RESUMO
Gene expression in meiotic cells in the testis is characterized by intense transcriptional activity and alternative splicing. These processes are mainly controlled by RNA-binding proteins expressed strongly in germ cells. Functional impairments in any of these proteins' functions can lead to defects in meiosis and thus severe male infertility. Here, we have identified a homozygous frameshift mutation (NM_014469.4:c.301dup; p.Ser101LysfsTer29) in the RNA-binding motif protein, X-linked like 2 (RBMXL2) gene in a man with an azoospermia due to meiotic arrest. As RBMXL2 is known to be crucial for safeguarding the meiotic transcriptome in mice testes, we hypothesized that this variant leads to cryptic splice site poisoning. To determine the variant's impact on spermatogenesis, we confirmed the absence of RBMXL2 protein in the patient's testis tissue and then evidenced abnormal expression of several spermatogenesis proteins (e.g. meiosis-specific with coiled-coil domain) known to be altered in rbmxl2 knock-out mice with meiotic arrest. Our results indicate that RBMXL2's function in spermatogenesis is conserved in mammals. We hypothesize that deleterious variant in the RBMXL2 gene can result in male infertility and complete meiotic arrest, due to the disruption of gene expression by cryptic splice site poisoning.
Assuntos
Azoospermia , Infertilidade Masculina , Humanos , Camundongos , Animais , Masculino , Sítios de Splice de RNA/genética , Mutação da Fase de Leitura , Azoospermia/induzido quimicamente , Azoospermia/genética , Azoospermia/metabolismo , Meiose/genética , Infertilidade Masculina/genética , Infertilidade Masculina/metabolismo , Espermatogênese/genética , Testículo/metabolismo , Proteínas de Ligação a RNA/genética , Mutação , Mamíferos/genética , Mamíferos/metabolismoRESUMO
BACKGROUND AND OBJECTIVES: To evaluate the pathological features and recurrence of incidental testis tumours treated by partial orchiectomy in a population of infertile men. METHODS: We retrospectively pooled, from four andrology referral centres, 32 patients diagnosed with testis mass during regular infertility workup. Patients included had an impaired sperm analysis and testis sparing surgery was performed to prevent secondary azoospermia or androgen therapy. RESULTS: Mean age was 36 (IQR, 32 to 37). The mean largest tumoral diameter was 8.5 mm (IQR, 5 to 10). A total of 25% (8 of 32) of patients had a malignant tumour (seminoma, 7 of 32, 22%; teratoma, 1 of 32, 3%) and 75% (24 of 32) had a benign lesion (Leydig cell tumour, 23 of 32, 72%; scar tissue, 1 of 32, 3%). Malignant tumours were then managed by total orchiectomy (six of eight) or by radiotherapy (two of eight). With a mean follow up of 26 months (IQR, 8 to 32), one patient (3%) had an homolateral recurrence, which was a Leydig cell tumour. Not a single patient developed metastasis. CONCLUSION: Seventy-five per cent of the tumours discovered during infertility management were of a benign pathology. A conservative approach could be proposed initially to avoid unnecessary orchiectomies. Orchiectomy and radiotherapy could be discussed as salvage therapies for malignant lesions.
Assuntos
Infertilidade Masculina/complicações , Orquiectomia , Tratamentos com Preservação do Órgão/métodos , Radioterapia , Neoplasias Testiculares/terapia , Adulto , Terapia Combinada , Seguimentos , Humanos , Infertilidade Masculina/patologia , Masculino , Estudos Retrospectivos , Neoplasias Testiculares/complicações , Resultado do TratamentoRESUMO
Background Ultrasensitive Doppler is a novel non-invasive ultrasound (US) Doppler technique that improves sensitivity and resolution for the detection of slow flow. Purpose To investigate the feasibility of ultrasensitive Doppler (USD) for testicular disease diagnosis, using both qualitative and quantitative results. Material and Methods This prospective study was conducted in 160 successive men referred for scrotal US including B-mode and conventional Color-Doppler. A new USD sequence and algorithm dedicated to academic research were implemented into the US system. The quality criterion for a successful examination was the detection of well delineated intratesticular vessels. Qualitative USD results were described in terms of tumor vascular architecture and flow intensity for different pathologies for 41 patients. The testicular vascularization (TV), defined as a vessel's surface ratio, was quantified using customized MATLAB® software and compared in azoospermic and normal patients. Results USD was acquired successfully in 153/160 patients (95.6%). The tumor vascular architecture differed depending on the nature of the tumors. Leydig cell tumors exhibited mostly circumferential vascularization, while germ cell tumors exhibited straight vessels through the tumors, or anarchic vascular maps. USD improved the diagnostic performance of testicular Doppler US in a case of incomplete spermatic cord torsion and acute epididymitis. The reproducibility of TV measurements established an interclass correlation of 0.801. Non-Klinefelter syndrome non-obstructive azoospermia patients exhibited a lower TV compared to normal patients, to Klinefelter syndrome, and to obstructive azoospermia patients ( P < 0.002, P < 0.005, and P < 0.05, respectively). Conclusion Testicular USD can become a promising technique for improving US diagnosis of tumors, acute scrotum, and for determining infertility status.
Assuntos
Escroto/diagnóstico por imagem , Doenças Testiculares/diagnóstico por imagem , Ultrassonografia Doppler/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Viabilidade , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto JovemRESUMO
Multiparametric testicular ultrasound and magnetic resonance imaging (MRI) findings were analyzed in a series of 10 infertile asymptomatic men presenting with pathologically confirmed burned-out testicular tumors. Color/power Doppler ultrasound (CDUS), shear wave elastography (SWE), contrast-enhanced ultrasonography (CEUS), and MRI were performed on 10, 5, 6, and 7 patients, respectively. All lesions appeared as a hypoechoic and hypovascular nodular area at CDUS, SWE, CEUS CDUS, and CEUS (if performed). Shear wave elastography showed a stiffer nodular area compared with the surrounding/contralateral tissues (13 versus 2 kPa); MRI revealed a well-delineated nodular area in hypointense signal on T2, a high apparent diffusion coefficient value, and a lack of enhancement.
Assuntos
Infertilidade/complicações , Imageamento por Ressonância Magnética/métodos , Neoplasias Testiculares/complicações , Neoplasias Testiculares/diagnóstico por imagem , Ultrassonografia/métodos , Adulto , Meios de Contraste , Técnicas de Imagem por Elasticidade , Humanos , Aumento da Imagem , Masculino , Testículo/diagnóstico por imagem , Ultrassonografia Doppler em CoresRESUMO
OBJECTIVE: To review long-term oncological and functional outcomes of testicular-sparing surgery (TSS) in men presenting with bilateral or monorchide testicular tumours at one of five reference centres for testicular neoplasm and infertility. PATIENTS AND METHODS: We review 25 cases of bilateral synchrone and metachrone testicular tumours treated in five academic centres between 1984 and 2013. Clinical, biological, ultrasonography and pathological tumour findings, overall survival (OS) times, local or metastatic recurrence, pre- and postoperative hormonal profile, paternity and the need for androgen substitution were assessed. RESULTS: Eleven patients with a bilateral synchrone tumour and 14 patients with a testicular tumour on a solitary testicle underwent a tumorectomy. The mean (sem) patient age was 31.9 (1.04) years, total testosterone level was 4.5 (0.57) ng.mL and tumour size was 11.66 (1.49) mm. Tumour types were as follows: 11 seminoma, nine non-seminomatous or mixed germ cell tumours, four Leydig tumours, and one hamartoma. Frozen-section examination was performed in 14 patients, and matched the final pathological analysis in 11 patients. There was an OS rate of 100% and three patients (12%) presented with a local recurrence after a mean follow-up of 42.7 months. Radical orchiectomy was performed for six patients. No patient with a preserved testicle required androgen therapy; the mean postoperative total testosterone level was 4.0 ng/mL. No patient remained fertile after radiation therapy. CONCLUSIONS: TSS for bilateral testicular tumour is safe and effective in selected patients, and should be considered to avoid definitive androgen therapy. Adjuvant radiotherapy remains poorly described in the literature, leading to adjuvant treatment heterogeneity for testicular tumours.
Assuntos
Tratamentos com Preservação do Órgão/métodos , Neoplasias Testiculares/epidemiologia , Neoplasias Testiculares/cirurgia , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Estudos Retrospectivos , Neoplasias Testiculares/patologia , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma. METHODS: Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics. RESULTS: 97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, with CBAVD being the reason for referral in 76%. In 166/179 patients with available detailed clinical features, final diagnoses were: four late-onset marked pulmonary disease, 83 isolated CBAVD, 67 other CFTR-related phenotypes, including 44 CBAVD with pulmonary and/or pancreatic symptoms and 12 asymptomatic cases. Respiratory symptoms were observed in 30% of the patients, but the overall phenotype was mild. No correlation was observed between sweat chloride concentrations and disease severity. Five couples at risk of CF offspring were identified and four benefited from prenatal or preimplantation genetic diagnoses (PND or PGD). Eight children were born, including four who were compound heterozygous for p.Arg117His and one with a severe CF mutation. CONCLUSIONS: Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up. Depending on the CBAVD patients' genotype, a CFTR analysis should be considered in their partners in order to identify CF carrier couples and offer PND or PGD.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Doenças Urogenitais Masculinas/genética , Diagnóstico Pré-Natal , Criança , Pré-Escolar , Fibrose Cística/complicações , Fibrose Cística/patologia , Feminino , Heterozigoto , Humanos , Lactente , Recém-Nascido , Infertilidade Masculina/complicações , Infertilidade Masculina/genética , Masculino , Doenças Urogenitais Masculinas/complicações , Doenças Urogenitais Masculinas/patologia , Mutação , Taxa de Mutação , Fenótipo , Suor/química , Ducto Deferente/anormalidades , Ducto Deferente/patologiaRESUMO
INTRODUCTION: Andrology and urogenital reconstruction are emerging disciplines in French urology. The aim of our study was to evaluate the evolution of andrological surgical procedures over the period 2013-2022 using national data. MATERIALS AND METHODS: We collected national common classification of medical acts (CCAM) coding data for all procedures involving andrological surgery from the Scansanté internet platform set up by the Technical Agency for Information on Hospitalisation, which collects prospectively from healthcare structures all procedures coded according to CCAM coding. All surgical procedures in andrology were selected. The inclusion period extended from 2013 to 2022. RESULTS: In 10 years, the number of vasectomies has increased tenfold, with 29,890 cases in 2022. Vaso-vasostomies remain marginal, with 80 cases per year. Trans-identity surgeries are rising sharply. Vaginoplasties have multiplied by 4 (333 in 2022) and masculinising surgeries have multiplied by 10 (234 in 2022). Penile prosthesis surgery has increased slightly over 10 years. The number of testicular biopsies has remained stable over time, as has the number of surgeries for curvature of the penis. CONCLUSION: Two andrological surgeries are showing very strong growth: vasectomy and transgender surgery. The emergence of these 2 activities is linked to societal aspirations. Urologists need to be trained to meet this demand. NIVEAU DE PREUVE: Grade 4.
Assuntos
Vasectomia , Humanos , França , Masculino , Feminino , Vasectomia/estatística & dados numéricos , Procedimentos Cirúrgicos Urológicos/estatística & dados numéricos , Cirurgia de Readequação Sexual , AndrologiaRESUMO
OBJECTIVE: AI-derived language models are booming, and their place in medicine is undefined. The aim of our study is to compare responses to andrology clinical cases, between chatbots and andrologists, to assess the reliability of these technologies. MATERIAL AND METHOD: We analyzed the responses of 32 experts, 18 residents and three chatbots (ChatGPT v3.5, v4 and Bard) to 25 andrology clinical cases. Responses were assessed on a Likert scale ranging from 0 to 2 for each question (0-false response or no response; 1-partially correct response, 2- correct response), on the basis of the latest national or, in the absence of such, international recommendations. We compared the averages obtained for all cases by the different groups. RESULTS: Experts obtained a higher mean score (m=11/12.4 σ=1.4) than ChatGPT v4 (m=10.7/12.4 σ=2.2, p=0.6475), ChatGPT v3.5 (m=9.5/12.4 σ=2.1, p=0.0062) and Bard (m=7.2/12.4 σ=3.3, p<0.0001). Residents obtained a mean score (m=9.4/12.4 σ=1.7) higher than Bard (m=7.2/12.4 σ=3.3, p=0.0053) but lower than ChatGPT v3.5 (m=9.5/12.4 σ=2.1, p=0.8393) and v4 (m=10.7/12.4 σ=2.2, p=0.0183) and experts (m=11.0/12.4 σ=1.4,p=0.0009). ChatGPT v4 performance (m=10.7 σ=2.2) was better than ChatGPT v3.5 (m=9.5, σ=2.1, p=0.0476) and Bard performance (m=7.2 σ=3.3, p<0.0001). CONCLUSION: The use of chatbots in medicine could be relevant. More studies are needed to integrate them into clinical practice.
Assuntos
Andrologia , Inteligência Artificial , Feminino , Humanos , Masculino , Reprodutibilidade dos TestesRESUMO
The French law regulating assisted reproductive technologies forbids donor spermatozoa to be available in case of failed testicular sperm extraction (TESE) performed on the day of oocyte retrieval. This article reports the first French live birth after intracytoplasmic sperm injection of donated spermatozoa into frozen-thawed oocytes cryopreserved following failure of TESE. By reinforcing the relevance of TESE performed on the day of oocyte retrieval, oocyte cryopreservation in couples having beforehand consented to go to sperm donation will avoid cycle cancellation and potentially lead to successful live birth. Therefore, it could modify the French policy of management of patients suffering from non-obstructive azoospermia.
Assuntos
Azoospermia/terapia , Criopreservação , Oócitos , Injeções de Esperma Intracitoplásmicas/legislação & jurisprudência , Recuperação Espermática/legislação & jurisprudência , Adulto , Feminino , França , Humanos , Masculino , Indução da Ovulação , Gravidez , Resultado da Gravidez , Técnicas de Reprodução Assistida/legislação & jurisprudência , Resultado do TratamentoRESUMO
OBJECTIVES: An increasing number of incidental testicular tumors are diagnosed in patients during infertility workup. The aim of this study was to evaluate the accuracy of frozen section examination (FSE) for the management of these tumors. METHODS: We retrospectively studied a series of 46 testicular tumors diagnosed during exploration for infertility from 2000 to 2019 and submitted for FSE. RESULTS: A diagnosis of malignancy was made in 23 cases on both gross examination (yellow-white or cream-colored nodules for seminomas) and FSE, then confirmed on final diagnosis in 22 of the cases. One seminoma reported on FSE was revised as being a Leydig cell tumor. The 23 other lesions were diagnosed as benign on FSE, including 11 Leydig cell tumors (yellow-brown nodules), 2 Leydig cell hyperplasias, and 10 whitish fibrous lesions. All Leydig cell lesions were confirmed except 1, which was reclassified as a Sertoli cell tumor. Of the 10 cases of fibrous lesions, 6 were associated with malignancy. CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.
Assuntos
Infertilidade , Tumor de Células de Leydig , Seminoma , Neoplasias Testiculares , Humanos , Infertilidade/complicações , Tumor de Células de Leydig/complicações , Tumor de Células de Leydig/diagnóstico , Tumor de Células de Leydig/patologia , Masculino , Estudos Retrospectivos , Seminoma/complicações , Seminoma/diagnóstico , Seminoma/patologia , Neoplasias Testiculares/patologiaRESUMO
We prospectively evaluated the performance of combined shear wave elastography (SWE) and conventional ultrasound (US) for the characterization of 89 testicular focal masses. Testes were evaluated with B-mode, color Doppler and SWE measurements, locating a region of interest on the normal and pathologic parenchyma. Thirty-seven malignant tumors (MTs), 12 burned out tumors (BOTs), 28 Leydig cell tumors (LCTs), 2 dermoid cysts and other benign lesions were included. MTsâ¯+â¯BOTs exhibited more microliths and macrocalcifications compared with benign lesions (p < 10-4). LCTs manifested mostly a dominant peripheral vascularization pattern compared with other lesions. MTsâ¯+â¯BOTs were stiffer compared with benign lesions (p < 2â¯×â¯10-4) but with a moderate area under the receiver operating characteristic curve (AUROC) of 80%. By focusing on LCTs versus MTsâ¯+â¯BOTs, diagnostic performance led to an AUROC of 89% for the best stiffness parameter. For combined conventional US and SWE, the diagnostic performance to differentiate all benign lesions versus MTsâ¯+â¯BOTs and LCTs versus MTsâ¯+â¯BOTs increased to AUROCs of 93% and 98%, respectively.
Assuntos
Neoplasias Testiculares/diagnóstico por imagem , Ultrassonografia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Técnicas de Imagem por Elasticidade , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Testículo/diagnóstico por imagem , Adulto JovemRESUMO
Phyllodes tumours of the prostate are very rare tumours, as less than 40 cases have been reported in the literature. The authors report the case of a 28-year-old man managed for a phyllodes tumour of the prostate diagnosed in a context of haemospermia. The diagnosis was established by ultrasound, CT MRI and prostatic biopsies. Radical prostatectomy was performed after multidisciplinary discussion. Thirty six months after the operation, the patient was in complete remission, with spontaneous erections and had fathered a child conceived by medically assisted procreation. The authors stress the importance of nerve-sparing radical surgery and early sexual rehabilitation.
Assuntos
Tumor Filoide/diagnóstico , Neoplasias da Próstata/diagnóstico , Adulto , Humanos , MasculinoRESUMO
OBJECTIVE: To assess sperm quality as a function of the sampling site (testis or epididymis) in obstructive azoospermia (OA). MATERIALS AND METHODS: DNA fragmentation rates in spermatozoa sampled from the testis and epididymis (from patients with different etiologies of OA) were assessed in a dUTP nick-end labeling assay. RESULTS: Twenty-one OA patients were included: 5 had congenital bilateral absence of the vas deferens, 8 had genital tract infections, and 8 had idiopathic OA. A total of 8506 spermatozoa sampled from the testis, 18,358 sampled from the caput epididymis, and 18,881 sampled from the corpus/cauda epididymis were assessed. For each patient, spermatozoa from the testis had a lower overall DNA fragmentation rate (6.71% ± 0.75 in average) than epididymal spermatozoa from the caput (14.86% ± 1.89 in average; P = .0007) or the corpus/cauda (32.61% ± 3.11 in average; P < .0001). The DNA fragmentation rates did not differ significantly as a function of the etiology of OA. In this small series, all deliveries were obtained with sperm samples with a low DNA fragmentation rate and delivery rates tended to be higher when testicular sperm (rather than epididymal sperm) was used (35.7% vs 12.1%, respectively; P = .06). CONCLUSION: Our data argue in favor of using testicular sperm (rather than epididymal sperm) for patients with obstructive azoospermia.
Assuntos
Azoospermia/diagnóstico , Epididimo/citologia , Oligospermia/diagnóstico , Espermatozoides/patologia , Testículo/citologia , Adulto , Fragmentação do DNA , Feminino , Humanos , Marcação In Situ das Extremidades Cortadas , Masculino , Estudos Retrospectivos , Ducto Deferente/anormalidadesRESUMO
Our aim in the study described here was to prospectively establish the feasibility of using and reproducibility of testicular shear-wave elastography in the assessment of testicular stiffness in 62 normal patients and 539 infertile men with obstructive azoospermia (OA), non-Klinefelter syndrome non-obstructive azoospermia (non-KS NOA), Klinefelter syndrome NOA (KS NOA), oligoasthenoteratozoospermia (OAT) or a left varicocele. The feasibility rate was 96.9%, with an intra-class correlation coefficient of 0.85 (95% confidence interval: 0.83-0.88). Median stiffness (interquartile range) values were 2.4 kPa (2.0, 2.9), 2.1 kPa (1.8, 2.5), 2.4 kPa (2.0, 2.7), 2.0 kPa (1.7, 2.4), 2.6 kPa (2, 3.2) and 2.2 kPa (1.8, 2.6) for men with a normal testis (n = 108), OAT (n = 689), OA (n = 119), non-KS NOA (n = 183), KS NOA (n = 70) and varicocele (n = 132), respectively. Testicular shear wave elastography is a feasible and reproducible technique. A significant positive association was found between stiffness and testis volume (p = 0.001). Testicular stiffness was higher in OA than in non-KS NOA populations (p = 1.e-10) and in KS NOA than in NOA populations (p = 2.0e-8), but the substantial number of overlapping values limited the clinical impact.
Assuntos
Técnicas de Imagem por Elasticidade/métodos , Infertilidade/diagnóstico por imagem , Testículo/diagnóstico por imagem , Humanos , Masculino , Estudos Prospectivos , Reprodutibilidade dos TestesRESUMO
Despite progress in human reproductive biology, the cause of male infertility often remains unknown, due to the lack of appropriate and convenient in vitro models of meiosis. Induced pluripotent stem cells (iPSCs) derived from the cells of infertile patients could provide a gold standard model for generating primordial germ cells and studying their development and the process of spermatogenesis. We report the characterization of a complex chromosomal rearrangement (CCR) in an azoospermic patient, and the successful generation of specific-iPSCs from PBMC-derived erythroblasts. The CCR was characterized by karyotype, fluorescence in situ hybridization and oligonucleotide-based array-comparative genomic hybridization. The CCR included five breakpoints and was caused by the inverted insertion of a chromosome 12 segment into the short arm of one chromosome 7 and a pericentric inversion of the structurally rearranged chromosome 12. Gene mapping of the breakpoints led to the identification of a candidate gene, SYCP3. Erythroblasts from the patient were reprogrammed with Sendai virus vectors to generate iPSCs. We assessed iPSC pluripotency by RT-PCR, immunofluorescence staining and teratoma induction. The generation of specific-iPSCs from patients with a CCR provides a valuable in vitro genetic model for studying the mechanisms by which chromosomal abnormalities alter meiosis and germ cell development.
Assuntos
Eritroblastos/fisiologia , Células-Tronco Pluripotentes Induzidas/fisiologia , Infertilidade Masculina/patologia , Proteínas Nucleares/genética , Vírus Sendai/genética , Espermatócitos/fisiologia , Testículo/patologia , Adulto , Atrofia , Proteínas de Ciclo Celular , Diferenciação Celular , Células Cultivadas , Técnicas de Reprogramação Celular , Inversão Cromossômica/genética , Cromossomos Humanos Par 12/genética , Hibridização Genômica Comparativa , Proteínas de Ligação a DNA , Feminino , Estudos de Associação Genética , Humanos , Hibridização in Situ Fluorescente , Infertilidade Masculina/genética , Cariotipagem , Masculino , Meiose/genéticaRESUMO
OBJECTIVE: To assess the colour Doppler and ultrasound features of testicular Leydig cell tumours (LCTs) in a population of 38 surgically proven lesions. METHODS: From August 2008 to March 2015, we retrospectively included 38 surgically proven LCTs in 36 patients. Clinical data, scrotal colour Doppler, B-mode ultrasound and videos images were reviewed for each patient. The volume, echotexture of the testis, size, shape, echogenicity and the vascularization pattern of the lesion were evaluated. The tumour margins were categorized as either smooth or lobulated. The vascularization was classified as intense, moderate or without any hypervascularization. We defined the vascularization pattern groups as central, peripheral and mixed (the latter meaning both central and peripheral). RESULTS: 26 patients were referred for infertility [5 patients were subsequently diagnosed with Klinefelter syndrome (KS) and 5 patients with cryptorchidism]. 28 patients underwent testis-sparing surgery, while 8 patients underwent a radical orchiectomy. The LCTs were mostly infracentimetric (68.4%), with a median size of 7.0 mm (ranging from 4.0 to 11 mm). 50% of the lesions had lobulated margins, and these were significantly larger than the smooth lesions (p < 0.05). The content of the lesions was markedly homogeneous and hypoechoic. All lesions had sharp demarcations from the adjacent pulp. 36/38 lesions exhibited moderate-to-intense hypervascularization, with a mixed intrinsic and peripheral rim pattern. Larger lesions were more hypervascularized (p < 0.05). LCTs in patients with KS had atypical features. CONCLUSION: Typical sporadic LCTs appeared as isolated hypoechoic, infracentimetric masses, with a clear demarcation from the adjacent pulp. They presented intrinsic and peripheral rim hypervascularization. ADVANCES IN KNOWLEDGE: By undertaking the largest imaging series of LCT to date (to our knowledge), we reassessed the typical sonographical aspects of LCTs, so as to provide guidance in regard to opting for testis-sparing surgery and for follow-up. LCTs present both intrinsic and rim vascularization detectable by colour Doppler ultrasound. Intrinsic vascularization and lobulated margins are common findings in testicular LCTs.
Assuntos
Interpretação de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/métodos , Tumor de Células de Leydig/diagnóstico por imagem , Neoplasias Testiculares/diagnóstico por imagem , Testículo/diagnóstico por imagem , Ultrassonografia Doppler em Cores/métodos , Adolescente , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto JovemRESUMO
OBJECTIVE: To compare the testicular Color Doppler ultrasound (US), hormone levels, and histological results from 67 infertile men with Klinefelter syndrome (KS), vs. 66 non-KS non-obstructive azoospermic men. METHODS: Scrotal US images were collected from 67 infertile KS and 66 non-obstructive, non-KS azoospermic men. The testis volume, echotexture, vascularity, and microliths were evaluated and graded. We defined the following echo pattern alteration groups: normal, striated, coarse, and measurable nodules. The vascularization was classified as low, normal, moderate, or strong. Testosterone, follicle-stimulating hormone, luteinizing hormone, and inhibin B levels were determined. Large testicular nodules were removed. A testicular biopsy and sperm extraction was performed in 18 of the KS, and all of the 66 non-KS men. RESULTS: The mean testis volume was low in the KS, compared to the non-KS patients: i.e., 2 vs. 8 mL (P < 0.0001). The distributions in the echotexture groups differed markedly, with coarse or nodular patterns in the KS men, and normal/striated patterns in the control patients (P < 0.0001). The vascularization and microlithiasis grades were higher in the KS patients than the control men (P < 0.0001 and P < 0.001, respectively). All of the nodules removed from the KS patients were benign Leydig cell tumors, and all of the biopsies showed marked Leydig cell hyperplasia, with spermatogenesis in only two patients. The non-KS biopsies were predominantly Sertoli cell-only syndrome. CONCLUSIONS: Small testes, with a coarse or nodular echotexture, hypervascularization, and microlithiasis are associated with KS. The KS nodules were benign Leydig cell tumors/hyperplasias.
Assuntos
Infertilidade/complicações , Síndrome de Klinefelter/diagnóstico por imagem , Testículo/diagnóstico por imagem , Ultrassonografia Doppler em Cores/métodos , Adulto , Humanos , Infertilidade/diagnóstico por imagem , Síndrome de Klinefelter/complicações , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
PURPOSE: To evaluate qualitative, semi-quantitative, and quantitative parameters obtained by dynamic contrast-enhanced (DCE)-MRI for the characterization of histologically proven, non-palpable, incidentally found intratesticular tumors. MATERIALS AND METHODS: From 2006 to 2014, we included men with non-palpable, incidentally found testicular tumors on ultrasound, normal tumoral marker levels,referred for surgery. DCE-MRI data were analyzed retrospectively and independently by two radiologists blinded to the histological diagnosis. The visual enhancement patterns, time-signal intensity curves, shape of the curves (type 0-3), maximal relative enhancement (Peak), initial enhancement slope (IS), time to peak (TTP), as well as transfer constants Ktrans and Kep were compared between the tumors. The interobserver correlation was evaluated. Receiver Operating Characteristic (ROC) curves and areas under the curve (AUC) were extracted. RESULTS: Thirty-one patients (mean age of 37.3 years) were included. Tumor mean size was 1.2±0.77 cm (min=0.3cm, max=2.8cm). Regarding the histology results, three groups were defined: Twelve stromal "benign tumors" (BT) exhibited more type 2 and type 3 curves than 12 "malignant tumors" (MT) and 7 "burned-out tumors" (BOT) (p<0.0001). BT had a higher peak (96 vs. 54 and 17%), shorter TTP (215 vs. 412 and 692 sec), higher IS (73 vs. 12 and 2 arbitrary units), higher Ktrans (255 vs. 88 and 14min-1*1000) and higher Kep (554 vs. 159 and 48min-1*1000) than MT and BOT, respectively (p<0.0001, p=0.0003, p<0.0001, p<0.0001 and p<0.0001, respectively). The agreement coefficient values and the AUC extracted after gathering MT with BOT varied from 0.83 to 0.96 and from 0.868 to 0.978, respectively. CONCLUSION: DCE-MRI may assist in differentiating between benign intratesticular stromal tumors,malignant and burned-out tumors.
Assuntos
Meios de Contraste/administração & dosagem , Achados Incidentais , Imageamento por Ressonância Magnética/métodos , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/patologia , Adulto , Idoso , Diagnóstico Diferencial , Humanos , Aumento da Imagem , Interpretação de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Curva ROC , Estudos RetrospectivosRESUMO
OBJECTIVE: To evaluate the influence of body mass index (BMI) on semen characteristics. DESIGN: Cohort study. SETTING: Single private andrology laboratory. PATIENT(S): All patients (n=10,665) consulting for a semen analysis from October 9, 2010, to October 8, 2011. When analyses were repeated on the same patient, only the first was included. INTERVENTION(S): Recording of self-reported weight and height and of semen analysis. MAIN OUTCOME MEASURE(S): All parameters of standard semen analysis: pH, volume, sperm concentration per mL, total sperm count per ejaculate, motility (%) within 1 hour after ejaculation (overall and progressive), viability (%), and normal sperm morphology (%). Parametric and nonparametric statistical methods were applied, and results are given either with mean±SD, or 10th, 50th, and 90th percentiles. RESULT(S): Semen volume decreased from 3.3±1.6 to 2.7±1.6 mL when BMI increased from normal (20-25 kg/m2) to extreme obesity (>40 kg/m2). The same was true for semen concentration (56.4±54.9 to 39.4±51.0 million/mL), total sperm count (171±170 to 92±95 million), and progressive motility (36.9±16.8% to 34.7±17.1%). The percentage of cases with azoospermia and cryptozoospermia increased from 1.9% to 9.1% and from 4.7% to 15.2%, respectively. The other semen characteristics were not affected. Multivariate models including age and abstinence duration confirmed these results. CONCLUSION(S): In this study, on a large patient sample size, increased BMI was associated with decreased semen quality, affecting volume, concentration, and motility. The percentage of normal forms was not decreased.