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Ectopic testis

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https://www.readbyqxmd.com/read/28094762/persistent-mullerian-duct-syndrome-with-transverse-testicular-ectopia-a-novel-amh-receptor-mutation
#1
Özlem Korkmaz, Samim Özen, Nurhan Özcan, Petek Bayındır, Sait Şen, Hüseyin Onay, Damla Gökşen, Ali Avanoğlu, Ferda Özkınay, Şükran Darcan
Persistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure (testis/?) was palpated during the physical examination of a 13-month-old male patient who admitted because of bilateral undescended testes. Structures suggestive of ovaries, a uterus and fallopian tubes were observed during laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed wıth a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c...
January 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28053928/synaptonemal-complex-protein-3-transcript-analysis-in-breast-cancer
#2
Maryam Beigom Mobasheri, Reza Shirkoohi, Mohammad Hossein Modarressi
BACKGROUND: Breast cancer is the most frequent cancer in women. Cancer/Testis antigens are immunogenic proteins ectopically expressed in human neoplasms. Synaptonemal complex protein 3 (SYCP3) belongs to cancer/testis genes family involved in meiotic events and spermatogenesis. The aim of this study was to express analysis of SYCP3 in breast cancer and validate it as a breast cancer biomarker. METHODS: Expression of SYCP3 transcripts in 47 breast tumors, 6 breast cancer cell lines (MCF7, SKBR3, T47D, BT474, MDA-MB-231 and MDA-MB 468), 5 normal breast and 2 testis tissues was studied by Real Time RT-PCR reaction...
December 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28024737/testicular-ectopia-why-does-it-happen-and-what-do-we-do
#3
Vishal V Punwani, Jeremy S Y Wong, Christopher Y H Lai, Jessalynn C Y Chia, John M Hutson
BACKGROUND/AIM: Testicular ectopia is rare, but the large range of anatomical locations described in the literature has spawned an abundance of possible theories to explain etiology. However, as the anatomical characteristics of normal testicular descent have only been elucidated recently, many of the theories of testicular ectopia do not incorporate this new perspective. In this study we aimed to determine what was in the literature about ectopic testis since 1980, and then try to explain the different anatomical variants in the light of current knowledge about testicular descent...
December 21, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27917664/abdominal-wall-ectopic-testis-torsion-mimicking-a-spigelian-hernia-in-an-adult
#4
M Natarajan, H M Alnajjar, C I Woodward, M Tshuma, T Marshall, M Rochester
We report an unusual case of an ectopic testis identified in a 37-year-old man presenting with acute severe right iliac fossa pain and an irreducible mass. Initially diagnosed as a Spigelian hernia, computed tomography and ultrasonography identified the presence of an ectopic testis in the abdominal wall. Interparietal testicular ectopia is an extremely rare condition. We present and discuss the first case in the literature of an ectopic testis located between the internal and external oblique muscle layers of the anterior abdominal wall in an adult...
December 5, 2016: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/27895724/expression-profile-of-spaca5-spaca5-in-spermatogenesis-and-transitional-cell-carcinoma-of-the-bladder
#5
Xiao-Yue Zhang, Qiu-Xia Yan, Xiao-Yan Guo, Cai-Rong Chen, Run-Qiang Chen, Zhi-Ming Cai, Ai-Fa Tang
The majority of bladder cancer-associated mortalities are due to transitional cell carcinoma (TCC), which is the most prevalent and chemoresistant malignancy of the bladder. Sperm acrosome associated 5 (SPACA5)/Spaca5 is a sperm acrosome-associated, c-type lysozyme-like protein that has been recently identified, and has been designated as an attractive candidate antigen for cancer testis. In the present study, the expression profile of SPACA5/Spaca5 was analyzed in spermatogenesis and TCC of the bladder using diverse molecular and cellular biology methods...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27771326/identification-of-a-tspy-co-expression-network-associated-with-dna-hypomethylation-and-tumor-gene-expression-in-somatic-cancers
#6
Tatsuo Kido, Yun-Fai Chris Lau
Testis specific protein Y-encoded (TSPY) is a Y-located proto-oncogene predominantly expressed in normal male germ cells and various types of germ cell tumor. Significantly, TSPY is frequently expressed in somatic cancers including liver cancer but not in adjacent normal tissues, suggesting that ectopic TSPY expression could be associated with oncogenesis in non-germ cell cancers. Various studies demonstrated that TSPY expression promotes growth and proliferation in cancer cells; however, its relationship to other oncogenic events in TSPY-positive cancers remains unknown...
September 17, 2016: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/27579401/adult-presentation-of-ectopic-vas-deferens-with-dysplastic-kidney
#7
Yusuf Saifee, Pranjal Modi
A 24-year-old male presented with voiding lower urinary tract symptoms. On evaluation, the patient was found to have midbulbar urethral stricture and right dysplastic pelvic kidney with right vesicoureteral reflux. A micturating cystourethrogram (MCUG) shows opacification of the right vas deferens along the entire course till the testis. The patient underwent end-to-end urethroplasty. But soon the patient presented with urinary tract infection (UTI) and epididymorchitis in the follow-up period. The patient was explored laparoscopically to remove dysplastic kidney and ectopic vas deferens...
2016: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/27579208/pantaloon-hernia-obstructed-indirect-component-and-direct-component-with-cryptorchidism
#8
Mohan Kumar Kariappa, Vivek Harihar, Ashwini Rajareddy Kothudum, Vivekanand Kedarlingayya Hiremath
Cryptorchidism is a condition in which one or both testes have not passed down into the scrotal sac. It is categorized as true undescended testis in which testes are present in the normal path of descent, and as ectopic testis, in which testes are present at abnormal site. Common complications of cryptorchidism are testicular torsion, subfertility, inguinal hernia, and testicular cancer. Here we present a rare case of pantaloon hernia of obstructed indirect component and direct component with cryptorchidism...
2016: Case Reports in Surgery
https://www.readbyqxmd.com/read/27478577/triorchidism-presenting-as-undescended-testis-in-a-case-of-indirect-inguinal-hernia
#9
Ajay H Bhandarwar, Saurabh S Gandhi, Chintan B Patel, Amol N Wagh, Virendra Gawli, Nimesh A Jain
Triorchidism is the commonest variety of polyorchidism, an entity with more than two testis is an extremely rare congenital anomaly of the testis. Although excision of the abnormal testis is a safer alternative proposed, recent literature suggests more conservative approach in normal testes with watchful regular follow up to screen for malignancy. This case presented as a left inguinal swelling diagnosed as indirect left inguinal hernia. The left side testis was of smaller size (about half) with normal sperm count, morphology and motility...
April 26, 2016: Clinics and Practice
https://www.readbyqxmd.com/read/27411886/testicular-ectopia-in-the-anterior-abdominal-wall-of-a-neonate-a-rare-site-of-ectopic-testis
#10
Salman Atiq Siddiqui, Tamer Ibrahim Marei, Ghada Al-Makhaita
BACKGROUND Abnormal testicular descent can either be undescended or, less commonly, ectopic. Most undescended testes complete the course of descent by the first year of life only if these remain in the normal path of descent. The deviation of the testis may occur to an ectopic location during the transinguinal phase. Of the known ectopic sites, the anterior abdominal wall is the rarest site of testicular ectopia and to our knowledge only 3 cases of this nature have been reported in the available literature to date...
July 14, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27293058/decreased-expression-of-bioinformatically-predicted-piwil2-targetting-micrornas-mir-1267-and-mir-2276-in-breast-cancer
#11
S Torkashvand, Z Damavandi, B Mirzaei, M Tavallaei, M Vasei, Seyed Javad Mowla
PURPOSE: Human Piwil2, a member of Piwi subfamily of Argonaute proteins, is primarily expressed in testis, where it regulates self-renewal of germ cells. However, its ectopic expression has been reported with several tumors, including breast cancer. The upregulation of piwil2 in various stages of breast cancer suggested its suitability as a novel tumor biomarker. Considering the vital role of microRNAs (miRNAs) in regulating the expression of most human genes, we hypothesized a concomitant downregulation of the bioinformatically-predicted piwil2-targetting microRNAs in breast cancer...
June 2016: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/27292789/ectopic-synthesis-of-vitellogenin-in-testis-and-epididymis-of-estrogen-treated-lizard-podarcis-sicula
#12
Mariailaria Verderame, Ermelinda Limatola, Rosaria Scudiero
In oviparous vertebrates, vitellogenin (VTG) is the major yolk precursor synthesized in the liver of sexually mature females during the reproductive period. In males, the VTG gene is silent, but it may be activated by estradiol-17β (E2) or estrogen-like substances. Until now, extra-hepatic expression and synthesis of VTG after estrogen exposure has been reported only for aquatic vertebrates. This study demonstrates the ability of testis and epididymis of the terrestrial oviparous lacertid Podarcis sicula to synthesize VTG following E2 exposure...
September 1, 2016: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/27283990/sox2-is-essential-for-in-vivo-reprogramming-of-seminoma-like-tcam-2-cells-to-an-embryonal-carcinoma-like-fate
#13
Daniel Nettersheim, Alena Heimsoeth, Sina Jostes, Simon Schneider, Martin Fellermeyer, Andrea Hofmann, Hubert Schorle
Type II germ cell cancers (GCC) are divided into seminomas, which are highly similar to primordial germ cells and embryonal carcinomas (EC), often described as malignant counterparts to embryonic stem cells.Previously, we demonstrated that the development of GCCs is a highly plastic process and strongly influenced by the microenvironment. While orthotopic transplantation into the testis promotes seminomatous growth of the seminoma-like cell line TCam-2, ectopic xenotransplantation into the flank initiates reprogramming into an EC-like fate...
July 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27281616/ches-1-like-the-ortholog-of-a-non-obstructive-azoospermia-associated-gene-blocks-germline-stem-cell-differentiation-by-upregulating-dpp-expression-in-drosophila-testis
#14
Jun Yu, Yujuan Liu, Xiang Lan, Hao Wu, Yang Wen, Zuomin Zhou, Zhibin Hu, Jiahao Sha, Xuejiang Guo, Chao Tong
Azoospermia is a high risk factor for testicular germ cell tumors, whose underlying molecular mechanisms remain unknown. In a genome-wide association study to identify novel loci associated with human non-obstructive azoospermia (NOA), we uncovered a single nucleotide polymorphism (rs1887102, P=2.60 ×10-7) in a human gene FOXN3. FOXN3 is an evolutionarily conserved gene. We used Drosophila melanogaster as a model system to test whether CHES-1-like, the Drosophila FOXN3 ortholog, is required for male fertility...
July 5, 2016: Oncotarget
https://www.readbyqxmd.com/read/27275820/ectopic-expression-of-testis-germ-cell-proteins-in-cancer-and-its-potential-role-in-genomic-instability
#15
REVIEW
Aaraby Yoheswaran Nielsen, Morten Frier Gjerstorff
Genomic instability is a hallmark of human cancer and an enabling factor for the genetic alterations that drive cancer development. The processes involved in genomic instability resemble those of meiosis, where genetic material is interchanged between homologous chromosomes. In most types of human cancer, epigenetic changes, including hypomethylation of gene promoters, lead to the ectopic expression of a large number of proteins normally restricted to the germ cells of the testis. Due to the similarities between meiosis and genomic instability, it has been proposed that activation of meiotic programs may drive genomic instability in cancer cells...
June 6, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27249646/apobec4-enhances-the-replication-of-hiv-1
#16
Daniela Marino, Mario Perković, Anika Hain, Ananda A Jaguva Vasudevan, Henning Hofmann, Kay-Martin Hanschmann, Michael D Mühlebach, Gerald G Schumann, Renate König, Klaus Cichutek, Dieter Häussinger, Carsten Münk
APOBEC4 (A4) is a member of the AID/APOBEC family of cytidine deaminases. In this study we found a high mRNA expression of A4 in human testis. In contrast, there were only low levels of A4 mRNA detectable in 293T, HeLa, Jurkat or A3.01 cells. Ectopic expression of A4 in HeLa cells resulted in mostly cytoplasmic localization of the protein. To test whether A4 has antiviral activity similar to that of proteins of the APOBEC3 (A3) subfamily, A4 was co-expressed in 293T cells with wild type HIV-1 and HIV-1 luciferase reporter viruses...
2016: PloS One
https://www.readbyqxmd.com/read/27044511/r-spondin1-signaling-pathway-is-required-for-both-the-ovarian-and-testicular-development-in-a-teleosts-nile-tilapia-oreochromis-niloticus
#17
Limin Wu, Peng Yang, Feng Luo, Deshou Wang, Linyan Zhou
The furin-domain-containing peptide R-spondin 1 (RSPO1) has recently emerged as an important regulator of ovarian development, upregulating the WNT/β-catenin pathway to oppose testis formation in mammals. However, little information has been reported on the Rspo1 signaling pathway in teleosts. In this study, Rspo1 was isolated from the gonads of the Nile tilapia, Oreochromis niloticus. An in situ hybridization analysis demonstrated that Rspo1 is expressed in the germ cells of the ovary and the testis. An ontogenic analysis demonstrated that Rspo1 expression is upregulated just before meiotic initiation in both the ovary and testis during the early developmental stages of the tilapia...
May 1, 2016: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/27044426/serine-threonine-kinases-31-stk31-may-be-a-novel-cellular-target-gene-for-the-hpv16-oncogene-e7-with-potential-as-a-dna-hypomethylation-biomarker-in-cervical-cancer
#18
Fu-Fen Yin, Ning Wang, Xiao-Ning Bi, Xiao Yu, Xiao-Hui Xu, You-Lin Wang, Cheng-Quan Zhao, Bing Luo, Yan-Kui Wang
BACKGROUND: Cervical cancer (CC) is a leading cause of mortality in females, especially in developing countries. The two viral oncoproteins E6 and E7 mediate the oncogenic activities of high-risk human papillomavirus (hrHPV), and hrHPV, especially HPV16 or/and HPV18 (HPV16/18) play critical roles in CC through different pathways. STK31 gene of which the expression has been proven to be regulated by the methylation status of its promoter, is one of the novel cancer/testis (CT) genes and plays important roles in human cancers...
April 5, 2016: Virology Journal
https://www.readbyqxmd.com/read/26982671/crossed-testicular-ectopia
#19
A Pradhan, O B Panta, D B Karki, G Gurung
Crossed testicular ectopia also known as transverse testicular ectopia is a rare anomaly of the testis which is ectopically located in contralateral hemiscrotum with absent testis in the ipsilateral hemiscrotum. Most case are incidentally discovered intraopeartively during operation of inguinal hernia and few case reports are available which have reported preoperative diagnosis of crossed testicular ectopia. We report a case of crossed testicular ectopia in 12 year old boy who presented with right undescended testis diagnosed preoperative on Ultrasound and Magnetic Resonance Imaging as crossed testicular ectopia...
July 2014: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/26959739/androgen-receptor-in-sertoli-cells-regulates-dna-double-strand-break-repair-and-chromosomal-synapsis-of-spermatocytes-partially-through-intercellular-egf-egfr-signaling
#20
Su-Ren Chen, Xiao-Xia Hao, Yan Zhang, Shou-Long Deng, Zhi-Peng Wang, Yu-Qian Wang, Xiu-Xia Wang, Yi-Xun Liu
Spermatogenesis does not progress beyond the pachytene stages of meiosis in Sertoli cell-specific AR knockout (SCARKO) mice. However, further evidence of meiotic arrest and underlying paracrine signals in SCARKO testes is still lacking. We utilized co-immunostaining of meiotic surface spreads to examine the key events during meiotic prophase I. SCARKO spermatocytes exhibited a failure in chromosomal synapsis observed by SCP1/SCP3 double-staining and CREST foci quantification. In addition, DNA double-strand breaks (DSBs) were formed but were not repaired in the mutant spermatocytes, as revealed by γ-H2AX staining and DNA-dependent protein kinase (DNA-PK) activity examination...
April 5, 2016: Oncotarget
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