification is limited. Typically, testicular calcifications, whether microscopic or macroscopic, are benign but they can have a clinical significance. This multicenter study aimed to investigate the symptoms and prevalence of testicular cancer in patients with macrocalcification. Methods: Testicular ultrasound examination reports from four hospitals’ PACS database, covering the period 2014–2023, were screened for diagnoses of macrocalcification. Inclusion criteria required that the radiology report described macrocalcification supported by ultrasound images. Results: Macrocalcifications were identified in 42 male patients, with a mean age of 45 years. Sixteen macrocalcifications were in the right testicle, twenty in the left, and six were bilateral. Microlithiasis were found in 22 patients (52.4%), with 11 (26.2%) bilateral, 3 (7.1%) left-sided, and 8 (19.1%) right-sided. Testicular tumors were found in six patients. Conclusion: Testicular macrocalcification exhibited large visual variation and diverse clinical history. However, we found a low number of patients with testicular macrocalcification and testicular tumors, indicating that macrocalcifications have a benign nature, and that macrocalcification alone should not be a primary concern for malignancy, but this needs to be confirmed in further studies. Full article
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20 pages, 3218 KiB  
Article
Shear Wave Elastography Evaluation of Testicular Stiffness in Dogs Affected by Testicular Pathology
by Tiziana Caspanello, Viola Zappone, Riccardo Orlandi, Monica Sforna, Cristano Boiti, Letizia Sinagra, Giulia Donato, Massimo De Majo, Nicola Maria Iannelli and Alessandro Troisi
Animals 2025, 15(3), 353; https://doi.org/10.3390/ani15030353 - 26 Jan 2025
Viewed by 709
Abstract
Shear wave elastography (SWE) is an advanced ultrasound technique that assesses tissue stiffness by measuring shear wave speed (SWS) produced after an acoustic impulse. It includes bidimensional (2D-SWE) and focal point (pSWE) methods, allowing qualitative and quantitative analysis of tissue stiffness. This study [...] Read more.
Shear wave elastography (SWE) is an advanced ultrasound technique that assesses tissue stiffness by measuring shear wave speed (SWS) produced after an acoustic impulse. It includes bidimensional (2D-SWE) and focal point (pSWE) methods, allowing qualitative and quantitative analysis of tissue stiffness. This study aimed to describe the elastographic features of testicular abnormalities in dogs, supported by histological findings. Eighteen dogs with testicular abnormalities underwent B-mode ultrasound, power and color Doppler ultrasound, 2D-SWE, and pSWE before orchiectomy. Five cryptorchid testes were excluded and thirty-one testes (12 normal, 7 with leydigomas, 6 with seminomas, 1 with a round cell tumor, and 5 with orchitis) were examined. Normal testes, lesions, and adjacent healthy tissues (no evident ultrasound changes, NEUC) were sampled. Testicular abnormalities presented SWS values of 1.05–4.89 m/s (2D-SWE) and 1.35–5.31 m/s (pSWE). Significant differences were observed among normal testes, NEUC areas, and those with orchitis, leydigomas, and seminomas by both 2D-SWE and pSWE. Normal testes were significantly softer than ones with leydigomas, seminomas, and orchitis, and NEUC areas also had different SWS values compared to those with tumors and orchitis (p < 0.05). However, SWE techniques lacked specificity in differentiating between orchitis and tumors. Diagnostic accuracy of SWE techniques for testicular lesions remains challenging and requires further investigation to fully address its clinical potential. Full article
(This article belongs to the Section Veterinary Clinical Studies)
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9 pages, 7687 KiB  
Article
Can Multiparametric Ultrasound Analysis Predict Malignancy in Testes? An 11-Year Single Center Experience with Testicular Masses
by Yannic Volz, Isabel K. Brinkmann, Dirk-André Clevert, Nikolaos Pyrgidis, Patrick Keller, Philipp Weinhold, Friedrich Jokisch, Marc Kidess, Michael Chaloupka, Christian G. Stief and Julian Marcon
J. Clin. Med. 2024, 13(24), 7853; https://doi.org/10.3390/jcm13247853 - 23 Dec 2024
Viewed by 797
Abstract
Introduction/Objective: Contrast-enhanced ultrasound (CEUS) is a promising modality for differentiating benign and malignant lesions in various organs, including the testis. Testicular tumors, common in young men, are often treated with radical orchiectomy, which can have significant consequences. This study aimed to analyze CEUS [...] Read more.
Introduction/Objective: Contrast-enhanced ultrasound (CEUS) is a promising modality for differentiating benign and malignant lesions in various organs, including the testis. Testicular tumors, common in young men, are often treated with radical orchiectomy, which can have significant consequences. This study aimed to analyze CEUS parameters and their association with malignant testicular tumors. Materials and Methods: Between May 2009 and September 2020, 342 patients with suspected testicular lesions underwent CEUS at a tertiary referral center. Multiparametric ultrasound, including B-mode, Color Doppler, CEUS, and elastography, was performed. Exclusion criteria were the absence of a testicular lesion in the CEUS examination. Histological results, CEUS parameters, and elastography data were analyzed, and statistical correlations were evaluated using chi-square and Mann–Whitney U tests, with multivariate logistic regression for significant findings. Results: Of the 342 patients, 114 (33.3%) had suspicious CEUS findings, and 84 underwent surgical exploration. Malignancy was confirmed in 48 cases (57.1%). The sensitivity and specificity of CEUS for detecting malignancy were 93.8% and 85.2%, respectively. Contrast enhancement was observed in 93.3% of malignant tumors, but not statistically significant compared to benign lesions (p = 0.107). However, elastography revealed higher tissue stiffness in 77.8% of malignant tumors versus 41.0% in benign lesions (p = 0.009). Multivariate analysis indicated that tissue stiffness was significantly associated with malignancy (HR 8.29, 95%CI 1.26–54.58, p = 0.028). Conclusions: CEUS is a valuable tool for testicular lesion evaluation, with elastography showing strong potential in predicting malignancy through tissue stiffness. However, contrast enhancement and “wash-in/-out” were not reliable malignancy indicators. Further research is needed to standardize CEUS and elastography techniques for routine clinical use. Full article
(This article belongs to the Section Nephrology & Urology)
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16 pages, 1604 KiB  
Article
Predictive Value of Varicocele Grade and Histopathology in Simultaneous Varicocelectomy and Sperm Retrieval in Non-Obstructive Azoospermia: A Retrospective Cohort Study
by Aris Kaltsas, Fotios Dimitriadis, Michael Chrisofos, Nikolaos Sofikitis and Athanasios Zachariou
Medicina 2024, 60(12), 2056; https://doi.org/10.3390/medicina60122056 - 13 Dec 2024
Cited by 1 | Viewed by 1414
Abstract
Background and Objectives: Varicocele repair in men with non-obstructive azoospermia (NOA) remains a subject of debate due to inconsistent outcomes. This study aimed to evaluate the impact of microsurgical varicocelectomy on sperm recovery rates in men with NOA and to assess the role [...] Read more.
Background and Objectives: Varicocele repair in men with non-obstructive azoospermia (NOA) remains a subject of debate due to inconsistent outcomes. This study aimed to evaluate the impact of microsurgical varicocelectomy on sperm recovery rates in men with NOA and to assess the role of varicocele grade and testicular histopathology in predicting postoperative outcomes. Materials and Methods: A retrospective cohort study was conducted of 78 men diagnosed with NOA and clinical varicocele who underwent microsurgical subinguinal varicocelectomy with simultaneous diagnostic and therapeutic testicular biopsy at the Department of Urology of the University of Ioannina between September 2013 and December 2021. Varicoceles were graded I to III based on physical examination and Doppler ultrasound. Histopathological patterns were classified as hypospermatogenesis (HYPO), early maturation arrest (EMA), late maturation arrest (LMA), or Sertoli cell-only syndrome (SCOS). Patients were followed postoperatively at 3, 6, 9, and 12 months, with semen analyses performed according to World Health Organization guidelines to assess sperm presence. Results: At the 12-month follow-up, spermatozoa were detected in the ejaculate of 26 out of 78 patients, resulting in an overall sperm return to ejaculate rate of 33.3%. Varicocele grade significantly influenced outcomes: patients with Grade II varicoceles had the highest sperm return to ejaculate rate (45.2%, 14/31), followed by Grade III (39.1%, 9/23) and Grade I (12.5%, 3/24) (p-value < 0.05). The sperm retrieval rate (SRR) from testicular biopsies also varied with varicocele grade: Grade II had the highest SRR (54.8%, 17/31), followed by Grade III (47.8%, 11/23) and Grade I (33.3%, 8/24). Histopathological findings were significant predictors of sperm retrieval: patients with HYPO had an SRR of 84.8% (28/33) and a sperm return to ejaculate rate of 66.7% (22/33); those with LMA had an SRR of 47.1% (8/17) and a sperm return rate of 23.5% (4/17). No sperm retrieval was observed in patients with EMA (0%, 0/4) or SCOS (0%, 0/24) (p-value < 0.01). Multivariate logistic regression identified varicocele grade and histopathology as independent predictors of sperm retrieval, with higher grades and favorable histopathology associated with increased likelihood of success. Conclusions: Microsurgical varicocelectomy can induce spermatogenesis in a significant proportion of men with NOA, particularly those with higher-grade varicoceles and favorable histopathological patterns such as HYPO or LMA. Varicocele grade and histopathological findings are important predictors of postoperative outcomes and should inform patient selection and counseling. These findings provide valuable insights for optimizing fertility treatments in men with NOA undergoing varicocele repair. Full article
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8 pages, 7037 KiB  
Case Report
An Unusual Cause of Inguinal Mass in a Patient with Urolithiasis: A Case Report of Deep (Aggressive) Angiomyxoma in a Male Patient
by Christodoulos Chatzigrigoriadis, Vasileios Tatanis, Theodoros Spinos, Angelis Peteinaris, Angelos Samaras, Anastasios Thanos, Evangelos Liatsikos and Panagiotis Kallidonis
Clin. Pract. 2024, 14(6), 2705-2712; https://doi.org/10.3390/clinpract14060213 - 13 Dec 2024
Viewed by 1057
Abstract
Background: Deep or aggressive angiomyxoma is an uncommon neoplasm of the pelvis. Although deep angiomyxoma is a benign tumor, its tendency to infiltrate soft tissues and reach a large size (typically > 10 cm) indicates aggressive biological behavior. It is usually present in [...] Read more.
Background: Deep or aggressive angiomyxoma is an uncommon neoplasm of the pelvis. Although deep angiomyxoma is a benign tumor, its tendency to infiltrate soft tissues and reach a large size (typically > 10 cm) indicates aggressive biological behavior. It is usually present in female patients, but there have been recent reports of male-aggressive angiomyxoma. While rare, it is an important consideration in patients with a pelvic mass. The clinical presentation is non-specific; patients are either asymptomatic or present with non-specific complaints, such as dull pain, constipation, and dysuria. It is commonly mistaken for an inguinal hernia, hydrocele, testicular cancer, lipoma, and epididymal cyst in male patients, thus misguiding the management of these cases. Hence, preoperative evaluation with imaging studies (ultrasound, computed tomography, magnetic resonance imaging) and biopsy allows for an accurate diagnosis and treatment. Currently, the standard of treatment is surgical resection of the tumor with free margins. The role of hormone therapy is under investigation for patients with deep angiomyxoma positive for estrogen/progesterone receptors. Regular follow-up is necessary given the high recurrence rate of deep angiomyxoma (9–72%). Methods: We present a case of an elderly man who presented with hematuria due to urolithiasis and an asymptomatic inguinal mass mimicking an inguinal hernia. A computed scan (CT) of the abdomen confirmed the presence of the mass, which was removed surgically. Results: The pathologic examination of the tumor was consistent with deep angiomyxoma. Conclusions: The diagnosis of deep angiomyxoma should always be considered in patients with an inguinal mass to avoid delayed treatment and incomplete surgical excision. Full article
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17 pages, 634 KiB  
Review
Predictors of Successful Testicular Sperm Extraction: A New Era for Men with Non-Obstructive Azoospermia
by Aris Kaltsas, Sofoklis Stavros, Zisis Kratiras, Athanasios Zikopoulos, Nikolaos Machairiotis, Anastasios Potiris, Fotios Dimitriadis, Nikolaos Sofikitis, Michael Chrisofos and Athanasios Zachariou
Biomedicines 2024, 12(12), 2679; https://doi.org/10.3390/biomedicines12122679 - 25 Nov 2024
Cited by 4 | Viewed by 2341
Abstract
Background/Objectives: Non-obstructive azoospermia (NOA) is a severe form of male infertility characterized by the absence of sperm in the ejaculate due to impaired spermatogenesis. Testicular sperm extraction (TESE) combined with intracytoplasmic sperm injection is the primary treatment, but success rates are unpredictable, [...] Read more.
Background/Objectives: Non-obstructive azoospermia (NOA) is a severe form of male infertility characterized by the absence of sperm in the ejaculate due to impaired spermatogenesis. Testicular sperm extraction (TESE) combined with intracytoplasmic sperm injection is the primary treatment, but success rates are unpredictable, causing significant emotional and financial burdens. Traditional clinical and hormonal predictors have shown inconsistent reliability. This review aims to evaluate current and emerging non-invasive preoperative predictors of successful sperm retrieval in men with NOA, highlighting promising biomarkers and their potential clinical applications. Methods: A comprehensive literature review was conducted, examining studies on clinical and hormonal factors, imaging techniques, molecular biology biomarkers, and genetic testing related to TESE outcomes in NOA patients. The potential role of artificial intelligence and machine learning in enhancing predictive models was also explored. Results: Traditional predictors such as patient age, body mass index, infertility duration, testicular volume, and serum hormone levels (follicle-stimulating hormone, luteinizing hormone, inhibin B) have limited predictive value for TESE success. Emerging non-invasive biomarkers—including anti-Müllerian hormone levels, inhibin B to anti-Müllerian hormone ratio, specific microRNAs, long non-coding RNAs, circular RNAs, and germ-cell-specific proteins like TEX101—show promise in predicting successful sperm retrieval. Advanced imaging techniques like high-frequency ultrasound and functional magnetic resonance imaging offer potential but require further validation. Integrating molecular biomarkers with artificial intelligence and machine learning algorithms may enhance predictive accuracy. Conclusions: Predicting TESE outcomes in men with NOA remains challenging using conventional clinical and hormonal parameters. Emerging non-invasive biomarkers offer significant potential to improve predictive models but require validation through large-scale studies. Incorporating artificial intelligence and machine learning could further refine predictive accuracy, aiding clinical decision-making and improving patient counseling and treatment strategies in NOA. Full article
(This article belongs to the Section Molecular Genetics and Genetic Diseases)
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20 pages, 6486 KiB  
Case Report
Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the AMHR2 Gene and Literature Review
by Luminita Nicoleta Cima, Iustina Grosu, Isabela Magdalena Draghici, Augustina Cornelia Enculescu, Adela Chirita-Emandi, Nicoleta Andreescu, Maria Puiu, Carmen Gabriela Barbu and Simona Fica
Diagnostics 2024, 14(23), 2621; https://doi.org/10.3390/diagnostics14232621 - 21 Nov 2024
Viewed by 872
Abstract
Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise [...] Read more.
Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. Method: Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the AMHR2 gene to enable future genotype–phenotype correlations in this rare disorder. In addition, a search of PMDS associated with congenital anomalies reported in the literature was performed to provide a comprehensive overview of this pathology. Results: We present the case of a 13-year-old boy with a history of bilateral cryptorchidism. Two attempts of right orchidopexy were performed at the age of 4 and 5 years. At that time, exploratory laparoscopy identified an intra-abdominal left testicle. In addition, a fibrous structure extending from the left intra-abdominal testicle to the deep inguinal ring (Müllerian duct remnants) and a medially located abdominal mass, bilaterally fixated to the parietal peritoneum (uterine remnant), were detected. The left testicular biopsy revealed immature prepubertal testicular tissue. The uterine remnant was dissected and removed and the left orchidopexy was performed. The karyotype was 46, XY without other numerical or structural chromosomal abnormalities. Reinterventions on the left testicle were performed at the age of 9 and 12 years when a testicular remnant was identified in the left inguinal canal and removed. Three months after left orchidectomy, ultrasound followed by abdominopelvic MRI identified a structure resembling a testis in the left inguinal area. Another surgical exploration was performed, and a mass located outside (lateral) the inguinal canal was found. A biopsy from the suspected mass was performed. The histopathologic examination showed characteristics of immature prepubertal testis. The patient was later referred to our clinic with the suspicion of DSD. Serum AMH and inhibin B were normal. Therefore, the diagnosis of PMDS was suspected. Genetic testing was performed using next-generation sequencing in a gene panel that included AMH and AMHR2 genes. A homozygous variant classified as likely pathogenic in the AMHR2 gene was identified but remains unreported in the literature (NC_000012.11:g.53823315T>C in exon 8 of the AMHR2 gene). Conclusions: A high degree of suspicion and awareness is needed to diagnose this condition in order to avoid iterative surgery. The coexistence of two extremely rare conditions (PMDS and supernumerary testes) has been reported previously in only two patients, yet the association could have a common pathophysiologic background. Our case, reporting a novel AMHR2 variant, highlights the importance of genetic testing in these individuals in order to elucidate a possible genotype–phenotype correlation. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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11 pages, 230 KiB  
Article
Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study
by Rossella Mazzilli, Simona Petrucci, Virginia Zamponi, Bianca Golisano, Giulia Pecora, Camilla Mancini, Gerardo Salerno, Laura Alesi, Ilaria De Santis, Fabio Libi, Carla Rossi, Marina Borro, Salvatore Raffa, Vincenzo Visco, Giuseppe Defeudis, Maria Piane and Antongiulio Faggiano
J. Clin. Med. 2024, 13(15), 4399; https://doi.org/10.3390/jcm13154399 - 27 Jul 2024
Viewed by 1172
Abstract
Objectives: Evaluate the prevalence of genetic factors in a large population of infertile subjects and define the seminological, hormonal, and ultrasonographic features for each alteration. Methods: This single-center retrospective study included male partners of infertile couples undergoing genetic investigations due to oligozoospermia [...] Read more.
Objectives: Evaluate the prevalence of genetic factors in a large population of infertile subjects and define the seminological, hormonal, and ultrasonographic features for each alteration. Methods: This single-center retrospective study included male partners of infertile couples undergoing genetic investigations due to oligozoospermia or azoospermia evaluated from January 2012 to January 2022. The genetic investigations consist of karyotype, CFTR gene mutations plus variant of the IVS8-5T polymorphic trait, Y chromosome microdeletion, and Next Generation Sequencing panel to analyze genes implicated in congenital hypogonadotropic hypogonadism (CHH). Results: Overall, 15.4% (72/466) of patients received a diagnosis of genetic cause of infertility. Specifically, 23 patients (31.9%) harbor mutations in the CFTR gene, 22 (30.6%) have a 47, XXY karyotype, 14 (19.4%) patients show a Y chromosome microdeletion, 7 (9.7%) have structural chromosomal anomalies, and 6 (8.3%) have CHH. Overall, 80.6% of patients were azoospermic and 19.4% oligozoospermic (sperm concentration 3.5 ± 3.8 million/mL). Almost all patients presented hormonal alterations related to the specific genotype, while the main ultrasound alterations were testicular hypoplasia, calcifications/microcalcifications, and enlarged/hyperechoic epididymis. Conclusions: The prevalence of genetic abnormalities in males of infertile couples was 15.4% in our Center. CFTR gene disease-causing variants resulted in more frequent, with various clinical features, highlighting the complexity and heterogeneity of the presentation. Other investigations are needed to understand if conditions like ring chromosomes and other translocations are related to infertility or are incidental factors. Full article
17 pages, 2161 KiB  
Article
Multiparametric Ultrasound for Focal Testicular Pathology: A Ten-Year Retrospective Review
by Dean Y. Huang, Majed Alsadiq, Gibran T. Yusuf, Annamaria Deganello, Maria E. Sellars and Paul S. Sidhu
Cancers 2024, 16(13), 2309; https://doi.org/10.3390/cancers16132309 - 24 Jun 2024
Cited by 3 | Viewed by 1420
Abstract
Conventional ultrasonography (US), including greyscale imaging and colour Doppler US (CDUS), is pivotal for diagnosing scrotal pathologies, but it has limited specificity. Historically, solid focal testicular abnormalities often led to radical orchidectomy. This retrospective study evaluated the utilisation of contrast-enhanced ultrasound (CEUS) and [...] Read more.
Conventional ultrasonography (US), including greyscale imaging and colour Doppler US (CDUS), is pivotal for diagnosing scrotal pathologies, but it has limited specificity. Historically, solid focal testicular abnormalities often led to radical orchidectomy. This retrospective study evaluated the utilisation of contrast-enhanced ultrasound (CEUS) and strain elastography (SE) in investigating intratesticular focal abnormalities. A total of 124 cases were analysed. This study underscored the superior diagnostic capabilities of CEUS in detecting vascular enhancement in all malignant cases, even those with undetectable vascularity by CDUS. It also highlighted the potential of CEUS in identifying distinctive vascular patterns in benign vascular tumours. Definitive confirmation of benignity could be obtained when the absence of enhancement was demonstrated on CEUS. While SE alone offered no distinctive advantage in differentiating between benign and malignant pathologies, we demonstrated that incorporating a combination of CEUS and SE into the evaluation of focal testicular abnormalities could improve diagnostic performance metrics over conventional CDUS. Our findings underscore the role of advanced ultrasound techniques in enhancing the evaluation of focal testicular abnormalities in clinical practice and could aid a shift towards testis-sparing management strategies. Full article
(This article belongs to the Special Issue Updates on Imaging of Common Urogenital Neoplasms)
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9 pages, 1628 KiB  
Article
Intra- and Interobserver Variability in Ultrasound Measurement of Testicular Volumes in Pubertal Boys
by Frank-Mattias Schäfer, Daniel Bürgener, Maximilian Stehr and Oliver Rompel
Children 2024, 11(6), 741; https://doi.org/10.3390/children11060741 - 17 Jun 2024
Viewed by 1371
Abstract
Accurate measurement of testicular volume (TV) in boys is an important tool in clinical practice, e.g., in varicocele treatment. This study aims to assess the degree of intra- and interobserver variability of testicular volume measurements. In a prospective study, boys between 11 and [...] Read more.
Accurate measurement of testicular volume (TV) in boys is an important tool in clinical practice, e.g., in varicocele treatment. This study aims to assess the degree of intra- and interobserver variability of testicular volume measurements. In a prospective study, boys between 11 and 17 years of age without testicular pathology were enrolled. Testicular ultrasound was performed by three investigators (A: pediatric radiologist; B: pediatric surgery/urology resident; C: pediatric urologist). Intraobserver variability was calculated in investigators B and C and interobserver variability between all three investigators. A total of 30 boys were enrolled. Mean intraobserver variability in both observers was +0.3% with a range of −39.6 to 51.5%. The proportion of measurements with a difference >20% was 18.6%. The mean interobserver variability was −1.0% (range: −74.1% to 62.8%). The overall proportion of measurements with a difference >20% was 35%. A lower testicular size of < 4 mL showed a significantly higher rate of >20% difference in both the intraobserver group (31.1% vs. 14.4%; p = 0.035) and the interobserver group (63.2% vs. 26.2%; p = 0.000031). Furthermore, the rate of >20% difference was significantly lower in obese compared to non-obese patients in both the intraobserver (2.8% vs. 22.4%; p = 0.0084) and the interobserver group (24% vs. 40.8%, p = 0.0427). Both intraobserver and interobserver variability in ultrasound-based TV measurements in pubertal boys contain a relevant degree of uncertainty that renders them unsuitable for individualized follow-up care. At the cohort level, however, mean differences in ultrasound-based TV measurements are low enough to make ultrasound comparisons reasonable. Full article
(This article belongs to the Section Pediatric Surgery)
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5 pages, 2859 KiB  
Interesting Images
A Late Testicular Relapse in an Adult with Acute Lymphoblastic Leukemia, 5 Years after the Diagnosis and 4 Years after Allotransplant—A Rare Case
by Andrei Epure, C Florin Pop, Ciprian Juravle, Florin Grosu and Carmen Naicu
Diagnostics 2024, 14(9), 875; https://doi.org/10.3390/diagnostics14090875 - 23 Apr 2024
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Abstract
Acute lymphoblastic leukemia (ALL) is a malignant disorder of lymphoid progenitor cells that affects both pediatric and adult populations. Although isolated testicular or any other organ recurrence can occur in the pediatric population, it is rare in adults. We present images for an [...] Read more.
Acute lymphoblastic leukemia (ALL) is a malignant disorder of lymphoid progenitor cells that affects both pediatric and adult populations. Although isolated testicular or any other organ recurrence can occur in the pediatric population, it is rare in adults. We present images for an atypical case of the late testicular recurrence of acute lymphoblastic leukemia in a 56-year-old man previously diagnosed with ALL pro-T who was in remission following polychemotherapy (GMALL 2013 protocol) and the allotransplantation of peripheral blood stem cells from a related donor. Five years later (2022), the unilateral testicular relapse of ALL was suspected by imaging and diagnosed by immunophenotyping from sperm fluid infiltrated with atypical cells with an immunophenotype concordant with that of the underlying disease (ALL T). Bone marrow aspiration and biopsy showed no evidence of systemic leukemia relapse. Testicular ablation or chemotherapy and irradiation were considered. Given the strictly testicular relapse, orchiectomy would have been useful, but given the abdominal adenopathy, a chemotherapy course with HyperCVAD Block A was first required. Testicular relapse can occur at any age, and the recognition of this is important as it may be the first manifestation of systemic relapse. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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11 pages, 617 KiB  
Article
The Safety and Effectiveness of Single-Stage, Vessel-Preserving, Laparoscopic Orchiopexy for Intra-Abdominal Testes in Pediatric Patients: A 10-Year Single-Center Experience
by Zenon Pogorelić, Josipa Šitum, Tomislav Barić and Marijan Šitum
J. Clin. Med. 2024, 13(7), 2045; https://doi.org/10.3390/jcm13072045 - 1 Apr 2024
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Abstract
Objectives: Intra-abdominal testes are located in a variety of intra-abdominal positions, most less than 2 cm from the internal ring. Various surgical techniques of laparoscopic orchiopexy have been described to date. The aim of this study was to evaluate the safety and long-term [...] Read more.
Objectives: Intra-abdominal testes are located in a variety of intra-abdominal positions, most less than 2 cm from the internal ring. Various surgical techniques of laparoscopic orchiopexy have been described to date. The aim of this study was to evaluate the safety and long-term efficacy of a single-stage, vessel-preserving, laparoscopic orchiopexy for intra-abdominal testes in pediatric patients. Methods: A retrospective search of the medical records of 32 children (34 testes) who underwent single-stage, vessel preserving, laparoscopic orchiopexy for intra-abdominal testes between 1 January 2014 and 31 December 2023 was performed. Single-stage laparoscopic orchiopexies were performed in all patients for whom sufficient length of the spermatic cord was achieved during the procedure. The volume of each patient’s testes was measured using ultrasound before and 6 months after laparoscopic orchiopexy. The main outcome of this study was testicular volume before and after the procedure. The secondary outcomes were the occurrence of early and late complications, the duration of surgery, and the length of hospital stay. Results: The median age at the time of surgery was 10 months (interquartile range—IQR 9, 13). The majority of the children (n = 24; 75%) were less than 12 months old at the time of surgery. A normal testis was found in 24 patients (70.6%), while a hypotrophic testis was visible in 10 cases (29.4%). The majority of the testes were located near the internal ring (n = 19; 55.9%), while in the remaining cases, the testes were located near the iliac blood vessels. The median duration of the surgical procedure was 37.5 min (IQR 33, 42.5). The duration of hospitalization was one day for all the children. No intraoperative complications were observed. One child had a wound infection at the site of the umbilical trocar, which was treated conservatively. In two cases (5.5%), testicular atrophy was detected during long-term follow-up. In three cases, the testis was found in a higher position in the scrotum during the follow-up period, but in two cases, the position was normal during the follow-up period, while in one case, the position in the scrotum remained unchanged. At long-term follow-up with a median of 35 months (IQR 19, 60.5), the overall success rate was 94.5%. The median testicular volume at 6-month follow-up increased from 0.31 mL (IQR 0.28, 0.43) to 0.40 mL (IQR 0.33, 0.53) (p = 0.017). Conclusions: Single-stage, vessel-preserving, laparoscopic orchiopexies for intra-abdominal testes are safe and effective in pediatric patients in whom adequate spermatic cord length can be achieved during the procedure. Full article
(This article belongs to the Special Issue Minimal Access Surgery: Challenges in Clinical Practice)
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