Relevant bibliographies by topics / Testicules – Malformations

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Academic literature on the topic 'Testicules – Malformations'

Author: Grafiati
Published: 4 June 2021
Last updated: 4 February 2022

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Journal articles on the topic "Testicules – Malformations"

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Poupalou, Anna, George Spyridis, Marina Vakaki, Panagiota Giamarelou, George Petousis, and Pantelis Nikolaidis. "A Case of Cystic Dysplasia of the Rete Testis in a 17-Months-Old Boy." Case Reports in Medicine 2011 (2011): 1–4. http://dx.doi.org/10.1155/2011/389857.

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Cystic dysplasia of the testis (CDT) is a benign, congenital malformation of the testis and a rare cause of painless scrotal swelling in children, mimicking testicular cancer. It is commonly unilateral, often associated with ipsilateral wolffian duct and ureteral abnormalities. Cystic dysplasia of the rete testis (CDT) represents a diagnostic challenge made easier if age, precise localisation, typical ultrasonographic features, the presence or absence of associated genitourinary malformations, as well as tumor markers are considered. The definite treatment of such a benign lesion is testis-sparing surgery, however in most cases watch and wait strategy can be recommended. We present a case of cystic dysplasia of the testis in a 17-month-old boy with right multicystic dysplastic kidney, epididymal cyst, history of vesicoureteral reflux (VUR), as well as of solitary umbilical artery. We performed epididymidal cyst enucleation and right testicular biopsy.
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Fernandez-Pineda, Israel, and Lalit Parida. "Testicular haemangiomas and vascular malformations." Lancet Oncology 11, no. 9 (2010): 814. http://dx.doi.org/10.1016/s1470-2045(10)70122-4.

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3

De Paula, Georgette Beatriz, Beatriz Amstalden Barros, Stela Carpini, et al. "408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing." International Journal of Endocrinology 2016 (2016): 1–9. http://dx.doi.org/10.1155/2016/4963574.

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Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia.Methods. Retrospective study during 23 years at outpatient clinic of a referral center.Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment.Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.
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Trabert, Britton, Daniela Zugna, Lorenzo Richiardi, Katherine A. McGlynn, and Olof Akre. "Congenital malformations and testicular germ cell tumors." International Journal of Cancer 133, no. 8 (2013): 1900–1904. http://dx.doi.org/10.1002/ijc.28207.

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Kadouri, Youssef, Damien Carnicelli, Hachem El Sayegh, Lounis Benslimane, and Yassine Nouini. "Pathogenesis, Diagnosis, and Management of Splenogonadal Fusion: A Literature Review." Case Reports in Urology 2020 (October 8, 2020): 1–7. http://dx.doi.org/10.1155/2020/8876219.

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Introduction. Splenogonadal fusion is a rare congenital anomaly, defined by the presence of ectopic splenic tissue caused by an abnormal connection between the spleen and the gonad or mesonephrotic derivatives during the embryonic period. Materials and Methods. By reporting an observational case and performing a review of the literature according to the CARE guidelines (using the PubMed database and guidelines from urology, general surgery, and pediatric learned societies), we present the embryological genesis of the splenogonadal fusion, the associated anatomical anomalies, and the diagnostic procedure. Observation. We report the case of a patient aged 45, with no notable history, reporting left testicular pain. A small nodule on the upper pole of the left testicular was clinically palpable. Tumor markers were normal, and scrotal ultrasound depicted a hypoechoic hypervascular nodule measuring 8∗6∗8 mm. After validation in a multidisciplinary oncology consultation meeting and opinion from a uro-andrologist expert, the patient underwent an inguinal lumpectomy with an extemporaneous examination which did not objectify any signs of malignancy. Ultimately, it is a normal spleen tissue in the testicular ectopic position. Discussion. Splenogonadal fusion corresponds to a rare congenital malformation; less than 200 cases have been published in the literature, most often affecting boys, with a sex ratio of 15/1. Two types are described, depending on the continuity of the link between the orthotopic spleen and the gonad: the continuous and discontinuous forms. In a third of the cases, there are associated congenital malformations and particularly in the continuous forms (44 to 50% of the cases): anomalies of the limbs, micrognathia, microgyria, and hepatic and digestive abnormalities. Cryptorchidism is associated with the continuous form in 31% of cases. The preoperative diagnosis remains difficult because of its morphological and clinical characteristics suggesting a tumor process.
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Richie, Jerome P. "Re: Congenital Malformations and Testicular Germ Cell Tumors." Journal of Urology 192, no. 5 (2014): 1423. http://dx.doi.org/10.1016/j.juro.2014.08.017.

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7

Gulsen, Fatih, Ismail Mihmanli, Fatih Kantarci, Abdulkadir Eren, and Suleyman Onder Ataus. "Testicular Arteriovenous Malformation: Gray-Scale and Color Doppler Ultrasonography Features." Case Reports in Medicine 2011 (2011): 1–4. http://dx.doi.org/10.1155/2011/876206.

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Intratesticular arteriovenous malformations (AVMs) are extremely rare benign incidental lesions of the testis. Ultrasonography (US) generally reveals a hypoechoic solid mass within the testicular parenchyma. We describe a patient with intratesticular AVM which was found incidentally during workup for infertility. The gray-scale and Doppler US appearance of an intratesticular AVM and the differential diagnosis have been presented. Based on the gray-scale, US appearance differentiation from malignant testicular tumors is difficult. Doppler US examination aids in the diagnosis by demonstrating the vascular nature of the tumor.
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Tzvetkova, P. "Congenital anomalies of the mesonephronic duct and fertility." Acta chirurgica Iugoslavica 54, no. 2 (2007): 63–67. http://dx.doi.org/10.2298/aci0702063t.

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Agenesia of deferential duct and the others congenital malformations of mesonephronical duct are often encountering condition in andrological practice. This study presents the possibilities of reproductive medicine to restore the male fertility and concentrates on biological and clinical aspects of malformations of mesonephronic duct like factors for excretory male infertility. The investigations including 104 patients (mean age 30.25+1.91 years old) with congenital anomalies of mesonephronical duct with: Agenesia of mesonephronical derivates - case with unilateral agenesia of the deferent duct, kidney and left urether (n=1); Dysgenesia of the epididymis (n=5); Cysts of the epididymis (n=47); Agenesia of the deferential duct (n=48); Aplasia of the eja-culatorial duct (n=3). The following methods were used: open testicular biopsy by Vilar; objective findings in situ operation; bilateral epididymo - and deferentovesiculography; morphological specimens of the testicular and epididymal tissues; enzymohistochemical analysis of testicular specimens; the ejaculates and morphological analysis of spermatozoa were assessed for quality parameters by the standard protocol; enzymocytological research of spermatozoa in seminal fluid; biochemical analysis of seminal fluid fructose and citric acid concentrations; radioimmunoassay for measurements of blood FSH and testosterone concentration. Results: Most often observed localization of the malformations of mesonephronic canal is bilateral at 54.81%. The testicular specimens proved preserved testicular architecture and spermatogenesis, and the epididymal slides showed dilatation of the epididymal tubules, which were overfilled with a lot of spermatozoa. The strongest expression of the enzymichistochemical NADH-TR reactions is in the Sertoli cells. We observed spermatozoa with disrup-ted configuration among which the abnormalities in sperm head and acrosome were predominated. The biochemical analysis of seminal fluid proves normal citric acid and low or lack of fructose concentration in seminal fluid. There were no breaches in endocrine regulation of the reproductive process. Patients with congenital anomalies of mesonephronic canal have preserving fertility in 31.73%. There are morpho-functional disorders of the testes, epididymis and seminal ducts in 68.27%. Conclusion: There are normal spermatogenesis but definite sterility. These results necessitate an application of plastic reconstructive operation for recovery of fertilizing ability of the patients, or their involvement in ICSI programme. .
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Nistal, Manuel, José I. Rodríguez, Eugenia García-Fernández, Mariana M. Cajaiba, and Miguel Reyes-Múgica. "Fetal Gonadoblastoid Testicular Dysplasia: A Focal Failure of Testicular Development." Pediatric and Developmental Pathology 10, no. 4 (2007): 274–81. http://dx.doi.org/10.2350/06-09-0158.1.

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Fetal gonadoblastoid testicular dysplasia (FGTD) is an extremely rare lesion, which, in its original description, appeared in association with hydrops fetalis and other malformations. Its phenotype strongly resembles gonadoblastoma, although in contrast with that rare tumor, FGTD is not associated with the intersexual states or gonadal dysgenesis that accompany such neoplasm. Two reports described an association of FGTD and a morphologically similar lesion with Walker-Warburg syndrome. However, we have not confirmed such an observation, although a nonspecific muscle disorder was found in one of the examples we describe in this article. Here we study 2 additional cases, providing a detailed topographical, histomorphological, and immunophenotypical analysis. A review of all 5 previously described cases is conducted. The features of this lesion support the notion that a focal defect in testicular development is its most likely pathogenesis.
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De Carli, Claudio, Luis Guerra, and Michael Leonard. "Bilobed testicle in children: diagnosis and management." Canadian Urological Association Journal 3, no. 6 (2013): 87. http://dx.doi.org/10.5489/cuaj.1188.

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Bilobed testicle is an extremely rare testicular malformation inchildren. It may be presumed that this condition could be an incompleteexpression of polyorchidism; however, the etiology of bothentities remains unknown. In this report, a 3-year-old boy presentedwith a right bilobed testicle mimicking a testicular tumour. Sincethere are insufficient data in the pediatric literature presenting theideal management of bilobed testicles, we believe it is importantto report this case to provide more information about this condition.Although rare, bilobed testis should be considered in the differentialdiagnosis of a testicular mass. Surgical treatment is notmandatory, and conservative follow-up may play a role.
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Dissertations / Theses on the topic "Testicules – Malformations"

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Bergeron, Marie-Ève. "Effet de la cryptorchidie sur le transcriptome testiculaire humain." Master's thesis, Université Laval, 2012. http://hdl.handle.net/20.500.11794/23010.

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Les niveaux d’expression de nombreux gènes peuvent être affectés par l’environnement et mener au développement de la cryptorchidie. Cette malformation congénitale est la plus commune dont une des conséquences majeures est l’infertilité masculine due au testicule non-descendu, auquel un risque plus élevé de cancer testiculaire est associé. L’expression des ARN totaux isolés à partir de biopsies testiculaires ont été analysés par micropuces, puis par une analyse bio-informatique et une validation par RT-qPCR de plusieurs gènes sélectionnés. Ces analyses m’ont permis d’identifier plus de deux milles candidats montrant une expression différente entre des sujets cryptorchides et normaux. Certains de ces gènes sélectionnés peuvent être associés à la descente testiculaire, d’autres au cancer testiculaire ou encore aux divers types cellulaires retrouvés dans cet organe. Les différences dans le transcriptome dues à la cryptorchidie vont nous aider à comprendre la cause génétique de cette maladie.<br>Expression level of numerous genes may be affected by environmental condition and lead to development of cryptorchidism. The most common congenital malformation in male is cryptorchidism. One major consequence of this anomaly is infertility due to undescended testis, to which an increased risk of testicular cancer is associated. Expression of total RNAs isolated from testicular biopsies were analysed with microarray. This was followed by subsequent bioinformatic analysis and RT-qPCR validation of many highlighted genes. Those analyses allowed me to identified more than two thousand genes that showed a differential expression between normal and cryptorchid subjects. Among these highlighted and validated genes, some can be either associated to testicular descent, to testicular cancer, or to specific cell types in testes. Differences in transcriptome due to cryptorchidism should give us clues to identify the genetic causes of this malformation.
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Mallet, Delphine. "Déficits de la biosynthèse de la testotérone et anomalies de la différenciation testiculaire chez l'homme." Lyon 1, 2006. http://www.theses.fr/2006LYO10045.

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Les anomalies des organes génitaux peuvent être dues à un déficit de la biosynthèse de la testostérone ou à un défaut de la détermination testiculaire. L’étude moléculaire de 43 patients diagnostiqués sur des bases clinico-biologiques comme ayant un déficit en 17-hydroxylase/17,20-lyase ou une hyperplasie lipoïde des surrénales a permis de confirmer le diagnostic et d’établir des corrélations structure-fonction grâce aux études fonctionnelles des mutations, mais aussi de reconsidérer les diagnostics et de mettre en évidence une hétérogénéité génétique (implication d’autres gènes comme POR et CYP11A). En parallèle, l’identification de mutations du gène SF1 dans les dysgénésies gonadiques sans insuffisance surrénale a révélé pour la première fois le rôle du dosage génique dans le développement des surrénales et des gonades. Il semble ainsi qu’une demi-dose de ce récepteur nucléaire suffise pour le développement et la fonction des surrénales et des ovaires mais pas pour les testicules
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Books on the topic "Testicules – Malformations"

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Gardiner, Matthew D., and Neil R. Borley. Paediatric surgery. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199204755.003.0013.

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This chapter begins by discussing the basic principles of paediatric anatomy and physiology and paediatric abdominal pain before focusing on the key areas of knowledge, namely congenital abdominal wall defects, anorectal malformations, miscellaneous neonatal conditions, infantile hypertrophic pyloric stenosis, intussusception, penile conditions, testicular torsion, epididymitis and orchitis, infantile inguinal hernia and hydrocele, and testicular maldescent. The chapter concludes with relevant case-based discussions.
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Carton, James. Urological pathology. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198759584.003.0011.

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This chapter discusses urological pathology and covers diseases of the urinary tract managed by urologists. This includes genitourinary malformations, urinary tract infection, urinary tract obstruction, urinary calculi, cystic renal diseases, benign renal tumours, renal cell carcinoma (RCC), childhood renal tumours, urothelial carcinoma, benign prostatic hyperplasia (BPH), prostate carcinoma, testicular germ cell tumours, testicular non-germ cell tumours, paratesticular diseases, urethral diseases, penile diseases, and scrotal diseases.
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