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Sample records for testicular dysgenesis syndrome

  1. Testicular dysgenesis syndrome

    DEFF Research Database (Denmark)

    Skakkebaek, N E; Rajpert-De Meyts, E; Main, K M

    2001-01-01

    summarizes existing evidence supporting a new concept that poor semen quality, testis cancer, undescended testis and hypospadias are symptoms of one underlying entity, the testicular dysgenesis syndrome (TDS), which may be increasingly common due to adverse environmental influences. Experimental...

  2. Testicular dysgenesis syndrome: possible role of endocrine disrupters

    DEFF Research Database (Denmark)

    Bay, Katrine; Asklund, Camilla; Skakkebaek, Niels E

    2006-01-01

    The testicular dysgenesis syndrome (TDS) hypothesis proposes that the four conditions cryptorchidism, hypospadias, impaired spermatogenesis and testis cancer may all be manifestations of disturbed prenatal testicular development. The TDS hypothesis is based on epidemiological, clinical and molecu......The testicular dysgenesis syndrome (TDS) hypothesis proposes that the four conditions cryptorchidism, hypospadias, impaired spermatogenesis and testis cancer may all be manifestations of disturbed prenatal testicular development. The TDS hypothesis is based on epidemiological, clinical...

  3. Testicular dysgenesis syndrome: mechanistic insights and potential new downstream effects

    DEFF Research Database (Denmark)

    Sharpe, R.M.; Skakkebæk, Niels Erik

    2008-01-01

    Reproductive disorders of newborn (cryptorchidism, hypospadias) and young adult males (low sperm counts, testicular germ cell cancer) are common and/or increasing in incidence. It has been hypothesized that these disorders may comprise a testicular dysgenesis syndrome (TDS) with a common origin...

  4. Testicular dysgenesis syndrome and Leydig cell function

    DEFF Research Database (Denmark)

    Joensen, Ulla Nordström; Jørgensen, Niels; Rajpert-De Meyts, Ewa

    2008-01-01

    originating in early foetal life. TDS comprises various aspects of impaired gonadal development and function, including testicular cancer. A growing body of evidence, including animal models and research in human beings, points to lifestyle factors and endocrine disrupters as risk factors for TDS. We present...

  5. Cryptorchidism as part of the testicular dysgenesis syndrome: the environmental connection

    DEFF Research Database (Denmark)

    Main, K M; Skakkebaek, N E; Toppari, J

    2009-01-01

    Cryptorchidism is part of the testicular dysgenesis syndrome (TDS), which includes other male reproductive disorders such as hypospadias, testis cancer and reduced semen quality. These diseases appear to be linked by common pathogenic mechanisms, interfering with normal fetal testis development...

  6. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation

    DEFF Research Database (Denmark)

    Dalgaard, Marlene D; Weinhold, Nils; Edsgard, Stefan Daniel

    2012-01-01

    Background Testicular dysgenesis syndrome (TDS) is a common disease that links testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. The incidence of these disorders has increased over the last few decades, and test...

  7. Leydig cell clustering and Reinke crystal distribution in relation to hormonal function in adult patients with testicular dysgenesis syndrome (TDS) including cryptorchidism

    DEFF Research Database (Denmark)

    Soerensen, Rikke R; Johannsen, Trine H; Skakkebaek, Niels E

    2016-01-01

    OBJECTIVE: Testicular dysgenesis syndrome (TDS) comprises testicular germ cell cancer, cryptorchidism and some cases of male infertility and hypospadias, which can be linked to impairment of intrauterine gonadal development. Among histological signs of TDS, large Leydig cell (LC) clusters (micron...

  8. Testicular dysgenesis syndrome: foetal origin of adult reproductive problems

    DEFF Research Database (Denmark)

    Wohlfahrt-Veje, Christine; Main, Katharina M; Skakkebaek, Niels Erik

    2009-01-01

    is that maternal exposure to endocrine disrupting chemicals may contribute to the pathogenesis of TDS. Animal experiments have shown that all TDS symptoms, except testicular cancer, can be induced by foetal exposure to anti-androgenic chemicals. However, the cause of TDS in humans remains to be determined....

  9. Testicular dysgenesis syndrome comprises some but not all cases of hypospadias and impaired spermatogenesis

    DEFF Research Database (Denmark)

    Jørgensen, N; Rajpert-De Meyts, Ewa; Main, K M

    2010-01-01

    In 2001, when the testicular dysgenesis syndrome (TDS) concept was proposed, it suggested that impaired development of foetal testes could lead to increased risks of cryptorchidism, hypospadias, decreased spermatogenesis or testis cancer. The TDS concept links the pathogenesis of the four disorders...... are most likely caused by TDS. However, the frequency of the syndrome in the general population and to what extent poor semen quality and hypospadias are actually biologically related through a foetal mechanism remain unresolved. Hypospadias and impaired spermatogenesis can be classified as TDS if combined...... with cryptorchidism or TGCC. By contrast, recent studies demonstrated that among men with isolated hypospadias, only a fraction of cases are linked to TDS. There is no doubt that TDS contributes to impaired semen quality. This is most obvious for cases with visible dysgenetic features in testis histology...

  10. Association between testicular dysgenesis syndrome (TDS) and testicular neoplasia: evidence from 20 adult patients with signs of maldevelopment of the testis

    DEFF Research Database (Denmark)

    Skakkebæk, Niels Erik; Holm, Mette; Hoei-Hansen, Christina

    2003-01-01

    Based on a well established association between testicular cancer and undescended testis and more recent publications on epidemiological links between these disorders and male infertility, we proposed the existence of a testicular dysgenesis syndrome (TDS). In most cases TDS presents with impaired...... testicular biopsies derived from patients with infertility, hypospadias and undescended testis. We searched for histological signs of testicular dysgenesis: microliths, Sertoli-cell-only tubules, immature seminiferous tubules with undifferentiated Sertoli cells, and tubules containing carcinoma in situ (CIS...... of semen sampling and testicular histology. In conclusion, our study of 20 patients with various reproductive abnormalities provided evidence that TDS is a real clinical entity. We speculate that most of these abnormalities are caused by adverse environmental effects rather than specific gene mutations....

  11. Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): environmental connection

    DEFF Research Database (Denmark)

    Toppari, Jorma; Virtanen, Helena E; Main, Katharina M

    2010-01-01

    Cryptorchidism and hypospadias are common genital birth defects that affect 2-9% and 0.2-1% of male newborns, respectively. The incidence of both defects shows large geographic variation, and in several countries increasing trends have been reported. The conditions share many risk factors......, and they are also interlinked to the risk of testis cancer and poor semen quality. Testicular Dysgenesis Syndrome (TDS) may underlie many cases of all these male reproductive health problems. Genetic defects in androgen production or action can cause both cryptorchidism and hypospadias, but these are not common....... A monogenic reason for cryptorchidism or hypospadias has been identified only in a small proportion of all cases. Environmental effects appear to play a major role in TDS. Exposure to several persistent chemicals has been found to be associated with the risk of cryptorchidism, and exposure to anti...

  12. Identification of a Novel Androgen Receptor Mutation in a Family With Multiple Components Compatible With the Testicular Dysgenesis Syndrome

    DEFF Research Database (Denmark)

    Lottrup, Grete; Jørgensen, Anne; Nielsen, John E.

    2013-01-01

    Context: Androgen signaling via the androgen receptor (AR) is essential for normal testis development and male reproductive functions. We describe a rare family with 3 males affected by a mild disorder of sex determination compatible with testicular dysgenesis syndrome (TDS), including subfertility.......Participants: The proband, his first cousin, and a nephew underwent a detailed clinical investigation including genetic tests, whereas four female members of the family were tested for the specific AR mutation.Results: A novel AR mutation, c.2214T>G;p.Ile738Met, was identified in the affected family members. Functional...... showed features consistent with insufficient testis development and TDS.Conclusion: The presence of all hallmarks of TDS, including germ cell cancer, in a family with a novel AR mutation causing a partial decrease in AR function is in line with the concept that reduced androgen signaling may contribute...

  13. Testicular dysgenesis syndrome and the origin of carcinoma in situ testis

    DEFF Research Database (Denmark)

    Sonne, Si Brask; Kristensen, David Møbjerg; Novotny, Guy W

    2008-01-01

    the development of CIS cells, is a result of disturbed signalling between nurse cells and germ cells that allow embryonic germ cells to survive in the pre-pubertal and adult testis. The post-pubertal proliferation of CIS cells combined with aberrant signalling then leads to an accumulation of genetic changes...... foetus, but the genetic background may also play a role. The morphological similarity of carcinoma in situ (CIS) cells (the precursor of the majority of invasive testicular cancers) with primordial germ cells and gonocytes, and overlap in expression of protein markers suggests an origin of CIS from...

  14. A rare diagnosis: testicular dysgenesis with carcinoma in situ detected in a patient with ultrasonic microlithiasis

    DEFF Research Database (Denmark)

    Hoei-Hansen, Christina E; Sommer, Peter; Rajpert-De Meyts, Ewa

    2005-01-01

    of the testicular dysgenesis syndrome (TDS): a dysgenetic left testicle with CIS, a mild left-sided cryptorchidism (high positioned scrotal hypotrophic testis) and a slightly reduced semen quality. Therefore, it should be kept in mind that a patient with one TDS symptom may harbour the other, even CIS or testicular...... cancer. Accordingly, patients with one TDS symptom ought to be examined for the presence of the others, and if more that one is present, extra concern is warranted....

  15. A rare diagnosis: testicular dysgenesis with carcinoma in situ detected in a patient with ultrasonic microlithiasis

    DEFF Research Database (Denmark)

    Hoei-Hansen, Christina E; Sommer, Peter; Rajpert-De Meyts, Ewa

    2005-01-01

    -year-old man presenting with mild scrotal pain and ultrasonic testicular microlithiasis. Knowledge of the association of ultrasound and CIS is important to diagnose patients at the stage prior to development of an overt germ cell tumor. The patient had three of four disorders considered symptoms...... of the testicular dysgenesis syndrome (TDS): a dysgenetic left testicle with CIS, a mild left-sided cryptorchidism (high positioned scrotal hypotrophic testis) and a slightly reduced semen quality. Therefore, it should be kept in mind that a patient with one TDS symptom may harbour the other, even CIS or testicular...

  16. Do environmental factors play a role in the aetiology of carcinoma in situ testis and the testicular dysgenesis syndrome?

    DEFF Research Database (Denmark)

    Sonne, S B; Hoei-Hansen, C E; Fisher, J S

    2004-01-01

    development, and may be provoked by external factors such as endocrine disruptors in addition to genetic predisposition. Testicular germ cell tumours (TGCTs), considered the most severe symptom of TDS, have increased in incidence during the last 60 years, to become the most common malignancy in young...... (DBP) suggesting that ubiquitously present environmental endocrine disruptors may play a role in the aetiology of human TDS. So far, no animal model has been able to mimick all the symptoms of TDS including TGCTs although CIS-like cells have been found in a spontaneous testicular neoplasm in a rabbit....

  17. Histological evidence of testicular dysgenesis in contralateral biopsies from 218 patients with testicular germ cell cancer

    DEFF Research Database (Denmark)

    Hoei-Hansen, Christina E; Holm, Mette; Rajpert-De Meyts, Ewa

    2003-01-01

    dysgenesis, microscopic dysgenetic features were quantified in contralateral testicular biopsies in patients with a testicular germ cell tumour. Two hundred and eighty consecutive contralateral testicular biopsies from Danish patients with testicular cancer diagnosed in 1998-2001 were evaluated...... retrospectively. Two hundred and eighteen specimens were subsequently included in this study, after 63 patients who did not meet inclusion criteria had to be excluded. The presence of carcinoma in situ (which is believed to originate from transformed gonocytes) was detected in 8.7% of biopsies. The incidence...... patients, areas with immature and morphologically distorted tubules were also noted. Spermatogenesis was qualitatively normal in 51.4%, whereas 11.5% had very poor or absent spermatogenesis. It is concluded that microscopic testicular dysgenesis is a frequent feature in contralateral biopsies from patients...

  18. Histological evidence of testicular dysgenesis in contralateral biopsies from 218 patients with testicular germ cell cancer

    DEFF Research Database (Denmark)

    Hoei-Hansen, Christina E; Holm, Mette; Rajpert-De Meyts, Ewa

    2003-01-01

    patients, areas with immature and morphologically distorted tubules were also noted. Spermatogenesis was qualitatively normal in 51.4%, whereas 11.5% had very poor or absent spermatogenesis. It is concluded that microscopic testicular dysgenesis is a frequent feature in contralateral biopsies from patients...

  19. Testicular dysgenesis syndrome and the estrogen hypothesis: a quantitative meta-analysis A síndrome da disgenesia testicular e a hipótese do estrogênio: uma meta-análise quantitativa

    Directory of Open Access Journals (Sweden)

    Olwenn Martin

    2008-10-01

    Full Text Available Male reproductive tract abnormalities such as hypospadias and cryptorchidism, and testicular cancer have been proposed to comprise a common syndrome together with impaired spermatogenesis with a common etiology resulting from the disruption of gonadal development during fetal life, the testicular dysgenesis syndrome (TDS. The only quantitative summary estimate of the link between prenatal exposure to estrogenic agents and testicular cancer was published over 10 years ago; other reviews of the link between estrogenic compounds, other than the potent pharmaceutical estrogen diethylstilbestrol (DES, and TDS end points have remained inconclusive. We conducted a quantitative meta-analysis of the association between the end points related to TDS and prenatal exposure to estrogenic agents. Inclusion in this analysis was based on mechanistic criteria, and the plausibility of an estrogen receptor (ER-α-mediated mode of action was specifically explored. Eight studies were included, investigating the etiology of hypospadias and/or cryptorchidism that had not been identified in previous systematic reviews. Four additional studies of pharmaceutical estrogens yielded a statistically significant updated summary estimate for testicular cancer. Results of the subset analyses point to the existence of unidentified sources of heterogeneity between studies or within the study population.Sugeriu-se que anomalias do trato reprodutivo masculino como hipospádia e criptorquidismo, assim como o câncer de testículo, componham uma síndrome comum com diminuição da espermatogênese, e de etiologia comum, a interrupção do desenvolvimento gonadal na fase fetal, a síndrome de disgenesia testicular (SDT. O único levantamento quantitativo da relação entre exposição pré-natal a agentes estrogênicos e câncer de testículo data de mais de dez anos; outras revisões da relação entre compostos estrogênicos diferentes do potente estrogênio sint

  20. Gonadal dysgenesis in del (18p) syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Telvi, L.; Ion, A.; Fouquet, F. [Hospital Saint Vincent de Paul, Paris (France)] [and others

    1995-07-17

    We report on a girl with syndromal gonadal dysgenesis and a de novo del (18p). Genetic factors controlling gonadal development are located not only on the X chromosome, but also on autosomes. The present case suggests that one of these genes is situated on 18p. We conclude that patients with del (18p) syndrome should be evaluated for gonadal dysgenesis. 16 refs., 3 figs.

  1. What is new in cryptorchidism and hypospadias--a critical review on the testicular dysgenesis hypothesis

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; McLachlan, Robert; Cortes, Dina

    2010-01-01

    It has been hypothesized that poor semen quality, testis cancer, undescended testis, and hypospadias are symptoms of one underlying entity--the testicular dysgenesis syndrome--leading to increasing male fertility impairment. Though testicular cancer has increased in many Western countries during...... the past 40 years, hypospadias rates have not changed with certainty over the same period. Also, recent studies demonstrate that sperm output may have declined in certain areas of Europe but is probably not declining across the globe as indicated by American studies. However, at the same time......, there is increasing recognition of male infertility related to obesity and smoking. There is no certain evidence that the rates of undescended testes have been increasing with time during the last 50 years. In more than 95% of the cases, hypospadias is not associated with cryptorchidism, suggesting major differences...

  2. Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome: a case report

    Directory of Open Access Journals (Sweden)

    He Anguang

    2011-09-01

    Full Text Available Abstract Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.

  3. Inutero exposure to diisononyl phthalate caused testicular dysgenesis of rat fetal testis.

    Science.gov (United States)

    Li, Linxi; Bu, Tiao; Su, Huina; Chen, Zhichuan; Liang, Yuyuan; Zhang, Gaolong; Zhu, Danyan; Shan, Yuanyuan; Xu, Renai; Hu, Yuanyuan; Li, Junwei; Hu, Guoxin; Lian, Qingquan; Ge, Ren-Shan

    2015-01-22

    Diisononyl phthalate (DINP) is a synthetic material that has been widely used as a substitute for other plasticizers prohibited due to reproductive toxicity in consumer products. Some phthalates have been associated with testicular dysgenesis syndrome in male fetus when female pregnant dams were exposed to them. The present study investigated effects of DINP on fetal Leydig cell function and testis development. Female pregnant Sprague Dawley rats received control vehicle (corn oil) or DINP (10, 100, 500, and 1000 mg/kg) by oral gavage from gestational day (GD) 12 to 21. At GD 21.5, testicular testosterone production, fetal Leydig cell numbers and distribution, testicular gene and protein expression levels were examined. DINP showed dose-dependent increase of fetal Leydig cell aggregation with the low observed adverse-effect level (LOAEL) of 10 mg/kg and multinucleated gonocyte with LOAEL of 100 mg/kg. At 10 mg/kg, DINP also significantly increased fetal Leydig cell size, but inhibited insulin-like 3 and 3β-hydroxysteroid dehydrogenase gene expression and protein levels. DINP inhibited testicular testosterone levels at 1000 mg/kg. The results indicate that in utero exposure to DINP affects the expression levels of some fetal Leydig cell steroidogenic genes, gonocyte multinucleation and Leydig cell aggregation. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  4. Involvement of epigenetic modifiers in the pathogenesis of testicular dysgenesis and germ cell cancer

    DEFF Research Database (Denmark)

    Lawaetz, Andreas C.; Almstrup, Kristian

    2015-01-01

    Testicular germ cell cancer manifests mainly in young adults as a seminoma or non-seminoma. The solid tumors are preceded by the presence of a non-invasive precursor cell, the carcinoma in situ cell (CIS), which shows great similarity to fetal germ cells. It is therefore hypothesized that the CIS...... cell is a fetal germ cell that has been arrested during development due to testicular dysgenesis. CIS cells retain a fetal and open chromatin structure, and recently several epigenetic modifiers have been suggested to be involved in testicular dysgenesis in mice. We here review the possible involvement...... of epigenetic modifiers with a focus on jumonji C enzymes in the development of testicular dysgenesis and germ cell cancer in men....

  5. Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development.

    Science.gov (United States)

    Jørgensen, Anne; Lindhardt Johansen, Marie; Juul, Anders; Skakkebaek, Niels E; Main, Katharina M; Rajpert-De Meyts, Ewa

    2015-09-01

    Development of human gonads is a sex-dimorphic process which evolved to produce sex-specific types of germ cells. The process of gonadal sex differentiation is directed by the action of the somatic cells and ultimately results in germ cells differentiating to become functional gametes through spermatogenesis or oogenesis. This tightly controlled process depends on the proper sequential expression of many genes and signalling pathways. Disturbances of this process can be manifested as a large spectrum of disorders, ranging from severe disorders of sex development (DSD) to - in the genetic male - mild reproductive problems within the testicular dysgenesis syndrome (TDS), with large overlap between the syndromes. These disorders carry an increased but variable risk of germ cell neoplasia. In this review, we discuss the pathogenesis of germ cell neoplasia associated with gonadal dysgenesis, especially in individuals with 46,XY DSD. We summarise knowledge concerning development and sex differentiation of human gonads, with focus on sex-dimorphic steps of germ cell maturation, including meiosis. We also briefly outline the histopathology of germ cell neoplasia in situ (GCNIS) and gonadoblastoma (GDB), which are essentially the same precursor lesion but with different morphological structure dependent upon the masculinisation of the somatic niche. To assess the risk of germ cell neoplasia in different types of DSD, we have performed a PubMed search and provide here a synthesis of the evidence from studies published since 2006. We present a model for pathogenesis of GCNIS/GDB in TDS/DSD, with the risk of malignancy determined by the presence of the testis-inducing Y chromosome and the degree of masculinisation. The associations between phenotype and the risk of neoplasia are likely further modulated in each individual by the constellation of the gene polymorphisms and environmental factors. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. Testicular cancer trends as 'whistle blowers' of testicular developmental problems in populations

    DEFF Research Database (Denmark)

    Skakkebaek, N E; Rajpert-De Meyts, E; Jørgensen, N

    2007-01-01

    countries, which shows strong associations between testicular cancer, undescended testis, hypospadias, poor testicular development and function, and male infertility. These studies have led us to suggest the existence of a testicular dysgenesis syndrome (TDS), of which TGCC, undescended testis, hypospadias...

  7. Less advanced testicular dysgenesis is associated by a higher prevalence of germ cell neoplasia.

    Science.gov (United States)

    Guminska, A; Oszukowska, E; Kuzanski, W; Sosnowski, M; Wolski, J K; Walczak-Jedrzejowska, R; Marchlewska, K; Niedzielski, J; Kula, K; Slowikowska-Hilczer, J

    2010-02-01

    There is a theory that the more evident clinical signs of testicular dysgenesis, the more frequent the neoplastic lesions are. The aim of this study was to relate the incidence of testicular germ cell neoplastic lesions (overt germ cell tumours--GCT or testicular carcinoma in situ) to the intensity of testicular organogenesis disturbances (dysgenesis). Biopsies were taken from 154 testes of the following patients: 23 patients with GCT in the contralateral gonad (CGCT), 41 patients with undescended testes operated in childhood (UDT), 90 with azoo-/oligozoospermia (A/O) diagnosed because of infertility. Assessment of seminiferous epithelium, number of Leydig cells, areal fraction of intertubular space (IS), morphometric analysis of seminiferous tubules diameter and thickness of tubular wall were performed. Monoclonal antibodies against placental like alkaline phosphatase and cytokeratin 18 were applied. Germ cell neoplastic lesions were detected in 7.1% of testes and were associated with disturbed spermatogenesis. Among testes with disturbed spermatogenesis they were found the most frequently in CGCT (22.2% vs. 11.1% in UDT and 3.8% in A/O), where spermatogenesis had the highest score (5.7 +/- 3.8 points vs. 4.2 +/- 2.7 in UDT and 4.6 +/- 2.9 in A/O). In CGCT, signs of testicular dysgenesis were less advanced: the highest tubular diameter was 164.4 +/- 32.3 microm vs. 163.5 +/- 28.6 in UDT and 161.4 +/- 31.5 in A/O, the lowest thickness of tubular wall was 8.9 +/- 3.2 microm vs. 10.2 +/- 3.6 in UDT and 10.2 +/- 3.2 in A/O, lowest IS was 36.9 +/- 14.9% vs. 47.9 +/- 18.0 in UDT and 46.5 +/- 18.5 in A/O, and the lowest percentage of tubules with immature Sertoli cells was 0.1 +/- 0.4% vs. 4.9 +/- 7.0 in UDT and 5.2 +/- 9.7 in A/O. Results indicate that neoplastic lesions appear only in testes with disturbed spermatogenesis. Worse condition of spermatogenesis is associated by the presence of other dysgenetic features, but neoplastic lesions appear more frequently in

  8. Testicular microlithiasis and testicular cancer

    DEFF Research Database (Denmark)

    Pedersen, Malene Roland; Rafaelsen, Søren Rafael; Møller, Henrik

    2016-01-01

    In total, 282 abstracts in were identified. Based on title and abstract the eligibility was assessed and 31 studies were included. Five conditions in relation to TML and testicular cancer emerged: Down syndrome, McCune–Albright syndrome, cryptorchidism, infertility and familial disposition of testicular...... dysgenesis syndrome....

  9. Genetics Home Reference: sudden infant death with dysgenesis of the testes syndrome

    Science.gov (United States)

    ... SIDDT Sudden infant death with dysgenesis of the testes syndrome Printable PDF Open All Close All Enable ... Description Sudden infant death with dysgenesis of the testes syndrome ( SIDDT ) is a rare condition that is ...

  10. 28 gonadal dysgenesis, turner's syndrome and phenotype in the ...

    African Journals Online (AJOL)

    1971-01-09

    Jan 9, 1971 ... GONADAL DYSGENESIS, TURNER'S SYNDROME AND PHENOTYPE IN THE. SOUTH AFRICAN BANTU*. H. J. GRACE, Genetics Department, Natal Instiiute of Immunology, Durban. The South African population is composed almost entirely of four races, the negroid Bantu; white Caucasoids; Asia-.

  11. Testicular dysgenesis syndrome: possible role of endocrine disrupters

    DEFF Research Database (Denmark)

    Bay, Katrine; Asklund, Camilla; Skakkebaek, Niels E

    2006-01-01

    phthalates, and the different TDS components. However, for ethical reasons, evidence of a causal relationship between prenatal exposure and TDS is inherently difficult to establish in human studies, rendering the recently developed animal TDS model an important tool for investigating the pathogenesis of TDS...

  12. Persistent Mullerian Duct Syndrome with Transverse Testicular ...

    African Journals Online (AJOL)

    inguinal side. The opposite scrotum is empty. PMDS with. TTE is rare. We report a case of PMDS with TTE discovered during surgery for a right inguinal hernia in a 25-year-old male. Key words: Mullerian inhibiting factor, persistent. Mullerian duct syndrome, transverse testicular ectopia. Address for correspondence: Dr. P.

  13. Syndromic aspects of testicular carcinoma

    NARCIS (Netherlands)

    Lutke-Holzik, MF; Sijmons, RH; Sleijfer, DT; Sonneveld, DJA; Hoekstra-Weebers, JEHM; van Echten-Arends, J; Hoekstra, HJ

    2003-01-01

    BACKGROUND. In patients with hereditary or constitutional chromosomal anomalies, testicular carcinoma can develop sporadically or on the basis of an underlying hereditary genetic defect. Greater knowledge of these genetic defects would provide more insight into the molecular pathways that lead to

  14. A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.

    Science.gov (United States)

    Simioni, Milena; Lopes Monlleó, Isabella; Costa de Queiroz, Camila M; Fragoso Peixoto Gazzaneo, Ilanna; Lima do Nascimento, Diogo L; Luna de Omena Filho, Reinaldo; Santos da Cruz Piveta, Cristiane; Palandi de Mello, Maricilda; Gil-da-Silva-Lopes, Vera L

    2016-01-01

    This is the first molecular characterization of a female XY patient with an Xp duplication due to an X;22 translocation. Array CGH detected a copy number gain of ∼36 Mb in the Xp22.33p21.1 region involving 150 genes. Clinical and molecular studies described in the literature have suggested DAX1 duplication as the major cause responsible for a sex reversal phenotype. Additionally, the interaction between genes and their possible role in clinical features are presented to support the discussion on genotype-phenotype correlation in cases of syndromic XY gonadal dysgenesis. © 2016 S. Karger AG, Basel.

  15. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

    Directory of Open Access Journals (Sweden)

    Ritch Robert

    2004-06-01

    Full Text Available Abstract Background Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome patients include hydrocephalus, hearing loss, and ocular, craniofacial, skeletal, cardiac, and renal malformations. Molecular characterization of deletions can identify genes that are responsible for these phenotypes. Methods We report the clinical phenotype of seven patients with terminal deletions of chromosome 6p25 and compare them to previously reported patients. Molecular characterization of the deletions was performed using polymorphic marker analysis to determine the extents of the deletions in these seven 6p25 deletion syndrome patients. Results Our results, and previous data, show that ocular dysgenesis and hearing impairment are the two most highly penetrant phenotypes of the 6p25 deletion syndrome. While deletion of the forkhead box C1 gene (FOXC1 probably underlies the ocular dysgenesis, no gene in this region is known to be involved in hearing impairment. Conclusions Ocular dysgenesis and hearing impairment are the two most common phenotypes of 6p25 deletion syndrome. We conclude that a locus for dominant hearing loss is present at 6p25 and that this locus is restricted to a region distal to D6S1617. Molecular characterization of more 6p25 deletion patients will aid in refinement of this locus and the identification of a gene involved in dominant hearing loss.

  16. Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.

    Science.gov (United States)

    Engberg, Hedvig; Strandqvist, Anna; Nordenström, Anna; Butwicka, Agnieszka; Nordenskjöld, Agneta; Hirschberg, Angelica Lindén; Frisén, Louise

    2017-10-01

    Knowledge concerning mental health outcomes is important to optimize the health of individuals with disorders or differences of sex development (DSD). Thus, the aim of this study was to estimate if the prevalence of psychiatric morbidity in adult women diagnosed with complete androgen insensitivity syndrome (CAIS) or complete gonadal dysgenesis (46,XY GD and 46,XX GD) differs from that in women with premature ovarian insufficiency (POI) or age-matched population controls. This cross-sectional study was conducted at the Karolinska University Hospital, Stockholm, Sweden, and included 33 women with different DSDs: 20 CAIS, 6 46,XY GD, 7 46,XX GD, 21 women with POI and 61 population-derived controls. Psychiatric morbidity was assessed using the Mini International Neuropsychiatric Interview plus (MINI+). To complement the MINI+, three self-report questions were used to evaluate current and previous psychiatric history. Results are presented as p values and estimated risks (odds ratio [OR], 95% confidence intervals [CI]) of psychiatric conditions among women with CAIS or GD in comparison with women with POI and age-matched population-derived controls. Twenty-eight of the 33 women (85%) with CAIS or GD met the criteria for at least one psychiatric disorder according to the MINI+, with depression and anxiety disorders being most common. This was significantly higher compared with population controls (52%) (OR 5.1, 95% CI 1.7-14.9), but not compared to women with POI, who had a high frequency of psychiatric diagnoses (76%). The increased psychiatric morbidity in women with CAIS and GD highlights the need for clinical awareness of the psychiatric vulnerability in these patients. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  17. From gonocytes to testicular cancer

    DEFF Research Database (Denmark)

    Rajpert-de Meyts, Ewa; Hoei-Hansen, Christina E

    2007-01-01

    Testicular germ-cell tumors occur primarily in young individuals, and the tumors in this age group (seminomas or nonseminomas) are derived from a preinvasive precursor cell called carcinoma in situ (CIS) or intratubular germ-cell neoplasia. These tumors have been a growing problem, especially in ...... by genomic variation (polymorphisms), thus explaining the individual susceptibility and population-level differences in the incidence of testicular cancer.......Testicular germ-cell tumors occur primarily in young individuals, and the tumors in this age group (seminomas or nonseminomas) are derived from a preinvasive precursor cell called carcinoma in situ (CIS) or intratubular germ-cell neoplasia. These tumors have been a growing problem, especially...... after puberty. In most cases the arrest/delay of germ-cell differentiation is caused by testicular dysgenesis, a multifactorial and complex syndrome that has a broad spectrum of phenotypes ranging from moderate impairment of spermatogenesis to severe disorders of sexual development and differentiation...

  18. Primary testicular failure in Klinefelter's syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Andersson, Anna-Maria; Jørgensen, Niels

    2007-01-01

    The diagnosis of androgen deficiency is based on clinical features and confirmatory low serum testosterone levels. In early primary testicular failure, a rise in serum LH levels suggests inadequate androgen action for the individual's physiological requirements despite a serum testosterone level ...

  19. Testicular cancer in Down syndrome with spinal cord metastases

    Directory of Open Access Journals (Sweden)

    Turky Almouhissen

    2016-01-01

    Full Text Available A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis. The patient was discharged in a satisfactory condition. Sixteen days later, the patient presented again complaining of lower limb weakness. Magnetic resonance imaging of the spine showed metastatic lesions compressing the dorsal spine, and he underwent emergency surgical decompression. The histopathology of the metastatic lesions revealed a yolk sac subtype which was identical to his primary testicular tumor.

  20. Testicular cancer in Down syndrome with spinal cord metastases

    Science.gov (United States)

    Almouhissen, Turky; Badr, Hattan; AlMatrafi, Bassam; Alessa, Noor; Nassir, Anmar

    2016-01-01

    A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis. The patient was discharged in a satisfactory condition. Sixteen days later, the patient presented again complaining of lower limb weakness. Magnetic resonance imaging of the spine showed metastatic lesions compressing the dorsal spine, and he underwent emergency surgical decompression. The histopathology of the metastatic lesions revealed a yolk sac subtype which was identical to his primary testicular tumor. PMID:28058004

  1. Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): environmental connection

    DEFF Research Database (Denmark)

    Toppari, Jorma; Virtanen, Helena E; Main, Katharina M

    2010-01-01

    Cryptorchidism and hypospadias are common genital birth defects that affect 2-9% and 0.2-1% of male newborns, respectively. The incidence of both defects shows large geographic variation, and in several countries increasing trends have been reported. The conditions share many risk factors, and th...

  2. Experimentally induced testicular dysgenesis syndrome originates in the masculinization programming window

    DEFF Research Database (Denmark)

    van den Driesche, Sander; Kilcoyne, Karen R.; Wagner, Ida Wagner

    2017-01-01

    suppresses testosterone production by the fetal testis. We evaluated if induction of TDS via testosterone suppression is restricted to the "masculinization programming window" (MPW), as indicated by reduction in anogenital distance (AGD). We show that DBP suppresses fetal testosterone equally during...

  3. Testicular dysgenesis syndrome and the development and occurrence of male reproductive disorders

    DEFF Research Database (Denmark)

    Virtanen, H E; Rajpert-De Meyts, E; Main, K M

    2005-01-01

    . Although genetic abnormalities can cause these disorders, in the majority of cases, the reasons remain unclear. Adverse trends in the incidence of male reproductive disorders suggest that environmental and life style factors contribute to the problem. Endocrine disrupters are considered as prime candidates...

  4. Risk factors in past histories and familial episodes related to development of testicular germ cell tumor.

    Science.gov (United States)

    Kanto, Satoru; Hiramatsu, Masayoshi; Suzuki, Kenichi; Ishidoya, Shigeto; Saito, Hideo; Yamada, Shigeyuki; Satoh, Makoto; Saito, Seiichi; Fukuzaki, Atsushi; Arai, Yoichi

    2004-08-01

    A retrospective study was conducted to examine the host factors of 240 testicular germ cell tumor patients. This study was performed to address a new theory proposed by Skakkebaek called testicular dysgenesis syndrome which claims that cryptorchism, hypospadias, poor semen quality and testicular germ cell tumors are symptoms of an underlying testicular dysgenesis in uterus. The past health histories and familial episodes of 240 testicular germ cell tumor patients were examined. The past health histories included cryptorchism, hypospadias, infertility, atrophic testis and inguinal hernia. Of the 240 patients, 13 (5.4%) had a history of cryptorchism or orchidopexy. Two (0.8%) showed existence of hypospadias or had experienced urethroplasty. Among 129 married couples, 104 (80.6%) couples were fertile. Three (1.3%) patients developed testicular tumors after they were diagnosed as infertile or came to the hospital with the complaints of infertility. Four (1.7%) had contralateral atrophic testis. 19 (7.9%) had experienced inguinal herniorrhaphy before age 15. Three (1.3%) had testicular germ cell tumor patients among their family or relatives. The testicular germ cell tumor patients showed a considerable incidence of complications such as cryptorchism, hypospadias and incomplete closure of processus vaginalis. Cryptorchism, perinatal factors and familial factors could be risks for developing testicular germ cell tumors.

  5. Reproductive hormones and metabolic syndrome in 24 testicular cancer survivors and their biological brothers

    DEFF Research Database (Denmark)

    Bandak, M.; Jorgensen, N.; Juul, A.

    2017-01-01

    of luteinizing hormone and follicle-stimulating hormone were elevated (p ≤ 0.001), while total testosterone, free testosterone, inhibin B and anti-Müllerian hormone were lower (p ≤ 0.001) in testicular cancer survivors than in their biological brothers. The prevalence of metabolic syndrome was similar and apart......Testicular cancer survivors have impaired gonadal function and increased risk of metabolic syndrome when compared to healthy controls. However, because of the fetal etiology of testicular cancer, familial unrelated healthy men might not be an optimal control group. The objective of this study...... was to clarify if testicular cancer survivors have impaired gonadal function and increased risk of metabolic syndrome when compared to their biological brothers. A cross-sectional study of testicular cancer survivors (ClinicalTrials.gov number, NCT02240966) was conducted between 2014 and 2016. Of 158 testicular...

  6. Testicular microlithiasis and testicular cancer

    DEFF Research Database (Denmark)

    Pedersen, Malene Roland; Rafaelsen, Søren Rafael; Møller, Henrik

    2016-01-01

    Purpose To perform a systematic literature review to assess whether the occurrence of testicular microlithiasis (TML) in conjunction with other risk factors is associated with testicular cancer. Methods A systematic literature search was performed of original articles in English published 1998...... In total, 282 abstracts in were identified. Based on title and abstract the eligibility was assessed and 31 studies were included. Five conditions in relation to TML and testicular cancer emerged: Down syndrome, McCune–Albright syndrome, cryptorchidism, infertility and familial disposition of testicular...... cancer. Conclusion Data support the conclusion that TML is not an independent risk factor for testicular cancer but associated with testicular cancer through other conditions. In male infertility, TML appears to be related to an increased risk of testicular cancer possibly as part of a testicular...

  7. Reproductive hormones and metabolic syndrome in 24 testicular cancer survivors and their biological brothers.

    Science.gov (United States)

    Bandak, M; Jørgensen, N; Juul, A; Lauritsen, J; Kier, M G G; Mortensen, M S; Oturai, P S; Mortensen, J; Hojman, P; Helge, J W; Daugaard, G

    2017-07-01

    Testicular cancer survivors have impaired gonadal function and increased risk of metabolic syndrome when compared to healthy controls. However, because of the fetal etiology of testicular cancer, familial unrelated healthy men might not be an optimal control group. The objective of this study was to clarify if testicular cancer survivors have impaired gonadal function and increased risk of metabolic syndrome when compared to their biological brothers. A cross-sectional study of testicular cancer survivors (ClinicalTrials.gov number, NCT02240966) was conducted between 2014 and 2016. Of 158 testicular cancer survivors included, 24 had a biological brother who accepted to participate in the study. Serum levels of reproductive hormones and prevalence of metabolic syndrome according to International Diabetes Federation Criteria and National Cholesterol Education Program (Adult Treatment Panel III) criteria comprised the main outcome measures of the study. Median age was similar in testicular cancer survivors and their biological brothers [44 years (IQR 39-50) vs. 46 (40-53) years respectively (p = 0.1)]. In testicular cancer survivors, follow-up since treatment was 12 years (7-19). Serum levels of luteinizing hormone and follicle-stimulating hormone were elevated (p ≤ 0.001), while total testosterone, free testosterone, inhibin B and anti-Müllerian hormone were lower (p ≤ 0.001) in testicular cancer survivors than in their biological brothers. The prevalence of metabolic syndrome was similar and apart from HDL-cholesterol, which was lower in testicular cancer survivors (p = 0.01); there were no differences in the individual components of the metabolic syndrome between testicular cancer survivors and their brothers. In conclusion, gonadal function was impaired in testicular cancer survivors, while we did not detect any difference in the prevalence of metabolic syndrome between testicular cancer survivors and their biological brothers. © 2017 American

  8. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

    Directory of Open Access Journals (Sweden)

    Cassandre Labelle-Dumais

    2011-05-01

    Full Text Available Muscle-eye-brain disease (MEB and Walker Warburg Syndrome (WWS belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-translational modification. Here, we provide evidence that mutations in a gene coding for a major basement membrane protein, collagen IV alpha 1 (COL4A1, are a novel cause of MEB/WWS. Using a combination of histological, molecular, and biochemical approaches, we show that heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of MEB/WWS. Importantly, we identified putative heterozygous mutations in COL4A1 in two MEB/WWS patients. Both mutations occur within conserved amino acids of the triple-helix-forming domain of the protein, and at least one mutation interferes with secretion of the mutant proteins, resulting instead in intracellular accumulation. Expression and posttranslational modification of dystroglycan is unaltered in Col4a1 mutant mice indicating that COL4A1 mutations represent a distinct pathogenic mechanism underlying MEB/WWS. These findings implicate a novel gene and a novel mechanism in the etiology of MEB/WWS and expand the clinical spectrum of COL4A1-associated disorders.

  9. COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

    Science.gov (United States)

    Harrington, Emily P.; de Leau, Michelle; Lyons, David; Kabaeva, Zhyldyz; Manzini, M. Chiara; Dobyns, William B.; Walsh, Christopher A.; Michele, Daniel E.; Gould, Douglas B.

    2011-01-01

    Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-translational modification. Here, we provide evidence that mutations in a gene coding for a major basement membrane protein, collagen IV alpha 1 (COL4A1), are a novel cause of MEB/WWS. Using a combination of histological, molecular, and biochemical approaches, we show that heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of MEB/WWS. Importantly, we identified putative heterozygous mutations in COL4A1 in two MEB/WWS patients. Both mutations occur within conserved amino acids of the triple-helix-forming domain of the protein, and at least one mutation interferes with secretion of the mutant proteins, resulting instead in intracellular accumulation. Expression and posttranslational modification of dystroglycan is unaltered in Col4a1 mutant mice indicating that COL4A1 mutations represent a distinct pathogenic mechanism underlying MEB/WWS. These findings implicate a novel gene and a novel mechanism in the etiology of MEB/WWS and expand the clinical spectrum of COL4A1-associated disorders. PMID:21625620

  10. Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion

    Directory of Open Access Journals (Sweden)

    Satoshi Funada

    2016-01-01

    Full Text Available Russell-Silver syndrome (RSS is a type of primordial dwarfism. Only one case of testicular cancer in RSS has been reported, the pathology of which was nonseminoma. Here, we report a case of seminoma in a 36-year-old man who was diagnosed with RSS at birth. The seminoma was diagnosed when the patient presented with testicular torsion. This is the first report of testicular seminoma in an RSS patient in the literature. We also discussed the correlation between seminoma and RSS.

  11. Testicular parenchymal abnormalities in Klinefelter syndrome: a question of cancer? Examination of 40 consecutive patients

    Directory of Open Access Journals (Sweden)

    Giacomo Accardo

    2015-02-01

    Full Text Available Klinefelter syndrome (KS is a hypergonadotropic hypogonadism characterized by a 47, XXY karyotype. The risk of testicular cancer in KS is of interest in relation to theories about testicular cancer etiology generally; nevertheless it seems to be low. We evaluated the need for imaging and serum tumor markers for testicular cancer screening in KS. Participants were 40 consecutive KS patients, enrolled from December 2009 to January 2013. Lactate dehydrogenase (LDH, alpha-fetoprotein (AFP, and beta-human chorionic gonadotrophin subunit (β-HCG serum levels assays and testicular ultrasound (US with color Doppler, were carried out at study entry, after 6 months and every year for 3 years. Abdominal magnetic resonance (MR was performed in KS when testicular US showed micro-calcifications, testicular nodules and cysts. Nearly 62% of the KS had regular testicular echotexture, 37.5% showed an irregular echotexture and 17.5% had micro-calcifications and cysts. Eighty seven percent of KS had a regular vascular pattern, 12.5% varicocele, 12.5% nodules 1 cm. MR ruled out the diagnosis of cancer in all KS with testicular micro calcifications, nodules and cysts. No significant variations in LDH, AFP, and β-HCG levels and in US pattern have been detected during follow-up. We compared serum tumor markers and US pattern between KS with and without cryptorchidism and no statistical differences were found. We did not find testicular cancer in KS, and testicular US, tumor markers and MR were, in selected cases, useful tools for correctly discriminating benign from malignant lesions.

  12. Epigenetic: a molecular link between testicular cancer and environmental exposures?

    Directory of Open Access Journals (Sweden)

    Aurelie eVega

    2012-11-01

    Full Text Available In the last decades, studies in rodents have highlighted links between in utero and/or neonatal exposures to molecules that alter endocrine functions and the development of genital tract abnormalities, such as cryptorchidism, hypospadias, and impaired spermatogenesis. Most of these molecules, called endocrine disrupters (EDs exert estrogenic and/or antiandrogenic activities. These data led to the hypothesis of the Testicular Dysgenesis Syndrome which postulates that these disorders are one clinical entity and are linked by epidemiological and pathophysiological relations. Futhermore, infertility has been stated as a risk factor for testicular cancer. The incidence of testicular cancer has been increasing over the past decades. Most of testicular germ cell cancers develop through a pre-invasive carcinoma in situ (CIS from fetal germ cells (primordial germ cell or gonocyte. During their development, fetal germ cells undergo epigenetic modifications. Interestingly, several lines of evidence have shown that gene regulation through epigenetic mechanisms (DNA and histone modifications plays an important role in normal development as well as in various diseases, including testicular cancer.Here we will review chromatin modifications which can affect testicular physiology leading to the development of testicular cancer; and highlight potential molecular pathways involved in these alterations in the context of environmental exposures.

  13. Transverse testicular ectopia with persistent Mullerian duct syndrome

    African Journals Online (AJOL)

    anomaly and understanding of the embryological process of testicular descent and its associated aberration are prerequisites for the proper management of this rare anomaly. These findings highlight the importance of diagnostic laparoscopy in all patients presented with nonpalpable testes. Ann Pediatr Surg 8:62–63.

  14. Hypogonadism and fertility issues following primary treatment for testicular cancer.

    Science.gov (United States)

    Oldenburg, Jan

    2015-09-01

    The majority of testicular cancer (TC) patients are cured and expected to live for decades after treatment, such that knowledge about hypogonadism and fertility issues is particularly important for the group of testicular cancer survivors (TCSs). Hypogonadism and fertility issues are related to treatment intensity. In order to give an overview about hypogonadism in testicular cancer survivors (TCSs) the literature was reviewed. Testicular dysfunction was defined as inadequate spermatogenesis, as reflected by increased levels of Follicle Stimulating Hormone (FSH) and reduced fertility and/with or without insufficient testosterone (T) production with or without compensatory increased Luteinizing Hormone (LH) levels. Hypogonadism may lead to reduced sexual functioning and well-being, fertility problems, muscle weakness, loss of energy, and depression. Furthermore, hypogonadism also increases the risk of osteoporosis and is associated with the metabolic syndrome and cardiovascular disease (CVD). The hypothesized "Testicular Dysgenesis Syndrome" comprising low sperm counts, hypospadias, cryptorchidism, and finally TC, probably contributes to hypogonadism independent of applied TC treatment. Recently, an increased risk of accelerated hormonal ageing has been reported in TCSs in the very long term, i.e. 20 years after TC treatment. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome

    DEFF Research Database (Denmark)

    Lottrup, G; Nielsen, J E; Maroun, L L

    2014-01-01

    STUDY QUESTION: What is the differentiation stage of human testicular interstitial cells, in particular Leydig cells (LC), within micronodules found in patients with infertility, testicular cancer and Klinefelter syndrome? SUMMARY ANSWER: The Leydig- and peritubular-cell populations in testes......, and in the majority of LCs, it was mutually exclusive of DLK1. LIMITATIONS, REASONS FOR CAUTION: The number of samples was relatively small and no true normal adult controls were available. True stereology was not used for LC counting, instead LCs were counted in three fields of 0.5 µm(2) surface for each sample...... in adult men with testicular pathologies including testis cancer and Klinefelter syndrome. STUDY FUNDING/COMPETING INTERESTS: This work was funded by Rigshospitalet's research funds, the Danish Cancer Society and Kirsten and Freddy Johansen's foundation. The authors have no conflicts of interest....

  16. Coincidence of Persistent M?llerian duct syndrome and testicular tumors in dogs

    OpenAIRE

    Park, Eun Jung; Lee, Seok-Hee; Jo, Young-Kwang; Hahn, Sang-Eun; Go, Do-Min; Lee, Su-Hyung; Lee, Byeong-Chun; Jang, Goo

    2017-01-01

    Background Persistent M?llerian duct syndrome (PMDS), a rare form of male pseudohermaphroditism in dogs, is an abnormal sexual phenotype in males that is characterized by the existence of a hypoplastic oviduct, uterus, and cranial part of the vagina. Dogs suffering from PMDS are often accompanied by cryptorchidism. To date, it has been mainly found in the Miniature Schnauzer breed. Case presentation In this report, two cases of PMDS with a malignant testicular tumor originating from cryptorch...

  17. The metabolic syndrome and disturbances in hormone levels in long-term survivors of disseminated testicular cancer

    NARCIS (Netherlands)

    Nuver, J; Smit, AJ; Wolffenbuttel, BHR; Sluiter, WJ; Hoekstra, HJ; Sleifer, DT; Gietema, JA

    2005-01-01

    Purpose The metabolic syndrome may be an important risk factor for cardiovascular disease in long-term survivors of testicular cancer (TC). We investigated the associations between hormone levels and the metabolic syndrome in these men. Patients and Methods We included TC patients cured by

  18. CT manifestations of ileal dysgenesis

    Energy Technology Data Exchange (ETDEWEB)

    Oberhelman, Amy P.; Herman, Thomas E.; McAlister, William H. [St. Louis Children' s Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, Department of Radiology, St. Louis, MO (United States); Keating, James P. [St. Louis Children' s Hospital, Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Division of Gastroenterology, St. Louis, MO (United States); Rollins, Michael D.; Dillon, Patrick A. [St. Louis Children' s Hospital, Department of Surgery, Washington University School of Medicine, St. Louis, MO (United States)

    2007-02-15

    Ileal dysgenesis is an uncommon condition of unknown etiology occurring in the distal ileum in the region of the vitelline duct. The CT appearance of this lesion, although not previously described to our knowledge, is characteristic. We report a patient with ileal dysgenesis who had an abdominal CT scan to evaluate chronic iron deficiency anemia and protein-losing enteropathy. Recognition of this lesion by pediatric radiologists is important; so that surgical treatment, which is simple and effective, can be initiated quickly. (orig.)

  19. Testicular Injuries

    Science.gov (United States)

    ... Sports 5 Ideas for Eco-Friendly Celebrations Testicular Injuries KidsHealth > For Teens > Testicular Injuries Print A A ... addressed as soon as possible. continue Serious Testicular Injuries Examples of serious testicular injury are testicular torsion ...

  20. Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis.

    Science.gov (United States)

    Keskin, Melikşah; Savaş-Erdeve, Şenay; Kurnaz, Erdal; Çetinkaya, Semra; Karaman, Ayşe; Apaydın, Sema; Aycan, Zehra

    2016-01-01

    46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years. Her history and familial history involved no relevant conditions. She had Tanner stage 1 thelarche, and Tanner stage 2 pubic hair development with no axillary hair development. External genital structure appearance was consistent with female phenotype and the patient had no palpable gonad. The patient diagnosed as 46, XY complete gonadal dysgenesis after evaluation of laboratory analyses, radiological methods and karyotype. The Sexual Orientation and Gender Identity Committee concluded that gonadectomy should be performed. Histopathologic analysis demonstrated gonadoblastoma. Gonad structures should be sought laparoscopically and once diagnosed, streak gonads should be removed prophylactically in patients with 46, XY complete gonadal dysgenesis.

  1. Coincidence of Persistent Müllerian duct syndrome and testicular tumors in dogs.

    Science.gov (United States)

    Park, Eun Jung; Lee, Seok-Hee; Jo, Young-Kwang; Hahn, Sang-Eun; Go, Do-Min; Lee, Su-Hyung; Lee, Byeong-Chun; Jang, Goo

    2017-06-02

    Persistent Müllerian duct syndrome (PMDS), a rare form of male pseudohermaphroditism in dogs, is an abnormal sexual phenotype in males that is characterized by the existence of a hypoplastic oviduct, uterus, and cranial part of the vagina. Dogs suffering from PMDS are often accompanied by cryptorchidism. To date, it has been mainly found in the Miniature Schnauzer breed. In this report, two cases of PMDS with a malignant testicular tumor originating from cryptorchidism in breeds other than the Miniature Schnauzer breed are described. The patients were a seven-year-old male Maltese dog and a 17-year-old male mixed-breed dog weighing 3.8 kg. They also exhibited an enlarged prostate with or without abscess and an elevated serum estradiol level and were surgically treated to remove the testicular tumor and Müllerian duct derivatives. It is recommended that PMDS should be differentially diagnosed by ultrasonography and that orchiectomy be performed at an early age in patients suspected to have cryptorchidism to prevent the ectopic testes from becoming tumorous.

  2. Oral-facial-digital syndrome with mesoaxial polysyndactyly, common AV canal, hirschsprung disease and sacral dysgenesis: Probably a transitional type between II, VI, variant of type VI or a new type

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2014-07-01

    Full Text Available We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of oral-facial-digital syndrome type VI (OFDS VI including hypertelorism, bilateral convergent squint, depressed nasal bridge, and wide upturned nares, low set posteriorly rotated ears, long philtrum, gum hyperplasia with notches of the alveolar borders, high arched palate, and hyperplastic oral frenula. He has mesoaxial and postaxial, polysyndactyly which is the specific feature of OFDS VI, however the cerebellum is normal on MRI brain. He has also some rare congenital anomalies including common atrioventricular canal, hirschsprung disease, and sacral dysgenesis. This patient may have a transitional type between II and VI, a variant of type VI or a new type.

  3. Leydig cell dysfunction, systemic inflammation and metabolic syndrome in long-term testicular cancer survivors

    DEFF Research Database (Denmark)

    Bandak, M; Jørgensen, N; Juul, A

    2017-01-01

    BACKGROUND: Twenty to thirty percent of testicular cancer (TC) survivors have elevated serum levels of luteinising hormone (LH) with or without corresponding low testosterone levels (Leydig cell dysfunction) during clinical follow-up for TC. However, it remains to be clarified if this subgroup...... of TC survivors has an increased long-term risk of systemic inflammation and metabolic syndrome (MetS) when compared with TC survivors with normal Leydig cell function during follow-up. PATIENTS AND METHODS: TC survivors with Leydig cell dysfunction and a control group of TC survivors with normal Leydig...... was higher in TC survivors with uncompensated Leydig cell dysfunction during follow-up, there was no evidence of increased systemic inflammation in patients with Leydig cell dysfunction during clinical follow-up. Total testosterone at follow-up was significantly associated with MetS, whereas...

  4. Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype.

    Science.gov (United States)

    Wong, Y S; Tam, Y H; Pang, K K Y; To, K F; Chan, S S C; Chan, K W; Lee, K H

    2017-10-01

    Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis. A retrospective study on consecutive patients diagnosed with 46,XY gonadal dysgenesis at age ≤18 years in a tertiary center from 1985 to 2015. The clinical presentations, phenotypes, gonadal features and associated anomalies were investigated. Twenty-eight patients with Y-chromosome gonadal dysgenesis were identified during the study period and six (21.4%) had non-mosaic 46,XY karyotype. Three had complete gonadal dysgenesis (CGD) with normal female phenotype, while the other three had partial gonadal dysgenesis (PGD). Of the three patients with CGD, two presented with the classical Swyer syndrome at adolescence, while the third presented at birth with multiple congenital anomalies. The three PGD patients presented with ambiguous genitalia at birth (n = 2), and isolated hypospadias (n = 1), which was associated with Frasier syndrome. Three patients had germ cell neoplasms: bilateral gonadoblastoma (n = 1), bilateral intratubular germ cell neoplasia unclassified (n = 1), and dysgerminoma + gonadoblastoma (n = 1). Two patients had global developmental delay with other congenital anomalies, and another patient had learning difficulties with borderline intelligence (Table). The findings suggest that 46,XY gonadal dysgenesis is much rarer than 45,X/46,XY gonadal dysgenesis. Patients differed in their clinical presentations and well-established syndromes happened in half of them. Overall, the risk of germ

  5. Spinal segmental dysgenesis CASE SERIES

    African Journals Online (AJOL)

    Spinal segmental dysgenesis is a rare congenital spinal abnormality seen in neonates and infants, in which a segment of the spine and spinal cord fails to develop normally. The condition is segmental in nature, with vertebrae above and below the malformation. It is commonly associated with various abnormalities that ...

  6. Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.

    Science.gov (United States)

    Chauhan, Vasundhera; Jyotsna, Viveka P; Jain, Vandana; Khadgawat, Rajesh; Dada, Rima

    2017-01-01

    46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunctional testes in genotypic males. The molecular etiology is not known in about 2 thirds of instances. The aim of this study was to identify the genetic cause in patients with 46,XY gonadal dysgenesis. Based on clinical, cytogenetic, and biochemical screening, 10 patients with 46,XY GD were recruited. Direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes was carried out for molecular analysis. Among 10 patients, 5 were diagnosed with complete gonadal dysgenesis (CGD), 3 with partial gonadal dysgenesis (PGD), and 3 with testicular agenesis. Molecular analysis revealed 12 heterozygous genetic changes, 4 of which were novel. One (c.416T>A) was observed in evolutionary conserved region of DMRT1 gene in a patient with CGD and was found to be probably damaging on in silico analysis. Other 3 were identified in NR5A1 gene (c.990+22 C>A, c.1387+1403T>A and p.131P), but their association with gonadal dysgenesis is not evident from our study. These genetic changes were absent in parents and 50 healthy control samples, which were also studied. With targeted sequencing approach, a molecular diagnosis was made in only one patient with 46,XY GD. The application of new genomic technologies is required for the precise evaluation of these rare genetic defects. © Georg Thieme Verlag KG Stuttgart · New York.

  7. Predictive Factors of Successful Microdissection Testicular Sperm Extraction in Patients with Presumed Sertoli Cell-Only Syndrome

    OpenAIRE

    Tahereh Modarresi; Hani Hosseinifar; Ali Daliri Hampa; Mohammad Chehrazi; Jalil Hosseini; Faramarz Farrahi; Farid Dadkhah; Marjan Sabbaghian; Mohammad Ali Sadighi Gilani

    2015-01-01

    Background: To evaluate predictive factors of successful microdissection-testicular sperm extraction (MD-TESE) in patients with presumed Sertoli cell-only syndrome (SCOS). Materials and Methods: In this retrospective analysis, 874 men with non-obstructive azoospermia (NOA), among whom 148 individuals with diagnosis of SCOS in prior biopsy, underwent MD-TESE at Department of Andrology, Royan Institute, Tehran, Iran. The predictive values of follicle stimulating hormone (FSH),...

  8. Predictive Factors of Successful Microdissection Testicular Sperm Extraction in Patients with Presumed Sertoli Cell-Only Syndrome

    Directory of Open Access Journals (Sweden)

    Tahereh Modarresi

    2015-04-01

    Full Text Available Background: To evaluate predictive factors of successful microdissection-testicular sperm extraction (MD-TESE in patients with presumed Sertoli cell-only syndrome (SCOS. Materials and Methods: In this retrospective analysis, 874 men with non-obstructive azoospermia (NOA, among whom 148 individuals with diagnosis of SCOS in prior biopsy, underwent MD-TESE at Department of Andrology, Royan Institute, Tehran, Iran. The predictive values of follicle stimulating hormone (FSH, luteinizing hormone (LH, and testosterone (T levels, testicular volume, as well as male age for retrieving testicular sperm by MD-TESE were analyzed by multiple logistic regression analysis. Results: Testicular sperm were successfully retrieved in 23.6% men with presumed SCOS. Using receiver operating characteristic (ROC curve analysis, it was shown that sperm retrieval rate in the group of men with FSH values >15.25% was 28.9%. This was higher than the group of men with FSH ≤15.25 (11.8%. Conclusion: Sperm retrieval rate (SRR was 23.6% in men with presumed SCOS and FSH level can be a fair predictor for SPR at MD-TESE. MD-TESE appears to be recommendable in such cases (SCOS with high FSH concentration with reasonable results. Keywords: Follicle Stimulating Hormone, Luteinizing Hormone, Sperm Retrieval, Azoospermia, Nonobstructive

  9. Microdissection testicular sperm extraction in patients with non-mosaic Klinefelter syndrome in programme in vitro fertilization: literature review and cases report

    Directory of Open Access Journals (Sweden)

    I. I. Vityazeva

    2014-12-01

    Full Text Available The article describes modern methods of examination, preoperative preparation and surgical treatment of infertility in men with non-mosaic form of Klinefelter syndrome (SK by microdissection method of testicular sperm retrieval. Men with SK responsive to hormonal therapy with aromatase inhibitors and human chorionic gonadotropin (НCG, have a greater chance of a favourable outcome of infertility treatment. Testicular volume, testosterone levels and test results with НCG are important prognostic factors in this group of patients. We present a clinical case of treatment of infertility in men with SK by microTESE (microdissection testicular sperm extraction.

  10. Testicular biopsy and cryopreservation for fertility preservation of prepubertal boys with Klinefelter syndrome: a pro/con debate.

    Science.gov (United States)

    Gies, Inge; Oates, Robert; De Schepper, Jean; Tournaye, Herman

    2016-02-01

    In about one-half of adult Klinefelter syndrome (KS) patients, spermatozoa can be retrieved by means of testicular biopsy (TESE). Given the expected increase in the number of diagnosed KS patients owing to the use of noninvasive prenatal testing, the probable questions of young KS patients and their parents regarding future fertility, and the fact that widespread apoptosis of spermatogonia occurs at onset of puberty, an attempt to increase the retrieval rates at TESE above those found in adult KS men by undertaking preservation techniques peripubertally has been initiated. To date, however, only a limited number of KS adolescents have been examined, demonstrating no increases in the chances of finding sperm. Furthermore, spermatogonial stem cell and testicular tissue freezing techniques, as well as in vitro maturation strategies, require further validation. Given these controversies, banking testicular tissue from prepubertal KS boys should be performed only in a research framework. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  11. MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

    Science.gov (United States)

    Granados, Andrea; Alaniz, Veronica I; Mohnach, Lauren; Barseghyan, Hayk; Vilain, Eric; Ostrer, Harry; Quint, Elisabeth H; Chen, Ming; Keegan, Catherine E

    2017-06-01

    Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants. Three of these individuals presented with complete gonadal dysgenesis, characterized by bilateral streak gonads with typical internal and external female genitalia, while the other three presented with partial gonadal dysgenesis, characterized by incomplete testicular development, resulting in clitoral hypertrophy with otherwise typical female external genitalia. Testing for MAP3K1 variants should be considered in patients with 46,XY complete or partial gonadal dysgenesis, particularly in families with multiple members affected with 46,XY DSD. Identification of a MAP3K1 variant should prompt an evaluation for DSD in female siblings of the proband. © 2017 Wiley Periodicals, Inc.

  12. Environment, testicular dysgenesis and carcinoma in situ testis

    DEFF Research Database (Denmark)

    Olesen, Inge A; Sonne, Si Brask; Hoei-Hansen, Christina E

    2007-01-01

    the hormonal milieu of the developing gonad are the endocrine disrupters. A prenatal exposure to commonly used chemicals, e.g. phthalates, may result in a TDS-like phenotype in rats. Currently, this animal model is the best model for TDS. In humans the situation is much more complex, and TDS exists in a wide...

  13. Leydig cell dysfunction, systemic inflammation and metabolic syndrome in long-term testicular cancer survivors.

    Science.gov (United States)

    Bandak, M; Jørgensen, N; Juul, A; Lauritsen, J; Oturai, P S; Mortensen, J; Hojman, P; Helge, J W; Daugaard, G

    2017-10-01

    Twenty to thirty percent of testicular cancer (TC) survivors have elevated serum levels of luteinising hormone (LH) with or without corresponding low testosterone levels (Leydig cell dysfunction) during clinical follow-up for TC. However, it remains to be clarified if this subgroup of TC survivors has an increased long-term risk of systemic inflammation and metabolic syndrome (MetS) when compared with TC survivors with normal Leydig cell function during follow-up. TC survivors with Leydig cell dysfunction and a control group of TC survivors with normal Leydig cell function during follow-up were eligible for participation in the study. Markers of systemic inflammation and prevalence of MetS were compared between TC survivors with Leydig cell dysfunction and the control group. Of 158 included TC survivors, 28 (18%) had uncompensated Leydig cell dysfunction, 59 (37%) had compensated Leydig cell dysfunction and 71 (45%) had normal Leydig cell function during follow-up. MetS and markers of systemic inflammation were evaluated at a median follow-up of 9.7 years (interquartile range 4.1-17.1) after TC treatment. The prevalence of MetS was significantly lower among patients with compensated Leydig cell dysfunction during follow-up (12% versus 27%, p = 0.04), whereas there was no difference between TC survivors with uncompensated Leydig cell dysfunction and controls (33% versus 27%, p = 0.5). Apart from high-sensitivity C-reactive protein which was higher in TC survivors with uncompensated Leydig cell dysfunction during follow-up, there was no evidence of increased systemic inflammation in patients with Leydig cell dysfunction during clinical follow-up. Total testosterone at follow-up was significantly associated with MetS, whereas there was no association between LH and MetS. We did not find evidence that TC survivors with Leydig cell dysfunction during clinical follow-up had increased long-term risk of MetS. Total testosterone at follow-up was significantly associated

  14. An atypical case of segmental spinal dysgenesis

    Energy Technology Data Exchange (ETDEWEB)

    Zana, Elodie; Chalard, Francois; Sebag, Guy [Hopital Robert Debre, Department of Paediatric Imaging, Paris (France); Mazda, Keyvan [Hopital Robert Debre, Department of Paediatric Orthopaedic Surgery, Paris (France)

    2005-09-01

    Spinal segmental dysgenesis is a complex closed dysraphism. The diagnostic criteria are: lumbar or thoracolumbar vertebral dysgenesis causing kyphosis, focal spinal cord narrowing without exiting roots, deformity of the lower limbs and paraplegia or paraparesis. We present a newborn who showed atypical features of bifocal spinal cord narrowing, without any vertebral abnormality at the proximal level. This seems to be a variant of this rare entity, whose early diagnosis is important, as surgical stabilisation of the spine is required. (orig.)

  15. Medical and psychosexual outcome in women affected by complete gonadal dysgenesis.

    Science.gov (United States)

    McCarty, Bryan M; Migeon, Claude J; Meyer-Bahlburg, Heino F L; Zacur, Howard; Wisniewski, Amy B

    2006-07-01

    Prenatal exposure to testicular hormones influences the development of brain structures and behavior in many non-human mammalian species. Less understood is the role of possessing a Y chromosome, independent of testicular hormones, on psychosexual differentiation. Phenotypic women affected by complete gonadal dysgenesis possess a 46,XY chromosome complement and streak gonads. This population is suitable to test the influence of an absence of androgens and Müllerian inhibiting substance on psychosexual development in genetic males. Three 46,XY women diagnosed with complete gonadal dysgenesis participated. Psychosexual development, medical outcome and knowledge of medical condition were assessed with a written questionnaire and a physical examination. All participants were healthy, compliant with their hormone therapy, and exhibited female-typical psychosexual development. However, participants were poorly informed about their condition and the fertility treatment options available to them. These data indicate no obvious role for genes on the Y chromosome, outside of its pseudoautosomal region and SRY, on psychosexual differentiation in genetic males who do not produce testicular hormones. Greater efforts need to be made to educate affected women about their pregnancy options.

  16. Primary testicular failure in Klinefelter's syndrome: the use of bivariate luteinizing hormone-testosterone reference charts

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Andersson, Anna-Maria; Jørgensen, Niels

    2007-01-01

    The diagnosis of androgen deficiency is based on clinical features and confirmatory low serum testosterone levels. In early primary testicular failure, a rise in serum LH levels suggests inadequate androgen action for the individual's physiological requirements despite a serum testosterone level ...

  17. Gonadal Dysgenesis: Report of a Middle-Aged Patient with Un ...

    African Journals Online (AJOL)

    A 44-year-old patient with gonadal dysgenesis (Turner's syndrome) is described, in whom the presence of ununited iliac crest epiphyses was found. The extreme delay of epiphyseal maturation encountered in this case is thought to be the longest yet recorded in the literature. The finding supports the contention that delayed ...

  18. The diagnostic impact of testicular biopsies for intratubular germ cell neoplasia in cryptorchid boys and the subsequent risk of testicular cancer in men with prepubertal surgery for syndromic or non-syndromic cryptorchidism

    DEFF Research Database (Denmark)

    Osterballe, Lene; Clasen-Linde, Erik; Cortes, Dina

    2017-01-01

    INTRODUCTION: Cryptorchidism is a risk factor for testicular cancer in adult life. It remains unclear how prepubertal surgery for cryptorchidism impacts later development of adult testicular cancer. The aim of study was to investigate tools to identify the cryptorchid boys who later develop...... testicular cancer. METHODS: The study cohort consisted of 1403 men operated prepubertally/pubertally for undescended testis between 1971 and 2003. At surgery testicular biopsies were taken from the cryptorchid testes. The boys were followed for occurrence of testicular cancer. The testicular cancer risk....... We identified 16 cases with testicular cancer in adulthood. The standardized incidence ratio was 2.66 (95% CI: 1.52-4.32). At time of primary surgery in prepubertal/pubertal age Intratubular Germ Cell Neoplasia (ITGCN) was diagnosed in 5 cases and the boys were unilaterally orchiectomized. At follow...

  19. Laparoscopic management of transverse testicular ectopia with persistent mullerian duct syndrome

    Directory of Open Access Journals (Sweden)

    R S Kamble

    2015-01-01

    Full Text Available A 4-month-old male child presented with right undescended testis and left inguinal hernia with funiculitis. Ultrasonography showed funiculitis on the left side testis along with presence of 1.5 × 1 cm testis like structure just above left testis and empty right scrotal sac without any evidence of mullerian structures. On diagnostic laparoscopy, right testicular vessels were crossing from right to left and had uterus with both testes in left hernia sac. Mobilization of vessels, division of uterus, and hernia repair was done laparoscopically. On the review of literature, there is only one case report of total laparoscopic repair of transversetesticular ectopia (TTE with hernia without persistent mullerian duct (PMDS. The uniqueness of our case is that it had TTE with hernia and PMDS, which were totally managed by laparoscopy. On 6 months of follow-up, both the testes are palpable in scrotum.

  20. Testicular Torsion

    Science.gov (United States)

    ... Campbell-Walsh Urology. 10th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.clinicalkey.com. Accessed Feb. 13, 2015. Somani BK, et al. Testicular torsion. BMJ. 2010;341:c3213. Cubillos J, et al. Familial testicular torsion. Journal of Urology. 2011;185:2469. Hittelman AB. Neonatal ...

  1. TESTICULAR TORSION:

    African Journals Online (AJOL)

    TESTICULAR TORSION: EXPERIENCE IN THE MIDDLE BELT OF NIGERIA. S.A. KURANGA AND G.A. RAHMAN. Department of Surgery, University of l/orin Teaching Hospital, Ilorin, Nigeria. Objective To determine the fate of the testis affected by testicular torsion (TT) in relation to the duration of the symptoms and to.

  2. Testicular Sperm Sampling by Subcapsular Orchiectomy in Klinefelter Patients

    DEFF Research Database (Denmark)

    Fedder, Jens; Gravholt, Claus H.; Kristensen, Stine Gry

    2015-01-01

    OBJECTIVE: To evaluate subcapsular orchiectomy as a method to retrieve spermatozoa from minute testicular foci in men with Klinefelter syndrome (KS). METHODS: Fourteen men with KS were consecutively recruited to unilateral subcapsular orchiectomy. Testicular tissue was dissected mechanically...

  3. Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility.

    Science.gov (United States)

    Olesen, Inge Ahlmann; Andersson, Anna-Maria; Aksglaede, Lise; Skakkebaek, Niels Erik; Rajpert-de Meyts, Ewa; Joergensen, Niels; Juul, Anders

    2017-01-01

    To study the pathologic findings among men evaluated for infertility. A retrospective, single-center, cross-sectional study. University hospital-based research center. We included data from 1,213 medical records from infertile men referred for diagnostic work-up from 2005 to 2009. None. Health history, clinical findings, chromosome/genetic aberrations, semen quality, reproductive hormones. In total, 64.4% of the infertile men had one or more reproductive disorders or factors influencing fertility, leaving 35.6% diagnosed as idiopathic infertile. In 244 patients (20%), including seven cases of testicular cancer and/or germ cell neoplasia in situ, a pathologic finding was first detected during diagnostic work-up. Two hundred four patients (16.8%) had a history of cryptorchidism and 154 (12.7%) of varicocele (grade 2 and 3). Thirty-three patients had chromosomal abnormalities, including 16 with sex chromosome abnormalities (11 with 47,XXY). Y-chromosome microdeletions were detected in 65 patients (5.4%). One hundred thirty-three had azoospermia, of which 58 had testicular biopsy findings (Sertoli cell-only syndrome: n = 23; spermatogenic arrest: n = 7; impaired spermatogenesis and atrophy: n = 28). Additionally, in idiopathic infertile men and infertile men with additional symptoms of testicular dysgenesis syndrome, 22.5% presented with a degree of Leydig cell insufficiency, with the highest frequency (33.1%) among patients with sperm concentration men referred to our center. Thus, male infertility may be a sign of an underlying disease that warrants attention. Copyright © 2016. Published by Elsevier Inc.

  4. Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis

    OpenAIRE

    Takahashi, Ikuko; Miyamoto, Junko; Hasegawa, Yukihiro

    2006-01-01

    Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome usually presenting with ambiguous genitalia. Karyotype analysis is one of the essential components in the diagnosis of MGD and is conventionally done with peripheral lymphocytes by the G-banding technique. It is speculated that this conventional karyotype analysis has limitations since there are often difference in gonadal tissue analysis. Here we present four cases of MGD, in which karyotype analysis were performed...

  5. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

    Science.gov (United States)

    Cilliers, Deirdre D; Parveen, Rahat; Clayton, Peter; Cairns, Stephen A; Clarke, Sheila; Shalet, Stephen M; Black, Graeme C M; Newman, William G; Clayton-Smith, Jill

    2007-01-01

    X-linked mental retardation (XLMR) is a heterogeneous disorder with both syndromic and non-syndromic forms. Here we describe the clinical and molecular characterisation of a family with a syndromic form of XLMR with hypogonadism and short stature. We investigated a family in which four male members in two generations presented with hypergonadotrophic hypogonadism associated with development of small and abnormal testes. In two of the males, late-onset testicular ascent was noted. In addition, all affected males had short stature (maps to the same X chromosome region implicated in our family. However, the more severe mental retardation, muscle wasting and tremor described in this other family would suggest that our family is affected by a novel XLMR syndrome.

  6. Testicular Cancer Screening

    Science.gov (United States)

    ... Professional Testicular Cancer Treatment Testicular Cancer Screening Testicular Cancer Screening (PDQ®)–Patient Version What is screening? Go to ... testicles, and need to be followed closely. Testicular Cancer Screening Key Points Tests are used to screen for ...

  7. Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype

    Energy Technology Data Exchange (ETDEWEB)

    Tarim, O.; Lieber, E. [Maimonides Medical Center, Brooklyn, NY (United States)]|[Interfaith Medical Center, Brooklyn, NY (United States)

    1994-09-01

    A 14 8/12-year-old white female patient was evaluated for short stature and amenorrhea. The past and family history were unremarkable. The physical examination revealed a short girl (131.4 cm; height age: 9) with a weight of 39.5kg (weight age: 11-6/12). The blood pressure was in the normal range in all four extremities and the peripheral pulses were positive. She had stigmata of Turner`s syndrome including short neck and slight webbing, cubitus valgus, and shield chest. There was no heart murmur. The only pubertal sign was pubic hair of Tanner stage II. The chromosome study showed a mosaic pattern. A total of 67 cultured lymphocytes from peripheral blood were analyzed which revealed 13 cells with 45,XO; 14 with 46,XY,r(Y); 39 with 46,XY. The patient had a normal vagina and hypoplastic uterus by sonogram. The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy. The histologic examination of the gonads showed a testicle on the left and a streak ovary on right. The karyotype of the testicular tissue revealed 45,XO in 32 out of 40 and 46,XY in the remaining 8 cells. Pre-operative hormonal evaluation showed elevated gonadotropin levels of FSH 73.5 and LH 12.5 mIU/ml, low estradiol level of 5 pg/ml, normal testosterone level of 18 and DHEA-S of 181 mcg/dl, and normal thyroid function test with T4 of 6 mcg/dl and TSH of 4.2 mIU/ml. Her bone age was 12 years. The patient was also found to have subnormal growth hormone (GH) secretion by overnight GH study (1.55 ng/ml), clonidine stimulation test (7.3ng/ml), and insulin stimulation test (9.2 ng/ml). She responded well to human synthetic GH treatment with a growth velocity of 11.5 cm in two years. Replacement of sex hormones will be initiated after the completion of growth.

  8. Metachronous Bilateral Testicular Leydig-Like Tumors Leading to the Diagnosis of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome)

    Science.gov (United States)

    Vukina, Josip; Chism, David D.; Sharpless, Julie L.; Raynor, Mathew C.; Milowsky, Matthew I.; Funkhouser, William K.

    2015-01-01

    A 33-year-old male with a history of left testis Leydig cell tumor (LCT), 3-month status after left radical orchiectomy, presented with a rapidly enlarging (0.6 cm to 3.7 cm) right testicular mass. He underwent a right radical orchiectomy, sections interpreted as showing a similar Leydig cell-like oncocytic proliferation, with a differential diagnosis including metachronous bilateral LCT and metachronous bilateral testicular tumors associated with congenital adrenal hyperplasia (a.k.a. “testicular adrenal rest tumors” (TARTs) and “testicular tumors of the adrenogenital syndrome” (TTAGS)). Additional workup demonstrated a markedly elevated serum adrenocorticotropic hormone (ACTH) and elevated adrenal precursor steroid levels. He was diagnosed with congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase deficiency (3BHSD) type, and started on treatment. Metachronous bilateral testicular masses in adults should prompt consideration of adult presentation of CAH. Since all untreated CAH patients are expected to have elevated serum ACTH, formal exclusion of CAH prior to surgical resection of a testicular Leydig-like proliferation could be accomplished by screening for elevated serum ACTH. PMID:26351608

  9. Metachronous Bilateral Testicular Leydig-Like Tumors Leading to the Diagnosis of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome

    Directory of Open Access Journals (Sweden)

    Josip Vukina

    2015-01-01

    Full Text Available A 33-year-old male with a history of left testis Leydig cell tumor (LCT, 3-month status after left radical orchiectomy, presented with a rapidly enlarging (0.6 cm to 3.7 cm right testicular mass. He underwent a right radical orchiectomy, sections interpreted as showing a similar Leydig cell-like oncocytic proliferation, with a differential diagnosis including metachronous bilateral LCT and metachronous bilateral testicular tumors associated with congenital adrenal hyperplasia (a.k.a. “testicular adrenal rest tumors” (TARTs and “testicular tumors of the adrenogenital syndrome” (TTAGS. Additional workup demonstrated a markedly elevated serum adrenocorticotropic hormone (ACTH and elevated adrenal precursor steroid levels. He was diagnosed with congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase deficiency (3BHSD type, and started on treatment. Metachronous bilateral testicular masses in adults should prompt consideration of adult presentation of CAH. Since all untreated CAH patients are expected to have elevated serum ACTH, formal exclusion of CAH prior to surgical resection of a testicular Leydig-like proliferation could be accomplished by screening for elevated serum ACTH.

  10. A rare case report of 46XY mixed gonadal dysgenesis

    Directory of Open Access Journals (Sweden)

    Rakesh Arora

    2013-01-01

    Full Text Available A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner′s stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH. Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 μg/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml or elevated level of 17-OH-progesterone (0.16 ng/ml. Pooled luteinizing hormone (LH was 11.79 mIU/ml and follicle-stimulating hormone (FSH was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251. Basal and 72 h post beta-human chorionic gonadotropin (hCG levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml. Magnetic resonance imaging (MRI pelvis (with ultrasonogrphy [USG] correlation revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD. The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient′s caregivers.

  11. A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report

    Directory of Open Access Journals (Sweden)

    Mai Phuong L

    2007-03-01

    Full Text Available Abstract Background Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings in affected and unaffected family members might indicate a previously-unidentified hereditary cancer syndrome. Case presentation The patient was diagnosed with a left testicular seminoma at age 28, and treated with left orchiectomy followed by adjuvant cobalt radiation. His family history is significant for testicular seminoma in his son, bladder cancer in his sister, and lipomatosis in his father. His evaluation as part of an etiologic study of familial testicular cancer revealed multiple colon polyps (adenomatous, hyperplastic, and hamartomatous first found in his 50 s, multiple lipomas, multiple hyperpigmented skin lesions, left kidney cancer diagnosed at age 64, and a growth-hormone producing pituitary adenoma with associated acromegaly diagnosed at age 64. The patient underwent genetic testing for Cowden syndrome (PTEN gene, Carney complex (PRKAR1A gene, and multiple endocrine neoplasia syndrome type 1 (MEN1 gene; no deleterious mutations were identified. Discussion The constellation of benign and malignant neoplasms in the context of this patient's familial testicular cancer raised the possibility that these might be manifestations of a known hereditary susceptibility cancer syndrome; however, genetic testing for the three syndromes that were most likely to explain these findings did not show any mutation. Alternatively, this family's phenotype might represent a novel neoplasm susceptibility disorder. This possibility cannot be evaluated definitively on the basis of a single case report; additional observations and studies are necessary to investigate this hypothesis further.

  12. Testicular torsion

    DEFF Research Database (Denmark)

    Brasso, K; Andersen, L; Kay, L

    1993-01-01

    Thirty-five patients were examined 6-11 years after operation for torsion of the testis. Loss of testicular tissue was significantly associated with long preoperative duration of symptoms and with low postoperative sperm counts. The sex hormones were normal in the majority of patients but there w......Thirty-five patients were examined 6-11 years after operation for torsion of the testis. Loss of testicular tissue was significantly associated with long preoperative duration of symptoms and with low postoperative sperm counts. The sex hormones were normal in the majority of patients...

  13. Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.

    Science.gov (United States)

    Georg, I; Bagheri-Fam, S; Knower, K C; Wieacker, P; Scherer, Gerd; Harley, V R

    2010-01-01

    During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9, TESCO. Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained. Heterozygous SOX9 mutations can cause XY GD in association with the skeletal malformation syndrome campomelic dysplasia. We hypothesized that human TESCO mutations could cause isolated XY GD. Sixty-six XY GD cases with an intact SRY were analyzed for TESCO point mutations or deletions. No mutations were identified. We conclude that TESCO mutations are not a common cause of XY GD. Copyright © 2010 S. Karger AG, Basel.

  14. Testicular swelling: a rare manifestation of chronic lymphocytic leukemia presenting with Richter's syndrome.

    Science.gov (United States)

    Jha, Bhawna; Dass, Jasmita; Sachdev, Ritesh; Bhargava, Rahul

    2014-01-01

    Richter syndrome (RS) represents the clinico-pathologic transformation of indolent lymphomas to an aggressive lymphoma, most commonly diffuse large B-cell lymphoma. Majority of the patients have a previous diagnosis of Chronic Lymphocytic Leukemia and the median time to transformation is 2-4 years. De novo RS is extremely uncommon. RS frequently arises in the lymph nodes or bone marrow and rarely presents with extra nodal involvement, common sites being the gastrointestinal tract, eye, central nervous system, lung and kidney. Involvement of testis by RS is extremely rare and we came across only one such reported case in the literature. We are reporting this case as our patient presented with de novo RS at an extremely uncommon extra nodal site, testis.

  15. Testicular lymphoma

    DEFF Research Database (Denmark)

    Møller, Michael Boe; d'Amore, F; Christensen, Bjarne Egelund

    1994-01-01

    In a Danish population-based non-Hodgkin's lymphoma registry, 2687 newly diagnosed patients were registered from 1983 to 1992. 39 had testicular involvement (TL) (incidence 0.26/10(5)/year). Median age was 71 years. 24 cases had localised and 15 had disseminated disease. Histologically, all cases...

  16. Testicular Cancer

    Science.gov (United States)

    ... of skin behind the penis. You can get cancer in one or both testicles. Testicular cancer mainly affects young men between the ages of ... undescended testicle Have a family history of the cancer Symptoms include pain, swelling, or lumps in your ...

  17. Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis.

    Science.gov (United States)

    Jiang, Jian-Fa; Tian, Qin-Jie; Xue, Wei; Deng, Yan; Zheng, Ting-Ping; Sun, Ai-Jun

    2016-08-01

    Objective To summarize the clinical features of XO/XY gonadal dysgenesis. Method We retrospectively analyzed the clinical data of patients with XO/XY gonadal dysgenesis admitted to Peking Union Medical College Hospital from January 2008 to May 2015. Results Totally 32 patients with XO/XY gonadal dysgenesis were included. The social gender was female in all subjects and the age 6 to 33 years. Patients presented mainly with primary amenorrhea or short stature,and usually had specific somatic signs of Turner's syndrome. The breast development of 27 patients (84.38%) was less than level 3. The armpit hair was sparse or absent in 28 patients (87.5%) and the pubic hair was sparse or absent in 26 patients (81.25%).Other findings include naive vulva (n=18,56.25%)) and enlarged clitoris (n=5,15.63%). The average level of follicle stimulating hormone was (78.56±35.62) mIU/ml,the luteinizing hormone level was (20.23±11.35) mIU/ml,the estradiol level was (9.94±8.21) pg/ml,and the testosterone level was (0.24±0.18) ng/ml. All patients received prophylactic gonadectomy. The histopathology results showed a variety of gonads,and gonadal malignancy were observed in 4 patients.Conclusions Patients with XO/XY gonadal dysgenesis manifest primary amenorrhea or short stature,poorly developed secondary sexual characteristics,and elevated gonadotropin level. The gonads have increased risk of gonadal malignancy.

  18. Single-nucleotide polymorphism in the 5-alpha-reductase gene (SRD5A2) is associated with increased prevalence of metabolic syndrome in chemotherapy-treated testicular cancer survivors

    NARCIS (Netherlands)

    Boer, Hink; Westerink, Nico-Derk L.; Altena, Renske; Nuver, Janine; Dijck-Brouwer, D. A. Janneke; van Faassen, Martijn; Klont, Frank; Kema, Ido P.; Lefrandt, Joop D.; Zwart, Nynke; Boezen, H. Marike; Smit, Andries J.; Meijer, Coby; Gietema, Jourik A.

    Purpose: Chemotherapy-treated testicular cancer survivors are at risk for development of the metabolic syndrome, especially in case of decreased androgen levels. Polymorphisms in the gene encoding steroid 5-alpha-reductase type II (SRD5A2) are involved in altered androgen metabolism. We investigated

  19. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

    NARCIS (Netherlands)

    Sun, Yu; Bak, Beata; Schoenmakers, Nadia; van Trotsenburg, A. S. Paul; Oostdijk, Wilma; Voshol, Peter; Cambridge, Emma; White, Jacqueline K.; le Tissier, Paul; Gharavy, S. Neda Mousavy; Martinez-Barbera, Juan P.; Stokvis-Brantsma, Wilhelmina H.; Vulsma, Thomas; Kempers, Marlies J.; Persani, Luca; Campi, Irene; Bonomi, Marco; Beck-Peccoz, Paolo; Zhu, Hongdong; Davis, Timothy M. E.; Hokken-Koelega, Anita C. S.; del Blanco, Daria Gorbenko; Rangasami, Jayanti J.; Ruivenkamp, Claudia A. L.; Laros, Jeroen F. J.; Kriek, Marjolein; Kant, Sarina G.; Bosch, Cathy A. J.; Biermasz, Nienke R.; Appelman-Dijkstra, Natasha M.; Corssmit, Eleonora P.; Hovens, Guido C. J.; Pereira, Alberto M.; den Dunnen, Johan T.; Wade, Michael G.; Breuning, Martijn H.; Hennekam, Raoul C.; Chatterjee, Krishna; Dattani, Mehul T.; Wit, Jan M.; Bernard, Daniel J.

    2012-01-01

    Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Using exome and candidate gene sequencing, we identified 8 distinct mutations and 2 deletions in IGSF1 in males from 11 unrelated families with central hypothyroidism, testicular

  20. Whole genome sequencing in Drosophila virilis identifies Polyphemus, a recently activated Tc1-like transposon with a possible role in hybrid dysgenesis.

    Science.gov (United States)

    Blumenstiel, Justin P

    2014-02-20

    Hybrid dysgenic syndromes in Drosophila have been critical for characterizing host mechanisms of transposable element (TE) regulation. This is because a common feature of hybrid dysgenesis is germline TE mobilization that occurs when paternally inherited TEs are not matched with a maternal pool of silencing RNAs that maintain transgenerational TE control. In the face of this imbalance TEs become activated in the germline and can cause F1 sterility. The syndrome of hybrid dysgenesis in Drosophila virilis was the first to show that the mobilization of one dominant TE, the Penelope retrotransposon, may lead to the mobilization of other unrelated elements. However, it is not known how many different elements contribute and no exhaustive search has been performed to identify additional ones. To identify additional TEs that may contribute to hybrid dysgenesis in Drosophila virilis, I analyzed repeat content in genome sequences of inducer and non-inducer lines. Here I describe Polyphemus, a novel Tc1-like DNA transposon, which is abundant in the inducer strain of D. virilis but highly degraded in the non-inducer strain. Polyphemus expression is also increased in the germline of progeny of the dysgenic cross relative to reciprocal progeny. Interestingly, like the Penelope element, it has experienced recent re-activation within the D. virilis lineage. Here I present the results of a comprehensive search to identify additional factors that may cause hybrid dysgenesis in D. virilis. Polyphemus, a novel Tc1-like DNA transposon, has recently become re-activated in Drosophila virilis and likely contributes to the hybrid dysgenesis syndrome. It has been previously shown that the Penelope element has also been re-activated in the inducer strain. This suggests that TE co-reactivation within species may synergistically contribute to syndromes of hybrid dysgenesis.

  1. Whole genome sequencing in Drosophila virilis identifies Polyphemus, a recently activated Tc1-like transposon with a possible role in hybrid dysgenesis

    Science.gov (United States)

    2014-01-01

    Background Hybrid dysgenic syndromes in Drosophila have been critical for characterizing host mechanisms of transposable element (TE) regulation. This is because a common feature of hybrid dysgenesis is germline TE mobilization that occurs when paternally inherited TEs are not matched with a maternal pool of silencing RNAs that maintain transgenerational TE control. In the face of this imbalance TEs become activated in the germline and can cause F1 sterility. The syndrome of hybrid dysgenesis in Drosophila virilis was the first to show that the mobilization of one dominant TE, the Penelope retrotransposon, may lead to the mobilization of other unrelated elements. However, it is not known how many different elements contribute and no exhaustive search has been performed to identify additional ones. To identify additional TEs that may contribute to hybrid dysgenesis in Drosophila virilis, I analyzed repeat content in genome sequences of inducer and non-inducer lines. Results Here I describe Polyphemus, a novel Tc1-like DNA transposon, which is abundant in the inducer strain of D. virilis but highly degraded in the non-inducer strain. Polyphemus expression is also increased in the germline of progeny of the dysgenic cross relative to reciprocal progeny. Interestingly, like the Penelope element, it has experienced recent re-activation within the D. virilis lineage. Conclusions Here I present the results of a comprehensive search to identify additional factors that may cause hybrid dysgenesis in D. virilis. Polyphemus, a novel Tc1-like DNA transposon, has recently become re-activated in Drosophila virilis and likely contributes to the hybrid dysgenesis syndrome. It has been previously shown that the Penelope element has also been re-activated in the inducer strain. This suggests that TE co-reactivation within species may synergistically contribute to syndromes of hybrid dysgenesis. PMID:24555450

  2. Pure XY gonadal dysgenesis and agenesis in monozygotic twins.

    Science.gov (United States)

    Chen, Hui-Yu; Huang, Hong-Yuan; Chang, Ting-Chang; Lai, Chyong-Huey; Soong, Yung-Kuei

    2006-04-01

    To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. Case report. University tertiary hospital. Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma. Blood samples were obtained for karyotyping and short tandem repeat polymorphism analysis (10 markers). Both patients underwent gonadectomy. Both sisters are well at time of report after gonadectomy for the sister with dysgerminoma and diagnostic laparoscope for the other. Dysgerminoma and atrophic ovarian stromal and tubal structures. Monozygotic twins can have discordant gonadal dysgenesis even though they are identical genetically.

  3. [46 XY gonadal dysgenesis and dysgerminoma (author's transl)].

    Science.gov (United States)

    Ausín, J; Cavallé, L; Márquez, M; González-Merlo, J

    1980-01-01

    A patient with gonadal dysgenesis, cariotype 46 XY and female biotype is presented. The histological study confirmed the presence of a dysgerminoma in the left gonad. The features of the cases are discussed.

  4. The genetics of XX gonadal dysgenesis

    Energy Technology Data Exchange (ETDEWEB)

    Aittomaeki, K. (Univ. of Helsinki (Finland))

    1994-05-01

    In a nationwide population-based study of women born between 1950 and 1976, 75 patients with XX gonadal dysgenesis (XXGD) were identified in Finland. Patients were ascertained through hospital records and the registers of chromosome laboratories. In one family 4 daughters were affected; in six families 2 daughters were affected; and 57 cases were isolated. In one additional family the two affected females were in successive generations. Population records were utilized to trace ancestors of patients back to the beginning of the 19th century, in most cases. Consanguinity was detected in 8 (12%) of 66 families. When females only are considered, the segregation analyses yield a proportion of .23 affected. The relatively large number of affected individuals identified (incidence 1 in 8,300 live-born girls) implies a high gene frequency in the Finnish population. The geographic distribution was highly uneven, with most families originating in the sparsely populated north-central part of Finland. These findings support the existence of an autosomal recessive (XXGD) gene (locus designation [open quotes]ODG1[close quotes]) that is highly enriched in Finland. The multiplex families already identified will make it possible to map the ODG1 gene by a random search for linkage by using polymorphic markers. Linkage-disequilibrium analysis in the sporadic patients will then be used to test for genetic homogeneity versus heterogeneity. 27 refs., 3 figs.

  5. Environmental influences on ovarian dysgenesis - developmental windows sensitive to chemical exposures.

    Science.gov (United States)

    Johansson, Hanna Katarina Lilith; Svingen, Terje; Fowler, Paul A; Vinggaard, Anne Marie; Boberg, Julie

    2017-07-01

    A woman's reproductive health and ability to have children directly affect numerous aspects of her life, from personal well-being and socioeconomic standing, to morbidity and lifespan. In turn, reproductive health depends on the development of correctly functioning ovaries, a process that starts early during fetal life. Early disruption to ovarian programming can have long-lasting consequences, potentially manifesting as disease much later in adulthood. A growing body of evidence suggests that exposure to chemicals early in life, including endocrine-disrupting chemicals, can cause a range of disorders later in life, such as those described in the ovarian dysgenesis syndrome hypothesis. In this Review, we discuss four specific time windows during which the ovary is particularly sensitive to disruption by exogenous insults: gonadal sex determination, meiotic division, follicle assembly and the first wave of follicle recruitment. To date, most evidence points towards the germ cell lineage being the most vulnerable to chemical exposure, particularly meiotic division and follicle assembly. Environmental chemicals and pharmaceuticals, such as bisphenols or mild analgesics (including paracetamol), can also affect the somatic cell lineages. This Review summarizes our current knowledge pertaining to environmental chemicals and pharmaceuticals, and their potential contributions to the development of ovarian dysgenesis syndrome. We also highlight knowledge gaps that need addressing to safeguard female reproductive health.

  6. Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.

    Science.gov (United States)

    Aktas, Dilek; Alikasifoglu, Mehmet; Gonc, Nazli; Senocak, Mehmet E; Tuncbilek, Ergul

    2006-01-01

    Among the structural abnormalities affecting the human Y chromosome, dicentric chromosomes are the most common. A wide spectrum of phenotypes of patients with a dicentric Y chromosome exists, ranging from almost males through mixed gonadal dysgenesis to females with Turner syndrome. Here, we describe an infant with mixed gonadal dysgenesis and mosaic karyotype 45,X/46,X,idic(Y)(qter-->p11.32:p11.32-->qter)/47,X,+2idic(Y) (qter-->p11.32:p11.32-->qter)/47,XYY. This was demonstrated by fluorescence in situ hybridization (FISH) analysis with whole Y chromosome painting (WCP-Y) probe. Molecular studies were performed on genomic DNA extracted from peripheral blood lymphocytes. To examine the sex determined region (SRY), azoospermia factor (AZF) region and deletion in azoospermia gene (DAZ), polymerase chain reaction (PCR) analyses were done with sequence-tagged site (STS) primers of 20 loci along the Y chromosome (SRY, DYS271, DYS148, DYS273, KALY, DYS212, SMCY, DYS215, DYS218, DYS219, DYS221, DYS223, DYS224, DYF51S1, DYS236, DAZ, DYS240), and all tested loci were found positive. Because of the possibility of a mutation in the SRY gene, we analyzed the PCR fragment by DNA sequencing and did not observe any mutation or nucleotide alteration. We present detailed molecular-cytogenetic characterization of a patient with idic(Y)(p11.32), and results are discussed with the previously described patients. As far as we know, this is the fifth report of a 46,X, idic(Y)(p11.32) karyotype and the first presentation with mixed gonadal dysgenesis and isodicentric Y. Since the correlation between phenotype and karyotype is not yet well defined, the clinical reports will be helpful in defining the phenotypic range of this chromosomal abnormality.

  7. MIXED GONADAL DYSGENESIS IN A SEVEN MONTH OLD BABY

    Directory of Open Access Journals (Sweden)

    Made Ayu Krishna Levina

    2015-01-01

    Full Text Available Mixed gonadal dysgenesis is a very rare case with genital ambiguity as a clinical manifestation.Diagnosis of this condition is emerging due to proper gender assignment and  prompt treatment toachieve optimal physical and psychologic development. We reported a genital ambigous in a 7 month old baby, who was referred with enlargement of clitoris, an unpalpable testis, but with a highconcentration testosteron serum level, an uterus from genitography, and a mosaic karyotype 45,X/46,XY. The working diagnosis of this baby is mixed gonadal dysgenesis. Patients is being evaluated by a multidisciplinary team and planned having laparoscopy.  [MEDICINA 2014;45:52-57

  8. Paternal Induction of Hybrid Dysgenesis in Drosophila melanogaster Is Weakly Correlated with Both P-Element and hobo Element Dosage

    Directory of Open Access Journals (Sweden)

    Satyam P. Srivastav

    2017-05-01

    Full Text Available Transposable elements (TEs are virtually ubiquitous components of genomes, yet they often impose significant fitness consequences on their hosts. In addition to producing specific deleterious mutations by insertional inactivation, TEs also impose general fitness costs by inducing DNA damage and participating in ectopic recombination. These latter fitness costs are often assumed to be dosage-dependent, with stronger effects occurring in the presence of higher TE copy numbers. We test this assumption in Drosophila melanogaster by considering the relationship between the copy number of two active DNA transposons, P-element and hobo element, and the incidence of hybrid dysgenesis, a sterility syndrome associated with transposon activity in the germline. By harnessing a subset of the Drosophila Genetic Reference Panel (DGRP, a group of fully-sequenced D. melanogaster strains, we describe quantitative and structural variation in P-elements and hobo elements among wild-derived genomes and associate these factors with hybrid dysgenesis. We find that the incidence of hybrid dysgenesis is associated with both P-element and hobo element copy number in a dosage-dependent manner. However, the relationship is weak for both TEs, suggesting that dosage alone explains only a small part of TE-associated fitness costs.

  9. Ascus dysgenesis in hybrid crosses of Neurospora and Sordaria ...

    Indian Academy of Sciences (India)

    2017-07-04

    Jul 4, 2017 ... Home; Journals; Journal of Genetics; Volume 96; Issue 3. Ascus dysgenesis in hybrid ... Review Article Volume 96 Issue 3 July 2017 pp 457-463 ... Evidently, in hybrid crosses of the family Sordariaceae, ascospore partitioning can be delayed until after one or more mitoses following the postmeiotic mitosis.

  10. Spinal segmental dysgenesis | Mahomed | SA Journal of Radiology

    African Journals Online (AJOL)

    Spinal segmental dysgenesis is a rare congenital spinal abnormality seen in neonates and infants, in which a segment of the spine and spinal cord fails to develop normally. The condition is segmental in nature, with vertebrae above and below the malformation. It is commonly associated with various abnormalities that ...

  11. Testicular microlithiasis in two boys with a chromosomal abnormality

    NARCIS (Netherlands)

    Goede, J.; Hack, W.W.M.; Pierik, F.H.

    2012-01-01

    A nine and 13-year-old boy, previously diagnosed with 18q syndrome and an 11q deletion, respectively were diagnosed with testicular microlithiasis (TM). Both cases demonstrate that TM occurs in patients with various chromosomal abnormalities.

  12. Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development

    DEFF Research Database (Denmark)

    Jørgensen, Anne; Lindhardt Johansen, Marie; Juul, Anders

    2015-01-01

    spermatogenesis or oogenesis. This tightly controlled process depends on the proper sequential expression of many genes and signalling pathways. Disturbances of this process can be manifested as a large spectrum of disorders, ranging from severe disorders of sex development (DSD) to - in the genetic male - mild...

  13. Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs.

    Science.gov (United States)

    Hamoudi, Hassan; Rudnick, Jens-Christian; Prause, Jan U; Tauscher, Kerstin; Breithaupt, Angele; Teifke, Jens P; Heegaard, Steffen

    2013-07-01

    Two sibling snow leopards, a male and a female, with bilateral anterior segment dysgenesis (ASD), are reported. Both snow leopards also had colobomas of both upper eyelids. All eyes exhibited a central corneal opacity associated with a defect in posterior corneal stroma, endothelium and Descemet's membrane. Iris strands were present attached to the termination of Descemet's membrane and to the periphery of the posterior corneal defect. The iris was hypoplastic, and cataract was present in all four eyes. The left eye of the female was microphthalmic, with no trabecular meshwork and with persistent remnant of the hyaloid artery. The male had hydrocephalus and thus some of the features of Peters' plus syndrome (Peters' anomaly in addition to systemic malformations). The histological findings in the eyes of these snow leopard siblings are identical with those described in humans with Peters' anomaly. © 2012 American College of Veterinary Ophthalmologists.

  14. Chemotherapy refractory testicular germ cell tumor is associated with a variant in Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF

    Directory of Open Access Journals (Sweden)

    Chunkit eFung

    2012-12-01

    Full Text Available Introduction: There is evidence that inherited genetic variation affects both testicular germ cell tumor (TGCT treatment outcome and risks of late-complications arising from cisplatin-based chemotherapy. Using a candidate gene approach, we examined associations of three genes involved in the cisplatin metabolism pathway, GSTP1, COMT, and TPMT, with TGCT outcome and cisplatin-induced neurotoxicity. Material and Methods: Our study population includes a subset of patients (n=137 from a genome-wide association study at the University of Pennsylvania that evaluates inherited genetic susceptibility to TGCT. All patients in our study had at least one course of cisplatin-based chemotherapy with at least one year of follow up. A total of 90 markers in GSTP1, COMT and TPMT and their adjacent genomic regions (± 20 kb were analyzed for associations with refractory TGCT after first course of chemotherapy, progression-free survival (PFS, overall survival (OS, peripheral neuropathy, and ototoxicity. Results: After adjustment for multiple comparisons, one SNP, rs2073743, in the flanking region (± 20 kb of COMT was associated with refractory TGCT after initial chemotherapy. This SNP lies within the intron region of the Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF. The G allele of rs2073743 predisposed patients to refractory disease with a relative risk of 2.6 (95% CI 1.1, 6.3; P=0.03. Assuming recessive inheritance, patients with the GG genotype had 22.7 times higher risk (95% CI 3.3, 155.8; P=0.04 of developing refractory disease when compared to those with the GC or CC genotypes. We found no association of our candidate genes with peripheral neuropathy, ototoxicity, PFS and OS. Discussion: This is the first study to suggest that germline genetic variants of ARVCF may affect TGCT outcome. The result of this study is hypothesis generating and should be validated in future studies.

  15. Tata Laksana Kasus Perempuan dengan Pure Gonadal Dysgenesis 46, XY (Sindrom Swyer

    Directory of Open Access Journals (Sweden)

    Kanadi Sumapradja

    2016-06-01

    Full Text Available Disorders of sex development (DSD adalah kelainan medis yang dikaitkan dengan ketidakcocokan antara kromosom, gonad dan fenotip. Sindrom Swyer adalah kelainan berupa disgenesis gonad 46,XY dan diikuti dengan tidak terjadinya pelepasan anti-mullerian hormone (AMH dari gonad yang mengalami disgenesis sehingga mengakibatkan berkembangnya duktus muller menjadi uterus. Keadaan tersebut mengakibatkan pasien mengeluh amenorea primer dan organ seks sekunder tidak berkembang. Orientasi gender umumnya adalah sebagai perempuan, karena kurangnya paparan hormon androgen terhadap otak. Tatalaksana kasus Disorders of sex development (DSD sangat mementingkan pasien (patient-centered sehingga tatalaksana medikamentosa maupun pembedahan harus berdasarkan pemahaman pasien terhadap orientasi gendernya. Pada makalah ini dilaporkan kasus sindrom swyer pada seorang perempuan usia 29 tahun dengan keluhan amenorea primer. Hasil analisis kromosom 46,XY (20 metafase dengan hormon follicle stimulating hormone (FSH 31.5miu/ml, luteinizing hormone (LH 10.8miu/ml, estradiol (E2 <5pg/ml, testosteron total (T <0.0025ng/ml. Tatalaksana medikamentosa adalah memberikan terapi hormon estrogen untuk membantu proses feminisasi. Karena risiko tinggi terjadinya tumor pada kasus disgenesis gonad intra-abdomen dengan kromosom Y, maka direncanakan tindakan gonadektomi. Kata kunci: Tatalaksana, Sindrom Swyer, pure gonadal dysgenesis Case Management of Pure Gonadal Dysgenesis 46, XY (Sindrom Swyer Abstract Disorders of sex development (DSD are medical conditions in which the development of chromosomal, gonadal or anatomic sex varies from normal and may be incongruent with each other. Swyer syndrome is a condition caused by pure gonadal dysgenesis 46,XY, which followed by inadequate anti-mullerian (AMH production results in maintenance and further development of mullerian duct into uterus. Therefore, many patients who suffer from this condition initially come with chief complaint of primary

  16. An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.

    Science.gov (United States)

    Çatlı, Gönül; Alparslan, Caner; Can, P Şule; Akbay, Sinem; Kelekçi, Sefa; Atik, Tahir; Özyılmaz, Berk; Dündar, Bumin N

    2015-06-01

    46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.

  17. Guidelines on testicular cancer

    NARCIS (Netherlands)

    Albers, Peter; Albrecht, Walter; Algaba, Ferran; Bokemeyer, Carsten; Cohn-Cedermark, Gabriella; Horwich, Alan; Klepp, Olbjoern; Laguna, M. Pilar; Pizzocaro, Giorgio

    2005-01-01

    To up-date the 2001 version of the EAU testicular cancer guidelines. A non-structured literature review until January 2005 using the MEDLINE database has been performed. Literature has been classified according to evidence-based medicine levels. Testicular cancer is a highly curable disease.

  18. Intermittent Testicular Torsion

    African Journals Online (AJOL)

    2017-12-05

    Dec 5, 2017 ... Objective: The aim of this study is to highlight the clinical characteristics of patients with intermittent testicular torsion and draw attention to this underreported condition. Methods: Clinical and demographic data of all patients treated for intermittent testicular torsion from January 2007 to June 2015 were ...

  19. Penelope, a new family of transposable elements and its possible role in hybrid dysgenesis in Drosophila virilis

    Science.gov (United States)

    Evgen’ev, Michael B.; Zelentsova, Helena; Shostak, Natalia; Kozitsina, Marina; Barskyi, Victor; Lankenau, Dirk-Henner; Corces, Victor G.

    1997-01-01

    A hybrid dysgenesis syndrome occurs in Drosophila virilis when males from an established laboratory strain are crossed to females obtained from the wild, causing the simultaneous mobilization of several different transposable elements. The insertion sequence responsible for the mutant phenotype of a dysgenic yellow allele has been characterized and named Penelope. In situ hybridization and Southern analyses reveal the presence of more than 30 copies of this element in the P-like parental strain, whereas Penelope is absent in all M-like strains tested. Penelope contains one 2.5-kb-long ORF that could encode products with homology to integrase and reverse transcriptase. Northern analysis and whole-mount in situ hybridization show strong induction of a 2.6-kb RNA in the ovaries of dysgenic females that is expressed at very low levels in the parental strains or in the progeny from the reciprocal cross. Injection of Penelope-containing plasmids into preblastoderm embryos of an M-like strain results in mutant progeny caused by insertion of Ulysses and perhaps other transposons, suggesting that Penelope expression might be responsible for the observed dysgenesis syndrome and the simultaneous mobilization of other transposable elements. PMID:8990185

  20. Testicular torsion repair

    Science.gov (United States)

    ... male growth, sex life, and fertility. Patient Instructions Surgical wound care - open Images Male reproductive anatomy Testicular torsion repair - series References ... of the testes and scrotum and their surgical management. In: Wein AJ, ed. Campbell-Walsh Urology . ...

  1. A novel mouse model of anterior segment dysgenesis (ASD: conditional deletion of Tsc1 disrupts ciliary body and iris development

    Directory of Open Access Journals (Sweden)

    Anna-Carin Hägglund

    2017-03-01

    Full Text Available Development of the cornea, lens, ciliary body and iris within the anterior segment of the eye involves coordinated interaction between cells originating from the ciliary margin of the optic cup, the overlying periocular mesenchyme and the lens epithelium. Anterior segment dysgenesis (ASD encompasses a spectrum of developmental syndromes that affect these anterior segment tissues. ASD conditions arise as a result of dominantly inherited genetic mutations and result in both ocular-specific and systemic forms of dysgenesis that are best exemplified by aniridia and Axenfeld–Rieger syndrome, respectively. Extensive clinical overlap in disease presentation amongst ASD syndromes creates challenges for correct diagnosis and classification. The use of animal models has therefore proved to be a robust approach for unravelling this complex genotypic and phenotypic heterogeneity. However, despite these successes, it is clear that additional genes that underlie several ASD syndromes remain unidentified. Here, we report the characterisation of a novel mouse model of ASD. Conditional deletion of Tsc1 during eye development leads to a premature upregulation of mTORC1 activity within the ciliary margin, periocular mesenchyme and lens epithelium. This aberrant mTORC1 signalling within the ciliary margin in particular leads to a reduction in the number of cells that express Pax6, Bmp4 and Msx1. Sustained mTORC1 signalling also induces a decrease in ciliary margin progenitor cell proliferation and a consequent failure of ciliary body and iris development in postnatal animals. Our study therefore identifies Tsc1 as a novel candidate ASD gene. Furthermore, the Tsc1-ablated mouse model also provides a valuable resource for future studies concerning the molecular mechanisms underlying ASD and acts as a platform for evaluating therapeutic approaches for the treatment of visual disorders.

  2. A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development.

    Science.gov (United States)

    Hägglund, Anna-Carin; Jones, Iwan; Carlsson, Leif

    2017-03-01

    Development of the cornea, lens, ciliary body and iris within the anterior segment of the eye involves coordinated interaction between cells originating from the ciliary margin of the optic cup, the overlying periocular mesenchyme and the lens epithelium. Anterior segment dysgenesis (ASD) encompasses a spectrum of developmental syndromes that affect these anterior segment tissues. ASD conditions arise as a result of dominantly inherited genetic mutations and result in both ocular-specific and systemic forms of dysgenesis that are best exemplified by aniridia and Axenfeld-Rieger syndrome, respectively. Extensive clinical overlap in disease presentation amongst ASD syndromes creates challenges for correct diagnosis and classification. The use of animal models has therefore proved to be a robust approach for unravelling this complex genotypic and phenotypic heterogeneity. However, despite these successes, it is clear that additional genes that underlie several ASD syndromes remain unidentified. Here, we report the characterisation of a novel mouse model of ASD. Conditional deletion of Tsc1 during eye development leads to a premature upregulation of mTORC1 activity within the ciliary margin, periocular mesenchyme and lens epithelium. This aberrant mTORC1 signalling within the ciliary margin in particular leads to a reduction in the number of cells that express Pax6, Bmp4 and Msx1 Sustained mTORC1 signalling also induces a decrease in ciliary margin progenitor cell proliferation and a consequent failure of ciliary body and iris development in postnatal animals. Our study therefore identifies Tsc1 as a novel candidate ASD gene. Furthermore, the Tsc1-ablated mouse model also provides a valuable resource for future studies concerning the molecular mechanisms underlying ASD and acts as a platform for evaluating therapeutic approaches for the treatment of visual disorders. © 2017. Published by The Company of Biologists Ltd.

  3. Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis

    Directory of Open Access Journals (Sweden)

    Mouna Feki Mnif

    2013-01-01

    Full Text Available Background: Congenital adrenal hyperplasia (CAH is an inherited recessive disorder of adrenal steroidogenesis. The enzymes most commonly affected are 21-hydroxylase. Past reports suggested brain magnetic resonance imaging (MRI abnormalities in CAH patients, affecting white matter signal, temporal lobe and amygdala structure and function. Aims: In the present study, we aimed to investigate the frequency of white matter changes and temporal lobes structures dysgenesis in a population of patients having CAH due to 21-hydroxylase deficiency. Materials and Methods: Neurological examination and brain MRI were performed in 26 patients. Results: Neurological examination revealed mental retardation in three patients, tremor in two patients, tendon reflexes asymmetry in one patient, and cerebellar syndrome in one patient. Eleven patients (42.3% showed MRI abnormalities: Eight of them had white matter hyperintensities, one patient had moderate atrophy in the right temporal, and hippocampal dysgenesis was found in the remaining two patients. Conclusions: Brain MRI abnormalities in CAH patients include white matter hyperintensities and temporal lobe structures dysgenesis. The mechanisms involved seem related to hormonal imbalances during brain development and exposure to excess exogenous glucocorticoids. Clinical implications of such lesions remain unclear. More extensive studies are required to define better the relationships between brain involvement and different CAH phenotypes and treatment regimens.

  4. A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.

    Science.gov (United States)

    Gimelli, Giorgio; Giorda, Roberto; Beri, Silvana; Gimelli, Stefania; Zuffardi, Orsetta

    2006-01-01

    Cytogenetic analysis of a young woman with gonadal dysgenesis and bilateral gonadoblastoma shared a male karyotype with a rearranged Y chromosome, interpreted as a pericentric inversion. The breakpoints, defined by fluorescent in situ hybridization (FISH), were located on the very distal short arm on band Yp11.31 and in the middle of the Yq12 long arm heterochromatic region. FISH analysis documented that the short arm breakpoint was 93 Kb distal to SRY and disrupted the CD99 gene, which was transposed to the distal portion of Yq12. The proposita's phenotype was similar to that of XY individuals with gonadal dysgenesis but without signs of Ullrich-Turner syndrome. There were no mutations in the SRY gene. Cytogenetic analysis in the proposita's father showed mosaicism of a normal Y chromosome and several different rearrangements, such as deletion of a heterochromatin portion at band Yq12.2, a fragile site at the same band, structural rearrangements between the Y-chromosome and other autosomes, Y-chromosome aneuploidies, and "Premature Centromere Division" (PCD) anomaly. The proposita's inverted Y chromosome appears to have originated from paternal Y chromosome instability. The patient's female phenotype could be due to SRY CpG methylation-mediated positional effects (PEV). (c) 2005 Wiley-Liss, Inc.

  5. Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype

    Science.gov (United States)

    Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Hasegawa, Yukihiro; Morison, Ian M.

    2015-01-01

    Abstract Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program. The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (χ2 test, P < 0.001). SRY expression was absent in approximately 10% of precursor granulosa cells (FOXL2 positive) and precursor Sertoli/granulosa cells (both SOX9 and FOXL2 positive) within gonadoblastomas, confirming the involvement of 45,X cells. A combination of analysis of FISH and immunofluorescence for SRY in the gonadal tissue could identify 45,X cells in MGD with 46,XY. PMID:25860218

  6. Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.

    Science.gov (United States)

    Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Hasegawa, Yukihiro; Morison, Ian M

    2015-04-01

    Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program. The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (χ2 test, P < 0.001). SRY expression was absent in approximately 10% of precursor granulosa cells (FOXL2 positive) and precursor Sertoli/granulosa cells (both SOX9 and FOXL2 positive) within gonadoblastomas, confirming the involvement of 45,X cells. A combination of analysis of FISH and immunofluorescence for SRY in the gonadal tissue could identify 45,X cells in MGD with 46,XY.

  7. Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.

    Science.gov (United States)

    Norling, Ameli; Lindén Hirschberg, Angelica; Iwarsson, Erik; Persson, Bengt; Wedell, Anna; Barbaro, Michela

    2013-12-01

    Half of all patients with a disorder of sex development (DSD) do not receive a specific molecular diagnosis. Comparative genomic hybridization (CGH) can detect copy number changes causing gene haploinsufficiency or over-expression that can lead to impaired gonadal development and gonadal DSD. The purpose of this study was to identify novel candidate genes for 46,XY gonadal dysgenesis (GD) using a customized 1 M array-CGH platform with whole-genome coverage and probe enrichment targeting 78 genes involved in sex development. Fourteen patients with 46,XY gonadal DSD were enrolled in the study. Nine individuals were analyzed by array CGH. All patients were included in a follow up sequencing study of candidate genes. Three novel candidate regions for 46,XY GD were identified in two patients. An interstitial duplication of the SUPT3H gene and a deletion of C2ORF80 were detected in a pair of affected siblings. Sequence analysis of these genes in all patients revealed no additional mutations. A large duplication highlighting PIP5K1B, PRKACG and FAM189A2 as candidates for 46,XY GD, were also detected. All five genes are expressed in testicular tissues, and one is shown to cause gonadal DSD in mice. However detailed functional information is lacking for these genes. Copyright © 2013 The Authors. Published by Elsevier Masson SAS.. All rights reserved.

  8. Testicular calculus: A rare case.

    Science.gov (United States)

    Sen, Volkan; Bozkurt, Ozan; Demır, Omer; Tuna, Burcin; Yorukoglu, Kutsal; Esen, Adil

    2015-01-01

    Testicular calculus is an extremely rare case with unknown etiology and pathogenesis. To our knowledge, here we report the third case of testicular calculus. A 31-year-old man was admitted to our clinic with painful solid mass in left testis. After diagnostic work-up for a possible testicular tumour, he underwent inguinal orchiectomy and histopathologic examination showed a testicular calculus. Case hypothesis: Solid testicular lesions in young adults generally correspond to testicular cancer. Differential diagnosis should be done carefully. Future implications: In young adults with painful and solid testicular mass with hyperechogenic appearance on scrotal ultrasonography, testicular calculus must be kept in mind in differential diagnosis. Further reports on this topic may let us do more clear recommendations about the etiology and treatment of this rare disease.

  9. Inguinal metastases from testicular cancer

    DEFF Research Database (Denmark)

    Daugaard, Gedske; Karas, Vladimir; Sommer, Peter

    2006-01-01

    To evaluate the incidence of inguinal metastases in patients with testicular cancer and relapse after initial stage I disease.......To evaluate the incidence of inguinal metastases in patients with testicular cancer and relapse after initial stage I disease....

  10. Transverse testicular ectopia, a case report and review of literature

    Directory of Open Access Journals (Sweden)

    Moslemi, Mohammad Kazem

    2011-01-01

    Full Text Available Crossed testicular ectopia (CTE/transverse testicular ectopia (TTE is a rare but well known congenital anomaly, in which both gonads migrate toward the same hemiscrotum. It is usually associated with other abnormalities such as persistent Mullerian duct syndrome, true hermaphroditism, inguinal hernia, hypospadias, pseudohermaphroditism, and scrotal anomalies. About 100 cases of transverse testicular ectopia have been reported in published studies. We report a case of transverse testicular ectopia in an 8-month-old boy who presented with right inguinal hernia and nonpalpable left testis. On exploration, both testes were present in the right inguinal region. Bilateral orchiopexy was performed by crossing the left testis in the extra-peritoneal space and ipsilateral scrotal orchiopexy. The diagnosis could not be made preoperatively in most of reported cases.

  11. Varicocele and testicular function

    Directory of Open Access Journals (Sweden)

    Alexander W Pastuszak

    2015-01-01

    Full Text Available Testicular varicocele, a dilation of the veins of the pampiniform plexus thought to increase testicular temperature via venous congestion, is commonly associated with male infertility. Significant study has clarified the negative impact of varicocele on semen parameters and more recent work has shed light on its detrimental effects on the molecular and ultrastructural features of sperm and the testicular microenvironment, as well as more clearly defined the positive impacts of treatment on couples′ fertility. The relationship between varicocele and testicular endocrine function, while known for some time based on histologic evaluation, has become more apparent in the clinical setting with a growing link between varicocele and hypogonadism. Finally, in the pediatric setting, while future study will clarify the impact of varicocele on fertility and testicular function, recent work supports a parallel effect of varicocele in adolescents and adults, suggesting a re-evaluation of current treatment approaches in light of the progressive nature of the condition and potential increased risk of future disease.

  12. Ovarian dysgenesis in an alpaca with a minute chromosome 36.

    Science.gov (United States)

    Fellows, Elizabeth; Kutzler, Michelle; Avila, Felipe; Das, Pranab J; Raudsepp, Terje

    2014-01-01

    A 4-year-old female alpaca (Lama pacos [LPA]) was presented to the Oregon State Veterinary Teaching Hospital for failure to display receptive behavior to males. Although no abnormalities were found on physical examination, transrectal ultrasonographic examination of the reproductive tract revealed uterine hypoplasia and ovarian dysgenesis. Cytogenetic analysis demonstrated a normal female 74,XX karyotype with 1 exceptionally small (minute) homologue of autosome LPA36. Chromosome analysis by Giemsa staining and DAPI- and C-banding revealed that the minute LPA36 was submetacentric, AT-rich, and largely heterochromatic. Because of the small size and lack of molecular markers, it was not possible to identify the origin of the minute. There is a need to improve molecular cytogenetic tools to further study the phenomenon of this minute chromosome and its relation to female reproduction in alpacas and llamas. © The American Genetic Association. 2012. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  13. [The diagnosis, treatment and following up of 7 patients with 45, X/46, XY mixed gonadal dysgenesis].

    Science.gov (United States)

    Chen, Guang; Dou, Jingtao; Yang, Guoqing; Gu, Weijun; Du, Jin; Chen, Kang; Zang, Li; Jin, Nan; Wang, Xianling; Yang, Lijuan; Lyu, Zhaohui; Ba, Jianming; Lu, Juming; Li, Jiangyuan; Pan, Changyu; Mu, Yiming

    2015-11-01

    To investigate the clinical features, therapeutic regimens and follow-up information of patients with 45, X/46, XY mixed gonadal dysgenesis in order to improve the diagnosis and treatment of the disease. We performed a retrospective review of patients with 45, X/46, XY mosaicism hospitalized in Chinese PLA General Hospital between 2000 and 2014. The clinical features,sex hormones,treatment and follow-up information were summarized. (1) Seven patients ranging 12-17 years old were diagnosed as having 45, X/46, XY mixed gonadal dysgenesis. Six of them had female sex of rearing and one had male. (2) All of them presented with short stature and growth retardation, and had similar specific somatic signs to Turner syndrome. (3) The external genitalia presented with a wide variety of phenotypes. One patient presented with male phenotype with hypospadia, one presented with clitoridauxe, and five presented with female phenotype. The masculinization scores for the external genitalia showed that five patients presented with female phenotype, one patient with mild undervirilization and one patient with ambiguous genitalia. (4) By surgical exploration and ultrasound, two patients were found with testes and one was with ovary-like gonads. No gonad could be detected in the other four patients. (5) Five patients were treated with recombinant human growth hormone (rhGH). Two patients received sex hormone replacement therapy with one patient taking testosterone, whose penis became enlarged and erect after treatment, and one taking artificial cycle. The patients with 45, X/46, XY mosaicism share similar specific somatic signs to Turner syndrome. The 45, X/46, XY mosaicism presents with a wide spectrum of phenotypes with the highest proportion of being genital ambiguity. RhGH, testosterone and artificial cycle can be used accordingly.

  14. Testicular germ cell tumors.

    Science.gov (United States)

    Diamantopoulos, N; Kortsaris, A

    2010-01-01

    Testicular cancer is the most frequent solid tumor in young male adults and a disease with elusive pathogenesis. Germ cell tumors represent 95% of all testicular cancers. There was an increasing incidence of testicular germ cell tumors during the second half of the 20th century. Despite their increased incidence, mortality is lower than 10% and the cure rate has reached 95%. Epidemiology of the disease shows remarkable geographic and racial variation. Known risk factors and the increased incidence during the last 50 years have led to the development of the two prevalent theories for the pathogenesis of the disease, Henderson theory and Rajpertde Meyts and Skakkebaek theory. Appropriate diagnosis and staging of the disease are crucial for successful management. Testicular ultrasound, CT scans, histological examination and serum tumor markers should be utilized in order to stratify the patient correctly. Treatment strategy is chosen according to the patient stage and prognostic group stratification. "Fine tuning" is needed in order to find the balance between treatment, cure and toxicity. Despite progress in therapeutic management, cure rates for poor risk patients do not exceed 50%. These patients should be encouraged to participate in clinical trials. Long-term toxicity of testicular germ cell tumors' treatment is also another issue that should be kept in mind during follow-up of these patients. This disease became the model of "curable" cancer and gave hope for cure of metastatic malignant diseases in general, as only 400 patients die from this disease in USA annually. More progress will be made only through well-designed clinical trials.

  15. Testicular Damage following Testicular Sperm Retrieval

    DEFF Research Database (Denmark)

    Fedder, Jens; Marcussen, Niels; Fedder, Maja D.K.

    2017-01-01

    The aim of this study was to evaluate the possible development of histological abnormalities such as fibrosis and microcalcifications after sperm retrieval in a ram model. Fourteen testicles in nine rams were exposed to open biopsy, multiple TESAs, or TESE, and the remaining four testicles were...... left unoperated on as controls. Three months after sperm retrieval, the testicles were removed, fixed, and cut into 1/2 cm thick slices and systematically put onto a glass plate exposing macroscopic abnormalities. Tissue from abnormal areas was cut into 3 μm sections and stained for histological...... evaluation. Pathological abnormalities were observed in testicles exposed to sperm retrieval (≥11 of 14) compared to 0 of 4 control testicles. Testicular damage was found independently of the kind of intervention used. Therefore, cryopreservation of excess sperm should be considered while retrieving sperm....

  16. Accuracy of Prader orchidometer in measuring testicular volume

    African Journals Online (AJOL)

    2012-10-21

    Oct 21, 2012 ... hypogonadism and Klinefelter's syndrome.[14‑17]. Over the years, many instruments have been used in an attempt to accurately, reliably, and conveniently measure the testicular volume in vivo. These include rulers, tapes, vernier callipers, orchidometer, graphic models, and ultrasound scan.[8‑22] Results.

  17. Testicular microlithiasis in two boys with a chromosomal abnormality

    Directory of Open Access Journals (Sweden)

    Joery Goede

    2012-01-01

    Full Text Available A nine and 13-year-old boy, previously diagnosed with 18q syndrome and an 11q deletion, respectively were diagnosed with testicular microlithiasis (TM. Both cases demonstrate that TM occurs in patients with various chromosomal abnormalities

  18. Skeletal and metabolic complications of testicular germ cell tumours.

    NARCIS (Netherlands)

    Willemse, Peter-Paul Michiel

    2014-01-01

    The studies described in this thesis were performed to investigate the short and long-term effects of chemotherapy on bone metabolism, fat metabolism and cardiovascular risk in testicular germ cell tumour (GCT) patients. We report a twofold increased prevalence of Metabolic Syndrome (MetS) in GCT

  19. Genetics Home Reference: 46,XX testicular disorder of sex development

    Science.gov (United States)

    ... area? Other Names for This Condition 46,XX sex reversal XX male syndrome XX sex reversal Related Information How are genetic conditions and genes ... 1 link) PubMed OMIM (1 link) 46,XX SEX REVERSAL 1 MedGen (1 link) 46,XX testicular disorder ...

  20. Testicular biopsy in prepubertal boys

    DEFF Research Database (Denmark)

    Faure, Alice; Bouty, Aurore; O'Brien, Mike

    2016-01-01

    No consensus exists regarding the precise role of testicular biopsy in prepubertal boys, although it is considered useful for assessing the potential consequences of undescended testes on fertility. Current scientific knowledge indicates that surgeons should broaden indications for this procedure...... for the preservation of fertility after gonadotoxic chemotherapy - even for prepubertal boys - are emerging. Cryopreservation of testicular tissue samples for the preservation of fertility - although still an experimental method at present - is appealing in this context. In our opinion, testicular biopsy...

  1. Transverse testicular ectopia with a blind ending vas deferens

    Directory of Open Access Journals (Sweden)

    Anjan Kumar Dhua

    2016-01-01

    Full Text Available Transverse testicular ectopia (TTE is an uncommon anomaly of testicular descent. Herein, we describe a case of TTE with blindly ending vas and persistent Mόllerian duct syndrome in a 2-year-old child. Orchidopexy could be done through the normal orthotopic route after separating it from the Mόllerian structure and dividing the peritoneal fold just distal to the blindly ending vas. The report highlights that laparoscopy is useful for identifying subtle anomalies in addition to its therapeutic role.

  2. Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature.

    Science.gov (United States)

    Hong, Chris J; Caulley, Lisa; Kohlert, Scott; Graham, Gail E; McMillan, Hugh J; Michaud, Jean; Vaccani, Jean-Philippe

    2016-07-01

    Trismus refers to any condition inducing limited mouth opening and may present as a result of acquired or congenital pathology. We present the case of a newborn who presented with severe, congenital trismus due to brainstem dysgenesis. We describe the course of his investigations, and a multidisciplinary approach to the management of his care and follow-up. To our knowledge, this is one of the earliest reported cases of congenital trismus attributable to brainstem dysgenesis. A literature review was conducted to provide an overview of the differential pathogenesis as it presents in congenital cases and discuss the complexity of managing congenital trismus due to brainstem dysgenesis in a neonate and infant. Copyright © 2016 by the American Academy of Pediatrics.

  3. Hernia uterine inguinale with transverse testicular ectopia and mixed germ cell tumor

    Directory of Open Access Journals (Sweden)

    Rajshekhar C Jaka

    2007-01-01

    Full Text Available Persistent mullerian duct syndrome is a rare disorder characterized by the presence of uterus and fallopian tube in 46XY phenotypic males and is ascribed to defects in the synthesis or action of anti-mullerian hormone. We report a rare case of hernia uterine inguinale, transverse testicular ectopia associated with mixed germ cell tumor of the testis with metastasis. Transverse testicular ectopia should be suspected preoperatively in patients who have unilateral inguinal hernia associated with contralateral nonpalpable testis. In such cases ultrasonography should be done prior to repair of hernia to evaluate the possible presence of mullerian structures and testicular malignancy, for better management.

  4. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

    DEFF Research Database (Denmark)

    Gribouval, Olivier; Morinière, Vincent; Pawtowski, Audrey

    2012-01-01

    Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuri...

  5. Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs

    DEFF Research Database (Denmark)

    Hamoudi, Hassan; Rudnick, Jens-Christian; Prause, Jan Ulrik

    2013-01-01

    Two sibling snow leopards, a male and a female, with bilateral anterior segment dysgenesis (ASD), are reported. Both snow leopards also had colobomas of both upper eyelids. All eyes exhibited a central corneal opacity associated with a defect in posterior corneal stroma, endothelium and Descemet...

  6. Gonadal Dysgenesis: Report of a Middle-Aged Patient with Un ...

    African Journals Online (AJOL)

    1971-12-11

    Dec 11, 1971 ... Gonadal Dysgenesis: Report of a Middle-Aged. Patient with ... in this case is thought to be the longest yet recorded in the literature. .... I have also seen a positive metacarpal sign in a single case of arthrogryposis multiplex congenita. Osteoporosis. This feature has been reported by several workers.H. ,,.

  7. Crossed testicular ectopia

    Directory of Open Access Journals (Sweden)

    Edward Esteves

    Full Text Available Crossed testicular ectopia (CTE is a rare anomaly, characterized by migration of one testis towards the opposite inguinal canal. Presented here is a case of crossed ectopia of the right testis, treated by extraperitoneal transposition of the gonad and right orchiopexy. Embriology and surgical findings suggest that CTE is a common consequence of many unclear ethiologic factors, specially mechanical ones, and can be associated with Muller duct persistence. Review of literature suggests a classification of CTE into 3 types: I - associated with inguinal hernia alone; II - associated with persistent mullerian remnants; III - associated with other anomalies without mullerian remnants. Treatment includes transeptal orchiopexy or extraperitoneal transposition of the testis, research for mullerian remnants and other anomalies, and long term postoperative follow-up, due to the risk of becoming malignant.

  8. Association between testicular microlithiasis, testicular cancer, cryptorchidism and history of ascending testis

    Directory of Open Access Journals (Sweden)

    Stamatiou Konstantinos

    2006-08-01

    Full Text Available OBJECTIVE: To prospectively determine the prevalence of testicular microlithiasis in symptomatic patients who were referred for scrotal ultrasound examination and to evaluate the possible association of testicular microlithiasis with testicular cancer and other conditions such as cryptorchidism or history of ascending testis. MATERIALS AND METHODS: 391 men who were referred to our institutions between July 2002 and May 2005 for any type of symptoms from the testicles, underwent physical and scrotal ultrasound examination. The presence of testicular microlithiasis, the number of lesions and the involvement of both testicles in relation to the symptoms as well as the coexistence of other lesions were studied. RESULTS: Eighteen (4.6% of 391 men enrolled into the study had testicular microlithiasis. Two out of the eighteen patients (11% had concomitant testicular cancer, which was confirmed by pathological evaluation of the orchidectomy specimen. One of the patients with testicular microlithiasis presented a rising in biochemical tumor markers (LDH, and HCG and underwent orchidectomy one year later. Five of the remaining 373 (1.3% patients without microlithiasis were diagnosed with testicular cancer. Thirty six men reported having a history of ascending testis, but none of them was found with testicular cancer. Two cases of testicular torsion in a cryptorchid position had testicular microlithiasis, but the orchidectomy specimen (after surgery was negative for testicular cancer. The correlation between testicular cancer and testicular microlithiasis found in our study was statistically significant (p < 0.05. CONCLUSION: There seems to be an association between testicular microlithiasis and testicular cancer.

  9. Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

    Science.gov (United States)

    Ucar, Sema Kalkan; Mayr, Johannes A; Feichtinger, René G; Canda, Ebru; Çoker, Mahmut; Wortmann, Saskia B

    2017-01-01

    Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19. To date DCMA syndrome has been reported in 19 patients from Canada and in two Finnish siblings. The underlying pathomechanism is unknown; however, DNAJC19 is presumed to be involved in mitochondrial membrane related processes (e.g., protein import and cardiolipin remodeling). Here, we report an additional patient with progressive cerebellar atrophy and white matter changes. A Turkish boy presented at age 2 months with dilated cardiomyopathy (initially worsening then stabilizing in the second year of life), growth failure, bilateral cryptorchidism, and facial dysmorphism. Mental and motor developmental were, respectively, moderately and severely delayed. Profound intentional tremor and dyskinesia, spasticity (particularly at the lower extremities), and dystonia were observed. Sensorineural hearing loss was also diagnosed. MRI showed bilateral basal ganglia signal alterations. Plasma lactate levels were increased, as was urinary excretion of 3-methylglutaconic acid. He deceased aged 3 years. Sanger Sequencing of DNAJC19 confirmed the clinical diagnosis of DNAJC19 defect by revealing the previously unreported homozygous stop mutation c.63delC (p.Tyr21*). Investigation of enzymes of mitochondrial energy metabolism revealed decreased activity of cytochrome c oxidase in muscle tissue. Sensorineural hearing loss and bilateral basal ganglia lesions are common symptoms of mitochondrial disorders. This is the first report of an association with DNAJC19 defect.

  10. Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.

    Science.gov (United States)

    De Sousa, Sunita M C; Kassahn, Karin S; McIntyre, Liam C; Chong, Chan-Eng; Scott, Hamish S; Torpy, David J

    2016-11-08

    The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was later questioned due to the presence of intact Müllerian structures. The clinical phenotype suggested several susceptibility genes including SRY, DHH, NR5A1, NR0B1, AR, AMH, and AMHR2. To study candidate genes simultaneously, we performed whole genome sequencing. This revealed a novel and likely pathogenic missense variant (p.Arg130Pro, c.389G>C) in SRY, one of the major genes implicated in complete gonadal dysgenesis, hence securing this condition over androgen insensitivity syndrome as the cause of the patient's disorder of sexual development. This case highlights the emerging clinical utility of whole genome sequencing as a tool in differentiating disorders of sexual development.

  11. [Testicular torsion: A case report].

    Science.gov (United States)

    García-Fernández, Gustavo; Bravo-Hernández, Alberto; Bautista-Cruz, Raúl

    The acute scrotum is an emergency. Testicular torsion represents approximately 25% of the causes. The annual incidence of testicular torsion is approximately 1/4,000 persons under 25 years, with highest prevalence between 12 and 18 years old. It usually occurs without apparent cause, but it has been associated with anatomical, traumatic, and environmental factors, among others. A male 15 year-old male, with no history of importance, was seen in the Emergency Department, presenting with a sudden and continuous pain in the left testicle. It was accompanied by a pain that radiated to the abdomen and left inguinal area, with nausea and vomiting of more than 12h onset. Doppler ultrasound showed changes suggestive of testicular torsion. Surgery was performed that showed findings of a necrotic left testicle with rotation of the spermatic cord of 360°. A left orchiectomy was performed. Testicular torsion should always be considered one of the leading causes of acute scrotal pain. Delays in diagnosis should be avoided as this is directly related to the percentage of testicular salvage or loss. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  12. Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

    OpenAIRE

    Mao, Mao; Kiss, M?rton; Ou, Yvonne; Gould, Douglas B.

    2017-01-01

    ABSTRACT Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Type IV collagen alpha 1 (COL4A1) is an extracellular matrix protein and a critical component ...

  13. Testicular torsion: A surgical emergency

    Energy Technology Data Exchange (ETDEWEB)

    Prater, J.M.; Overdorf, B.S. (Surgical Residency Program at Yale University, New Haven, CT (USA))

    1991-09-01

    Testicular torsion is caused by twisting of the spermatic cord, which results in compromised testicular blood flow. The degree of ischemic injury is determined by the severity of arterial compression and the interval between the onset of symptoms and surgical intervention. Torsion usually occurs at puberty, and an anatomic defect known as bell-clapper deformity is usually present. Typical symptoms include acute scrotal pain with associated nausea and vomiting. Up to one-half of patients report previous similar episodes. On examination, the testis is high-riding, tender, swollen and firm. Testicular scan or Doppler ultrasound examination can be helpful in distinguishing torsion from acute epididymitis. Prompt surgical treatment is indicated to reduce the torsion, and bilateral orchiopexy is performed to prevent recurrence. Exocrine function, as determined by semen analysis, is often abnormal after unilateral torsion. 25 references.

  14. Histopathological analysis of testicular tumors

    Directory of Open Access Journals (Sweden)

    S Karki

    2012-09-01

    Full Text Available Background: Testicular cancers are rare in most countries. However, in many western countries its incidence has been increasing since the middle of the twentieth century. A definite geographic and racial distribution is seen in testicular tumors. The purpose of the study was to analyze the pattern and distribution of testicular cancers in one of the hospital in Nepal.Materials and methods: This was a retrospective study, in which cases were retrieved from the computer database between September 2006 and August 2011 in the department of Pathology. Pertinent data like age and histopathology of tumor were collected from the surgical pathology reports.Results: Testicular tumors were uncommon, comprising only 11.4% (8/70 cases of all testicular lesions. Most of these tumors (50% were seen between 4th and 5th decades. Germ cell tumors were the commonest tumors (62.5%, among which seminomas and mixed germ cell tumors were most frequently encountered, two cases each. Thirty percent of the biopsies consisted of undescended testis and none of them showed malignancy. Other tumors diagnosed were Non Hodgkin Lymphoma, leukemic infiltration and metastasis.Conclusion: Testicular tumors are uncommon in our population. As evident in other parts of the world, germ cell tumor was common in this study as well. However, unlike in Western population, no tumor was seen in undescended testis.Journal of Pathology of Nepal (2012 Vol. 2, 301-304DOI: http://dx.doi.org/10.3126/jpn.v2i4.6883

  15. Testicular teratoma with nephroblastoma component.

    Science.gov (United States)

    Vanasupa, Bill P; Aaberg, Randal A; Sutherland, Ronald S

    2007-07-01

    We report the development of Wilms' tumor in an atrophic testis and review the potential molecular pathogenesis. An 18-year-old man presented with 2 days of right testicular pain and growth in his atrophic testis. Ultrasonography revealed a heterogeneous mass. The chest radiographic findings and testicular tumor marker levels were normal. He underwent radical orchiectomy, with the pathologic examination showing teratoma with a nephroblastoma component, focal embryonal carcinoma, and minute yolk sac tumor. The development of Wilms' tumor in the testis is rare and can be explained by the activation of the WT1 gene during embryogenesis.

  16. Testicular Descend, How and Why: A Review Article

    Directory of Open Access Journals (Sweden)

    Sujan Narayan Agrawal

    2017-08-01

    Full Text Available Background: The testis develops in the dorsal abdominal wall, and then descends to scrotum. The development begins as early as 6th week of intrauterine life and is completed by fifth month of intrauterine life. The testis may get arrested during its descent from dorsal abdominal wall to scrotum. The anomalies of descent includes cryptorchism (and its variant like anarchism, monarchism or partially descended testis, ectopic testis, persistent processus vaginalis and encysted hydrocoel of spermatic cord etc. Cryptorchism is usually diagnosed during the new born examination. The recognition of this condition, identification of associated syndromes, proper diagnostic evaluation and timely treatment by surgical urologist is important to prevent adverse consequences like sterility, congenital hernia & hydrocoel, testicular carcinoma etc. Objectives: the objective of this review is to study the role of gubernaculum in the testicular migration process. Material & Method: We performed a descriptive review of the literature about the role of the gubernaculum in testicular migration during the human fetal life. This article provides an overview of role of gubernaculum and other factors responsible for gonadal migration. Results: In the first phase of testicular migration the gubernaculum enlarges to hold the testis near groin and in the second phase the gubernaculum migrates across the pubic region to reach the scrotum. The proximal end of gubernaculum is attached to the testis and epididymis. The lower end reaches to bottom of scrotum. A failure in the proper functioning of gubernaculum causes cryptorchism. Rarely male gonads may deviate from main pathway due to presence of many tails of distal gubernaculum, and it may give rise to ectopic testis. The processus vaginalis usually closes by birth. If it remains patent, it leads to congenital hernia, hydrocoel, encysted hydrocoel etc. Conclusion: the gubernaculum presents a significant structure during

  17. Testicular torsion: Needless testicular loss can be prevented | Njeze ...

    African Journals Online (AJOL)

    Background: The risk of losing the testis is an ever present threat in patients with testicular torsion, who delay before presenting to the surgeon. A retrospective study was carried out to audit patients with acute scrotal pain who came to the Trans Ekulu Hospital Enugu, the promptness of offering them surgical treatment and ...

  18. Polygenic susceptibility to testicular cancer

    DEFF Research Database (Denmark)

    Litchfield, Kevin; Mitchell, Jonathan S; Shipley, Janet

    2015-01-01

    BACKGROUND: The increasing incidence of testicular germ cell tumour (TGCT) combined with its strong heritable basis suggests that stratified screening for the early detection of TGCT may be clinically useful. We modelled the efficiency of such a personalised screening approach, based on genetic r...

  19. Drugs Approved for Testicular Cancer

    Science.gov (United States)

    This page lists cancer drugs approved by the Food and Drug Administration (FDA) for testicular cancer. The list includes generic names, brand names, and common drug combinations, which are shown in capital letters. The drug names link to NCI's Cancer Drug Information summaries.

  20. Luteinizing hormone in testicular descent

    DEFF Research Database (Denmark)

    Toppari, Jorma; Kaleva, Marko M; Virtanen, Helena E

    2007-01-01

    alone is not sufficient for normal testicular descent. The regulation of androgen production is influenced both by placental human chorionic gonadotropin (hCG) and pituitary luteinizing hormone (LH). There is evidence that the longer pregnancy continues, the more important role pituitary LH may have...

  1. Testicular ultrasensitive Doppler preliminary experience: a feasibility study.

    Science.gov (United States)

    Rocher, Laurence; Gennisson, Jean-Luc; Ferlicot, Sophie; Criton, Aline; Albiges, Laurence; Izard, Vincent; Bellin, Marie France; Correas, Jean-Michel

    2018-03-01

    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.

  2. Acute and intermittent testicular torsion: Analysis of presentation ...

    African Journals Online (AJOL)

    Background: Testicular torsion compromises the blood supply to the testes and may result in testicular loss or damage if not dealt with promptly. It can occur either as acute testicular torsion (ATT) or intermittent testicular torsion (ITT). This study examines the presentation, management, and outcome of adult testicular torsion.

  3. Little effects of Insulin-like Growth Factor-I on testicular atrophy induced by hypoxia

    Directory of Open Access Journals (Sweden)

    Casares Amelia

    2006-02-01

    Full Text Available Abstract Background Insulin-like Growth Factor-I (IGF-I supplementation restores testicular atrophy associated with advanced liver cirrhosis that is a condition of IGF-I deficiency. The aim of this work was to evaluate the effect of IGF-I in rats with ischemia-induced testicular atrophy (AT without liver disease and consequently with normal serum level of IGF-I. Methods Testicular atrophy was induced by epinephrine (1, 2 mg/Kg intra-scrotal injection five times per week during 11 weeks. Then, rats with testicular atrophy (AT were divided into two groups (n = 10 each: untreated rats (AT receiving saline sc, and AT+IGF, which were treated with IGF-I (2 μg.100 g b.w.-1.day-1, sc. for 28d. Healthy controls (CO, n = 10 were studied in parallel. Animals were sacrificed on day 29th. Hypophyso-gonadal axis, IGF-I and IGFBPs levels, testicular morphometry and histopathology, immuno-histochemical studies and antioxidant enzyme activity phospholipid hydroperoxide glutathione peroxidase (PHGPx were assessed. Results Compared to controls, AT rats displayed a reduction in testicular size and weight, with histological testicular atrophy, decreased cellular proliferation and transferrin expression, and all of these alterations were slightly improved by IGF-I at low doses. IGF-I therapy increased signifincantly steroidogenesis and PHGPx activity (p Conclusion In testicular atrophy by hypoxia, condition without IGF-I deficiency, IGF-treatment induces only partial effects. These findings suggest that IGF-I therapy appears as an appropriate treatment in hypogonadism only when this is associated to conditions of IGF-I deficiency (such as Laron Syndrom or liver cirrhosis.

  4. Impalpable Testicular Seminoma Identified on Sonoelastography

    Directory of Open Access Journals (Sweden)

    Eric M. Ghiraldi

    2015-09-01

    Full Text Available The role of sonoelastography in diagnosing cancerous masses has increased since the advent of elastography as an ultrasound modality. Its ability to display differences in the mechanical properties of cancerous masses compared to normal surrounding tissue has shown benefit in increasing the accuracy of diagnosing malignant breast and thyroid masses and has shown early potential in accomplishing better targeted prostate biopsies. To date, the literature is limited in the number of studies describing the use of sonoelastography for testicular masses. We describe a 34-year-old man who presented with an incidental finding of an impalpable hypoechoic testicular mass on grayscale ultrasound during an infertility work-up. Sonoelastography was performed displaying intermediate testicular elastic properties. Upon frozen section of the mass during surgical exploration, classic testicular seminoma was diagnosed and subsequent radical orchiectomy was performed. We would like to use this atypical presentation of testicular seminoma to review the potential role of elastography for diagnosing testicular cancer.

  5. Oxandrolone in growth hormone-treated girls with Turner syndrome

    NARCIS (Netherlands)

    Menke, Leonie Alexandra

    2010-01-01

    Turner syndrome (TS) is a disorder in females that is caused by the complete or partial absence of the second sex chromosome. The main characteristics are gonadal dysgenesis and short stature, with adult patients being on average 20 cm shorter than healthy women. Growth hormone (GH) therapy

  6. Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

    Directory of Open Access Journals (Sweden)

    Mao Mao

    2017-04-01

    Full Text Available Ocular anterior segment dysgenesis (ASD describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Type IV collagen alpha 1 (COL4A1 is an extracellular matrix protein and a critical component of nearly all basement membranes. COL4A1 mutations cause multi-system disorders in patients, including ASD (congenital cataracts, Axenfeld-Rieger's anomaly, Peter's anomaly and microphthalmia and congenital or juvenile glaucoma. Here, we use a conditional Col4a1 mutation in mice to determine the location and timing of pathogenic events underlying COL4A1-related ocular dysgenesis. Our results suggest that selective expression of the Col4a1 mutation in neural crest cells and their derivatives is not sufficient to cause ocular dysgenesis and that selective expression of the Col4a1 mutation in vascular endothelial cells can lead to mild ASD and optic nerve hypoplasia but only on a sensitized background. In contrast, lens-specific expression of the conditional Col4a1 mutant allele led to cataracts, mild ASD and optic nerve hypoplasia, and age-related intraocular pressure dysregulation and optic nerve damage. Finally, ubiquitous expression of the conditional Col4a1 mutation at distinct developmental stages suggests that pathogenesis takes place before E12.5. Our results show that the lens and possibly vasculature play important roles in Col4a1-related ASD and that the pathogenic events occur at mid-embryogenesis in mice, during early stages of ocular development.

  7. Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

    Science.gov (United States)

    Mao, Mao; Ou, Yvonne

    2017-01-01

    ABSTRACT Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Type IV collagen alpha 1 (COL4A1) is an extracellular matrix protein and a critical component of nearly all basement membranes. COL4A1 mutations cause multi-system disorders in patients, including ASD (congenital cataracts, Axenfeld-Rieger's anomaly, Peter's anomaly and microphthalmia) and congenital or juvenile glaucoma. Here, we use a conditional Col4a1 mutation in mice to determine the location and timing of pathogenic events underlying COL4A1-related ocular dysgenesis. Our results suggest that selective expression of the Col4a1 mutation in neural crest cells and their derivatives is not sufficient to cause ocular dysgenesis and that selective expression of the Col4a1 mutation in vascular endothelial cells can lead to mild ASD and optic nerve hypoplasia but only on a sensitized background. In contrast, lens-specific expression of the conditional Col4a1 mutant allele led to cataracts, mild ASD and optic nerve hypoplasia, and age-related intraocular pressure dysregulation and optic nerve damage. Finally, ubiquitous expression of the conditional Col4a1 mutation at distinct developmental stages suggests that pathogenesis takes place before E12.5. Our results show that the lens and possibly vasculature play important roles in Col4a1-related ASD and that the pathogenic events occur at mid-embryogenesis in mice, during early stages of ocular development. PMID:28237965

  8. Case report: Traumatic unilateral testicular rupture

    OpenAIRE

    Bauer, Natasha J.G.

    2016-01-01

    Introduction: Testicular trauma is classified aetiologically as blunt, penetrating or degloving. Blunt testicular trauma, caused by interpersonal violence, sporting injuries and RTAs account for the majority of cases, typically affecting males aged 15–40 [1]. Approximately 98.5% of blunt trauma resulted in unilateral testicular injury; about 12–15% involving cyclists or motorcyclists (Cass and Luxenberg, 1988) [2]. Presentation of case: A 48-year-old male motorcyclist presented to the acci...

  9. Testicular Pain Associated With Minocycline Use

    Directory of Open Access Journals (Sweden)

    Victor Kucherov

    2015-05-01

    Full Text Available Two males ages 16 and 23 years presented with new testicular pain while taking minocycline. Both patients experienced resolution of their symptoms only after minocycline discontinuation. Testicular pain with minocycline use has been previously described, however only in the setting of systemic autoimmune reactions (which were absent here. These cases represent probable rare adverse reactions to minocycline. For patients taking minocycline who experience otherwise unexplained testicular pain, a trial discontinuation of this medication should be considered.

  10. Repression of Hybrid Dysgenesis in Drosophila Melanogaster by Individual Naturally Occurring P Elements

    Science.gov (United States)

    Rasmusson, K. E.; Raymond, J. D.; Simmons, M. J.

    1993-01-01

    Individual P elements that were genetically isolated from wild-type strains were tested for their abilities to repress two aspects of hybrid dysgenesis: gonadal dysgenesis and mutability of a double-P element-insertion allele of the singed locus (sn(w)). These elements were also characterized by Southern blotting, polymerase chain reaction amplification and DNA sequencing. Three of the elements were 1.1-kb KP elements, one was a 1.2-kb element called D50, and one was a 0.5-kb element called SP. These three types of elements could encode polypeptides of 207, 204, and 14 amino acids, respectively. Gonadal dysgenesis was repressed by two of the KP elements (denoted KP(1) and KP(6)) and by SP, but not by the third KP element (KP(D)), nor by D50. Repression of gonadal dysgenesis was mediated by a maternal effect, or by a combination of zygotic and maternal effects generated by the P elements themselves. The mutability of sn(w) was repressed by the KP(1) and KP(6) elements, by D50 and by SP, but not by KP(D); however, the SP element repressed sn(w) mutability only when the transposase came from complete P elements and the D50 element repressed it only when the transposase came from the modified P element known as Δ2-3. In all cases, repression of sn(w) mutability appeared to be mediated by a zygotic effect of the isolated P element. Each of the isolated elements was also tested for its ability to suppress the phenotype of a P-insertion mutation of the vestigial locus (vg(21-3)). D50 was a moderate suppressor whereas SP and the three KP elements had little or no effect. These results indicate that each isolated P element had its own profile of repression and suppression abilities. It is suggested that these abilities may be mediated by P-encoded polypeptides or by antisense P RNAs initiated from external genomic promoters. PMID:8384145

  11. Cryopreservation of testicular tissue before long-term testicular cell culture does not alter in vitro cell dynamics

    NARCIS (Netherlands)

    Baert, Yoni; Braye, Aude; Struijk, Robin B.; van Pelt, Ans M. M.; Goossens, Ellen

    2015-01-01

    To assess whether testicular cell dynamics are altered during long-term culture after testicular tissue cryopreservation. Experimental basic science study. Reproductive biology laboratory. Testicular tissue with normal spermatogenesis was obtained from six donors. None. Detection and comparison of

  12. The Danish Testicular Cancer database

    DEFF Research Database (Denmark)

    Daugaard, Gedske; Kier, Maria Gry Gundgaard; Bandak, Mikkel

    2016-01-01

    AIM: The nationwide Danish Testicular Cancer database consists of a retrospective research database (DaTeCa database) and a prospective clinical database (Danish Multidisciplinary Cancer Group [DMCG] DaTeCa database). The aim is to improve the quality of care for patients with testicular cancer (TC......) in Denmark, that is, by identifying risk factors for relapse, toxicity related to treatment, and focusing on late effects. STUDY POPULATION: All Danish male patients with a histologically verified germ cell cancer diagnosis in the Danish Pathology Registry are included in the DaTeCa databases. Data...... collection has been performed from 1984 to 2007 and from 2013 onward, respectively. MAIN VARIABLES AND DESCRIPTIVE DATA: The retrospective DaTeCa database contains detailed information with more than 300 variables related to histology, stage, treatment, relapses, pathology, tumor markers, kidney function...

  13. TESTICULAR CANCER AT KENYATTA NATIONAL HOSPITAL ...

    African Journals Online (AJOL)

    hi-tech

    2000-02-02

    Feb 2, 2000 ... differentiated tumours(13). Up to 90% of patients with testicular germ cell cancer will have elevated alpha fetoprotein (AFP) or beta human chorionic gonadotrophin. (B-hCG)(14). ... that patients with cryptochirdism have 3-46 fold increased incidence of testicular cancer(18). Furthermore 5-10% of patients ...

  14. EAU guidelines on testicular cancer: 2011 update

    NARCIS (Netherlands)

    Albers, Peter; Albrecht, Walter; Algaba, Ferran; Bokemeyer, Carsten; Cohn-Cedermark, Gabriella; Fizazi, Karim; Horwich, Alan; Laguna, Maria Pilar

    2011-01-01

    On behalf of the European Association of Urology (EAU), guidelines for the diagnosis, therapy, and follow-up of testicular cancer were established. This article is a short version of the EAU testicular cancer guidelines and summarises the main conclusions from the guidelines on the management of

  15. Early Life Events Predict Adult Testicular Function

    DEFF Research Database (Denmark)

    Hart, Roger J; Doherty, Dorota A; Keelan, Jeffrey A

    2016-01-01

    ). Consistent height above the 50th percentile for age through childhood was associated with larger adult mean testicular volume (P ... = .003) in adulthood. CONCLUSIONS: Exposures to maternal smoking and higher cord blood estrogens at delivery were associated with a reduced sperm output in adulthood. Optimal adult testicular function depends on being born at or above average weight, and maintaining optimal growth and adiposity...

  16. Spermatogenesis and testicular tumours in ageing dogs

    NARCIS (Netherlands)

    Peters, M. A.; de rooij, D. G.; Teerds, K. J.; van de Gaag, I.; van Sluijs, F. J.

    2001-01-01

    The aims of this investigation were to quantify the changes in canine spermatogenesis that occur during ageing and to study the prevalence of testicular tumours and their effects on spermatogenesis in dogs. Testes from 74 dogs of various breeds without clinically detected testicular disease and from

  17. Histopathologic pattern of neoplastic testicular and paratesticular ...

    African Journals Online (AJOL)

    Objective: The present study is undertaken to describe the spectrum of histopathological features and age distribution of neoplastic testicular and paratesticular lesions in the University of Maiduguri Teaching Hospital. Materials and Methods: A retrospective descriptive study of 14 testicular and paratesticular neoplastic ...

  18. Surviving testicular cancer: : sexuality & other existential issues

    NARCIS (Netherlands)

    Pool, Grietje

    2003-01-01

    The thesis deals with the psychological aspects of ‘sexuality after testicular cancer’, where my collegue, the physician dr. Van Basten formerly predominantly described the physical-biological aspects of this subject. Testicular cancer is a type of male genital cancer, usually diagnosed between

  19. Bilateral Variations of the Testicular Vessels: Embryological ...

    African Journals Online (AJOL)

    The testicular veins originate from the pampiniform plexus that is formed by the union of small veins from the testis and epididymis. The pampiniform plexus surrounds the testicular artery to proceed cranially and unites to form two or three venous trunks at the level of the deep inguinal ring. At the lumbar region, the venous ...

  20. Teenage testicular torsion. | Onuigbo | International Journal of ...

    African Journals Online (AJOL)

    Aim: To study testicular torsion in teenagers in the Igbo community. Method: A retrospective study was carried out as regards requests for pathological examination of specimens received at a Regional Reference Laboratory based in Enugu. Results: Over a period of 30 years, 28 surgical specimens of testicular torsion in ...

  1. Right paratesticular abscess mimicking neonatal testicular torsion ...

    African Journals Online (AJOL)

    U.O. Ezomike

    Abstract. The clinical presentation of neonatal paratesticular abscess may closely resemble that of, neonatal testicular torsion and the use of scrotal ultrasonography to differentiate the two has low, sensitivity. We propose early operative treatment of suspected neonatal testicular torsion to salvage, the testicle in cases of ...

  2. Testicular microlithiasis: Case report and literature review

    African Journals Online (AJOL)

    [1] Dogra SV, Gottlieb RH, Rubens DJ, Liao L. Benign intratesticular cystic lesions: US features. Radiographics 2001;21:S273–81. [2] Gooding GA, Leonhardt W, Stein R. Testicular cysts: US findings. Radi- ology 1987;163:537–8. [3] Hamm B, Fobbe F, Loy V. Testicular cysts: differentiation with US and clinical findings.

  3. Phthalate excretion pattern and testicular function

    DEFF Research Database (Denmark)

    Joensen, Ulla Nordström; Frederiksen, Hanne; Jensen, Martin Blomberg

    2012-01-01

    In animals, some phthalates impair male reproductive development and function. Epidemiological studies have reported inconsistent evidence of associations between phthalates and markers of human testicular function.......In animals, some phthalates impair male reproductive development and function. Epidemiological studies have reported inconsistent evidence of associations between phthalates and markers of human testicular function....

  4. Triplet Pregnancy Complicated with One Hydatidiform Mole and Preeclampsia in a 46, XY Female with Gonadal Dysgenesis

    Directory of Open Access Journals (Sweden)

    Po-Chun Ko

    2007-09-01

    Conclusion: This is the first report of triplet pregnancy complicated with one complete hydatidiform mole and preeclampsia in a 46, XY female with gonadal dysgenesis. Our case demonstrated that prolonged gestation with both surviving fetuses was possible by applying intensive monitoring of the whole pregnancy.

  5. Case Report - Bilateral synchronous testicular germ cell tumours in ...

    African Journals Online (AJOL)

    Bilateral testicular tumours are rare, and 80% of bilateral tumours are metachronous. The incidence of testicular tumours is high in cryptorchidism. Synchronous bilateral testicular tumours are rare, and bilateral synchronous testicular tumours in bilateral cryptorchidism extremely rare, probably not reported previously.

  6. Primary Testicular Lymphoma In Nigerian Males: Case Report and ...

    African Journals Online (AJOL)

    Primary Testicular Lymphoma In Nigerian Males: Case Report and Clinicopathological Review. ... A review of cases of primary testicular lymphoma seen within a period of twelve years at the OAUTHC Nigeria was carried out. Three cases of primary testicular ... Key Words: testicular, lymphoma, Non- Hodgkin Nigerian ...

  7. Accuracy of Prader orchidometer in measuring testicular volume

    African Journals Online (AJOL)

    2012-10-21

    Oct 21, 2012 ... Background: Seminiferous tubules comprise 80-90% of testicular mass. Thus, the testicular volume is believed to be an index of spermatogenesis. Therefore, accurate testicular volume is one way to assess testicular function. Objective: To determine the accuracy of Prader orchidometer for measuring the ...

  8. Acute and intermittent testicular torsion: Analysis of presentation ...

    African Journals Online (AJOL)

    2015-11-18

    Nov 18, 2015 ... Background: Testicular torsion compromises the blood supply to the testes and may result in testicular loss or damage if not dealt with promptly. It can occur either as acute testicular torsion (ATT) or intermittent testicular torsion (ITT). This study examines the presentation, management, and outcome of adult ...

  9. Unusual termination of the right testicular vein | Woldeyes | Anatomy ...

    African Journals Online (AJOL)

    The testicular veins are formed by the veins emerging from the testis and epididymis forming the pampiniform venous plexus. The right testicular vein drains into inferior vena cava and the left testicular vein to the left renal vein. Testicular veins display a great variability with regard to their number, course and sites of ...

  10. A Brief Review of the Link between Environment and Male Reproductive Health

    DEFF Research Database (Denmark)

    Skakkebaek, Niels E

    2016-01-01

    on the hypothesis that testicular germ cell cancer, which originates from germ cell neoplasia in situ, is of foetal origin and associated with other male reproductive problems through a testicular dysgenesis syndrome, also including foetal origin of impaired spermatogenesis, hypospadias and cryptorchidism...

  11. Recent adverse trends in semen quality and testis cancer incidence among Finnish men

    DEFF Research Database (Denmark)

    Jorgensen, N.; Vierula, M.; Jacobsen, R.

    2011-01-01

    Impaired semen quality and testicular cancer may be linked through a testicular dysgenesis syndrome of foetal origin. The incidence of testis cancer has been shown to increase among Finnish men, whereas there is no recent publication describing temporal trends in semen quality. Therefore, we...

  12. Ectopia testicular perineal: presentación de un caso Perineal testicular ectopia: a case report

    Directory of Open Access Journals (Sweden)

    Vivian Vialat Soto

    2008-09-01

    Full Text Available La ectopia testicular perineal es una anomalía congénita infrecuente y se incluye dentro del síndrome de escroto vacío. Se reporta el caso de un paciente con escroto derecho vacío y masa perineal ipsolateral palpable, asociada a hernia inguinal derecha. El paciente fue operado en el Hospital Pediátrico Universitario de Centro Habana. Durante la exploración quirúrgica el testículo derecho y su gubernaculum testis se encontraban fijados en el perineo derecho. Las características del testículo y sus elementos eran normales. El testículo se fijó en el escroto derecho sin dificultad. La detección precoz de esta patología y su corrección quirúrgica en el tiempo establecido favoreció la funcionalidad del órgano.Perineal testicular ectopia is a rare congenital anomaly and it is included in the empty scrotum syndrome. The case of a patient with empty right scrotum and a palpable ipsilateral perineal mass associated with a right inguinal hernia is reported. The patient was operated on in "Centro Habana" University Children Hospital. During the surgical exploration, the right testicle and its gubernaculum testis were fixed to the right perineum. The characteristics of the testicle and its elements were normal. The testicle was fixed to the right scrotum without difficulty. The early detection of this pathology and its surgical repair on time, favored the functionality of the organ.

  13. Lactobacillus in Preventing Infection in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer or Myelodysplastic Syndrome

    Science.gov (United States)

    2017-02-02

    Breast Cancer; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Neuroblastoma; Ovarian Cancer; Testicular Germ Cell Tumor

  14. Testicular microlithiasis: a case report and review of the literature.

    Science.gov (United States)

    Lawrentschuk, Nathan; Brough, Stephen J S; de Ryke, Rex J

    2003-05-01

    Testicular microlithiasis (TM) is a rare condition in which men have innumerable testicular calcifications. It is increasingly being reported on ultrasound. The published literature has reported an association between confirmed testicular malignancy and testicular microlithiasis. The relationship between TM and the risk of developing malignancy is unclear. The present paper reports a patient with a previously normal scrotal ultrasound except for bilateral sonographically detected TM who developed a testicular tumour. It also discusses the appropriate management of TM after reviewing the published literature.

  15. Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure

    Directory of Open Access Journals (Sweden)

    Nusinowitz Steven

    2001-11-01

    Full Text Available Abstract Background Glaucoma is a blinding disease usually associated with high intraocular pressure (IOP. In some families, abnormal anterior segment development contributes to glaucoma. The genes causing anterior segment dysgenesis and glaucoma in most of these families are not identified and the affected developmental processes are poorly understood. Bone morphogenetic proteins (BMPs participate in various developmental processes. We tested the importance of Bmp4 gene dosage for ocular development and developmental glaucoma. Results Bmp4+/- mice have anterior segment abnormalities including malformed, absent or blocked trabecular meshwork and Schlemm's canal drainage structures. Mice with severe drainage structure abnormalities, over 80% or more of their angle's extent, have elevated IOP. The penetrance and severity of abnormalities is strongly influenced by genetic background, being most severe on the C57BL/6J background and absent on some other backgrounds. On the C57BL/6J background there is also persistence of the hyaloid vasculature, diminished numbers of inner retinal cells, and absence of the optic nerve. Conclusions We demonstrate that heterozygous deficiency of BMP4 results in anterior segment dysgenesis and elevated IOP. The abnormalities are similar to those in human patients with developmental glaucoma. Thus, BMP4 is a strong candidate to contribute to Axenfeld-Rieger anomaly and other developmental conditions associated with human glaucoma. BMP4 also participates in posterior segment development and wild-type levels are usually critical for optic nerve development on the C57BL/6J background. Bmp4+/- mice are useful for studying various components of ocular development, and may allow identification of strain specific modifiers affecting a variety of ocular phenotypes.

  16. Testicular cancer: addressing the psychosexual issues.

    LENUS (Irish Health Repository)

    Moore, Annamarie

    2012-01-31

    Testicular cancer is the most common malignancy in men aged 15-35 years and predominantly occurs at a time in a man\\'s life when important decisions about marriage, starting a family and a professional career are being made. While treatments for testicular cancer are very successful, they can have a major impact on the person\\'s sexuality and sense of self. The focus of this article is on exploring the impact of cancer treatments for testicular cancer on men\\'s sexuality and how nurses can respond to their concerns in a sensitive and informed manner.

  17. [Segmental testicular infarction in sickle cell anemia].

    Science.gov (United States)

    Mueller, F E

    2014-05-01

    Vascular occlusions are the clinical indicators of sickle cell disease and in urology they can lead to papillary necrosis, renal infarction or priapism. Segmental testicular infarction in patients with sickle cell disease is a rare event and only a few cases have been reported. We present a 25-year-old man with right testicular pain increasing over 3 days and sickle cell disease. Ultrasound of the right scrotum presented an inhomogeneous, mainly hypoechegenic mass with a hyperechogenic margin and no sign of blood flow. A partial orchiectomy was performed with total enucleation of the lesion, which was histologically diagnosed as benign hemorrhagic necrotic testicular tissue.

  18. Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.

    Science.gov (United States)

    Rehkämper, Jan; Tewes, Ann-Christin; Horvath, Judit; Scherer, Gerd; Wieacker, Peter; Ledig, Susanne

    2017-12-01

    46,XY gonadal dysgenesis (46,XY GD) is a disorder of sexual development caused by mutations in genes involved in early gonadal development (bipotential gonads) and testis differentiation. In 46,XY GD individuals, mutations of the SRY gene are detected most frequently, followed by mutations in the NR5A1 (SF-1) gene, but in a lot of cases, the underlying molecular mechanism remains elusive. In this study, we retrospectively performed sequence analyses of the NR5A1 (SF-1) gene in 84 patients with complete, partial, and syndromic forms of 46,XY GD. In total, 7 heterozygous mutations were found in 6 of 84 patients (7.1%). Among these, we identified 4 mutations that, to the best of our knowledge, have not been reported before (c.268G>T, c.369del, c.871-1G>C, and c.893T>C). Transfection of different mutations revealed altered subcellular localization of the mutant SF-1 protein in the case of the frameshift mutations, indicating an impaired protein function. In conclusion, we present 4 novel mutations of the NR5A1 gene associated with 46,XY GD together with in vitro data pointing towards a possible functional impairment of the mutant SF-1 proteins. © 2017 S. Karger AG, Basel.

  19. Testicular Damage following Testicular Sperm Retrieval: A Ram Model Study

    Directory of Open Access Journals (Sweden)

    Jens Fedder

    2017-01-01

    Full Text Available The aim of this study was to evaluate the possible development of histological abnormalities such as fibrosis and microcalcifications after sperm retrieval in a ram model. Fourteen testicles in nine rams were exposed to open biopsy, multiple TESAs, or TESE, and the remaining four testicles were left unoperated on as controls. Three months after sperm retrieval, the testicles were removed, fixed, and cut into 1/2 cm thick slices and systematically put onto a glass plate exposing macroscopic abnormalities. Tissue from abnormal areas was cut into 3 μm sections and stained for histological evaluation. Pathological abnormalities were observed in testicles exposed to sperm retrieval (≥11 of 14 compared to 0 of 4 control testicles. Testicular damage was found independently of the kind of intervention used. Therefore, cryopreservation of excess sperm should be considered while retrieving sperm.

  20. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Timmermans, J.; Beerendonk, C.C.M.; Verhaak, C.M.; Netea-Maier, R.T.; Otten, B.J.; Braat, D.D.M.; Smeets, D.F.C.M.; Kunst, D.; Hermus, A.R.M.M.; Timmers, H.J.L.M.

    2011-01-01

    CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective

  1. Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome

    Directory of Open Access Journals (Sweden)

    Matthew T. Whitehead

    2014-01-01

    Full Text Available A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation.

  2. Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1 Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

    Directory of Open Access Journals (Sweden)

    Michela Barbaro

    2012-01-01

    Full Text Available A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively small NR0B1 locus duplications. We have identified another NR0B1 duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We performed X-inactivation studies in three fertile female carriers of three different small NR0B1 locus duplications identified by our group. The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting that NR0B1 overexpression does not impair ovarian function. We furthermore emphasize the importance to investigate the NR0B1 locus also in patients with isolated XY gonadal dysgenesis.

  3. Testicular myeloid sarcoma: case report

    Directory of Open Access Journals (Sweden)

    Luzia Beatriz Ribeiro Zago

    2013-01-01

    Full Text Available Myeloid sarcomas are extramedullary solid tumors composed of immature granulocytic precursor cells. In association with acute myeloid leukemia and other myeloproliferative disorders, they may arise concurrently with compromised bone marrow related to acute myeloid leukemia, as a relapsed presentation, or occur as the first manifestation. The testicles are considered to be an uncommon site for myeloid sarcomas. No therapeutic strategy has been defined as best but may include chemotherapy, radiotherapy and/or hematopoietic stem cell transplantation. This study reports the evolution of a patient with testicular myeloid sarcoma as the first manifestation of acute myeloid leukemia. The patient initially refused medical treatment and died five months after the clinical condition started.

  4. Cadmium-induced testicular injury.

    Science.gov (United States)

    Siu, Erica R; Mruk, Dolores D; Porto, Catarina S; Cheng, C Yan

    2009-08-01

    Cadmium (Cd) is an environmental toxicant and an endocrine disruptor in humans and rodents. Several organs (e.g., kidney, liver) are affected by Cd and recent studies have illustrated that the testis is exceedingly sensitive to Cd toxicity. More important, Cd and other toxicants, such as heavy metals (e.g., lead, mercury) and estrogenic-based compounds (e.g., bisphenols) may account for the recent declining fertility in men among developed countries by reducing sperm count and testis function. In this review, we critically discuss recent data in the field that have demonstrated the Cd-induced toxicity to the testis is probably the result of interactions of a complex network of causes. This is likely to involve the disruption of the blood-testis barrier (BTB) via specific signal transduction pathways and signaling molecules, such as p38 mitogen-activated protein kinase (MAPK). We also summarize current studies on factors that confer and/or regulate the testis sensitivity to Cd, such as Cd transporters and metallothioneins, the impact of Cd on the testis as an endocrine disruptor and oxidative stress inducer, and how it may disrupt the Zn(2+) and/or Ca(2+) mediated cellular events. While much work is needed before a unified mechanistic pathway of Cd-induced testicular toxicity emerges, recent studies have helped to identify some of the likely mechanisms and/or events that take place during Cd-induced testis injury. Furthermore, some of the recent studies have shed lights on potential therapeutic or preventive approaches that can be developed in future studies by blocking or minimizing the destructive effects of Cd to testicular function in men.

  5. The Danish Testicular Cancer database.

    Science.gov (United States)

    Daugaard, Gedske; Kier, Maria Gry Gundgaard; Bandak, Mikkel; Mortensen, Mette Saksø; Larsson, Heidi; Søgaard, Mette; Toft, Birgitte Groenkaer; Engvad, Birte; Agerbæk, Mads; Holm, Niels Vilstrup; Lauritsen, Jakob

    2016-01-01

    The nationwide Danish Testicular Cancer database consists of a retrospective research database (DaTeCa database) and a prospective clinical database (Danish Multidisciplinary Cancer Group [DMCG] DaTeCa database). The aim is to improve the quality of care for patients with testicular cancer (TC) in Denmark, that is, by identifying risk factors for relapse, toxicity related to treatment, and focusing on late effects. All Danish male patients with a histologically verified germ cell cancer diagnosis in the Danish Pathology Registry are included in the DaTeCa databases. Data collection has been performed from 1984 to 2007 and from 2013 onward, respectively. The retrospective DaTeCa database contains detailed information with more than 300 variables related to histology, stage, treatment, relapses, pathology, tumor markers, kidney function, lung function, etc. A questionnaire related to late effects has been conducted, which includes questions regarding social relationships, life situation, general health status, family background, diseases, symptoms, use of medication, marital status, psychosocial issues, fertility, and sexuality. TC survivors alive on October 2014 were invited to fill in this questionnaire including 160 validated questions. Collection of questionnaires is still ongoing. A biobank including blood/sputum samples for future genetic analyses has been established. Both samples related to DaTeCa and DMCG DaTeCa database are included. The prospective DMCG DaTeCa database includes variables regarding histology, stage, prognostic group, and treatment. The DMCG DaTeCa database has existed since 2013 and is a young clinical database. It is necessary to extend the data collection in the prospective database in order to answer quality-related questions. Data from the retrospective database will be added to the prospective data. This will result in a large and very comprehensive database for future studies on TC patients.

  6. Surviving testicular cancer: the Lebanese lived experience.

    Science.gov (United States)

    Saab, Mohammad; Noureddine, Samar; Abu-Saad Huijer, Huda; Dejong, Jocelyn

    2014-01-01

    Testicular cancer is thought to have a great impact on its survivors, yet there has been limited literature on the topic globally and no literature on the topic in Lebanon and the Arab region. The purpose of this study was to explore the lived experience of Lebanese testicular cancer survivors and gain an in-depth understanding of the psychosexual aspect of their experience. A hermeneutic phenomenological approach with semistructured digitally recorded interviews and observational field notes was utilized. A purposive sample of Lebanese testicular cancer survivors, aged between 18 and 50 years, in remission for at least 3 years, and willing to share personal information was recruited. Interviews were transcribed verbatim in Arabic. Data saturation was achieved at the seventh interview; a total of eight informants were recruited. The opening question was, "Tell me about your life since you got treated for testicular cancer," and was followed by probing questions. Two to three weeks after the initial interview, informants were called to validate the investigators' primary analysis. Six core themes emerged: cancer perception in the Lebanese culture; "do not show, do not tell"; cancer experience is a turning point; fertility, manhood, and relationships; coping with cancer; and preserved aspects of life. The findings provide an in-depth understanding of the experience of Lebanese testicular cancer survivors with a focus on the psychosexual aspect of this experience. The results suggest the need to educate patients about testicular cancer and its effect on their fertility.

  7. Prevalence of small testicular hyperechogenic foci in subgroups of 382 non-vasectomized, azoospermic men

    DEFF Research Database (Denmark)

    Fedder, Jens

    2017-01-01

    Testicular hyperechogenic foci (THF) are associated with Klinefelter’s syndrome, cryptorchidism, infertility, and testicular germ cell neoplasia. The aims of the study were to evaluate THF in relation to etiology of azoospermia and to Sertoli cell dysfunction. The structures inside the scrotum...... technique for detection of cytokeratin-18 (CK-18). The prevalence of THF was 13.4%. uTHF was found in 11 men (2.9%), the pattern was bilateral in four while other four had bTHF in the other testis. pTHF was detected in eight cases (2.1%), and except for one case with Klinefelter’s syndrome, pTHF was in all...

  8. Testicular organoids: a new model to study the testicular microenvironment in vitro?

    Science.gov (United States)

    Alves-Lopes, João Pedro; Stukenborg, Jan-Bernd

    2017-12-21

    In recent decades, a broad range of strategies have been applied to model the testicular microenvironment in vitro. These models have been utilized to study testicular physiology and development. However, a system that allows investigations into testicular organogenesis and its impact in the spermatogonial stem-cell (SSC) niche in vitro has not been developed yet. Recently, the creation of tissue-specific organ-like structures called organoids has resurged, helping researchers to answer scientific questions that previous in vitro models could not help to elucidate. So far, a small number of publications have concerned the generation of testicular organoids and their application in the field of reproductive medicine and biology. Here, we aim to elucidate whether testicular organoids might be useful in answering current scientific questions about the regulation and function of the SSC niche as well as germ cell proliferation and differentiation, and whether or not the existing in vitro models are already sufficient to address them. Moreover, we would like to discuss how an organoid system can be a better solution to address these prominent scientific problems in our field, by the creation of a rationale parallel to those in other areas where organoid systems have been successfully utilized. We comprehensively reviewed publications regarding testicular organoids and the methods that most closely led to the formation of these organ-like structures in vitro by searching for the following terms in both PubMed and the Web of Science database: testicular organoid, seminiferous tubule 3D culture, Sertoli cell 3D culture, testicular cord formation in vitro, testicular morphogenesis in vitro, germ cell 3D culture, in vitro spermatogenesis, testicular de novo morphogenesis, seminiferous tubule de novo morphogenesis, seminiferous tubule-like structures, testicular in vitro model and male germ cell niche in vitro, with no restrictions to any publishing year. The inclusion

  9. In Vivo Analysis of Angle Dysgenesis in Primary Congenital, Juvenile, and Adult-Onset Open Angle Glaucoma.

    Science.gov (United States)

    Gupta, Viney; Chaurasia, Abadh K; Gupta, Shikha; Gorimanipalli, Bhavya; Sharma, Ajay; Gupta, Amisha

    2017-11-01

    The purpose of this study was to comparatively evaluate angle dysgenesis in vivo, among congenital, juvenile, and adult-onset open angle glaucoma patients. A cross-sectional evaluation of 96 glaucoma patients, 22 children with primary congenital glaucoma (PCG) old enough to cooperate for optical coherence tomography (OCT), 34 juvenile-onset open angle glaucoma (JOAG) patients, 40 adult-onset primary open angle glaucoma (POAG), and 30 healthy subjects, was carried out using high-resolution anterior segment spectral domain (SD)-OCT. Subgroup analysis was done for presence/ absence of angle dysgenesis as defined by presence of abnormal tissue/hyperreflective membrane within angle recess and/or absence of Schlemm's canal (SC). Morphologic features suggestive of angle dysgenesis such as the presence of abnormal tissue at the angle and a hyperreflective membranous structure covering the meshwork were seen in all PCG eyes (100%), in 14 (40%) JOAG eyes, and none of the POAG eyes in comparison to healthy eyes (P = 0.01, P = 0.03, and P = 0.23 for PCG, JOAG, and POAG, respectively). SC could be seen in 27 (90%) healthy eyes compared with only 7 (30%) in PCG (P = 0.01) 20 (60%) JOAG eyes (P = 0.03), and 26 (65%) adult-onset POAG eyes (P = 0.23; χ2 test). Angle dysgenesis in the form of abnormal tissue at the angle/hyperreflective membrane and/or absence of SC could be identified on anterior segment SD-OCT, which can be used for in vivo evaluation of eyes with developmental glaucoma.

  10. Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform

    OpenAIRE

    Norling, Ameli; Lindén Hirschberg, Angelica; Iwarsson, Erik; Persson, Bengt; Wedell, Anna; Barbaro, Michela

    2013-01-01

    Half of all patients with a disorder of sex development (DSD) do not receive a specific molecular diagnosis. Comparative genomic hybridization (CGH) can detect copy number changes causing gene haploinsufficiency or over-expression that can lead to impaired gonadal development and gonadal DSD. The purpose of this study was to identify novel candidate genes for 46,XY gonadal dysgenesis (GD) using a customized 1 M array-CGH platform with whole-genome coverage and probe enrichment targeting 78 ge...

  11. Public awareness of testicular cancer and testicular self-examination in academic environments: a lost opportunity

    Directory of Open Access Journals (Sweden)

    Henry A. A. Ugboma

    2011-01-01

    Full Text Available BACKGROUND: Although testicular cancer is the most common cancer among 18- to 50-year-old males, healthcare providers seldom teach testicular self-examination techniques to clients, thus potentially missing opportunities for early detection. This form of cancer is easily diagnosable by testicular self-examination and is 96% curable if detected early. Periodic self-examination must be performed for early detection. Knowledge deficits and sociocultural norms contribute to low levels of health-related knowledge in most patients, resulting in undue delays before seeking medical advice. OBJECTIVE: Our aim is to assess the level of awareness of testicular cancer and the prevalence of the practice of testicular self-examination in academic environments to enable appropriate interventions. METHOD: A cross-sectional survey was administered to 750 consecutive males aged 18-50 years in three tertiary institutions in Port Harcourt from October 2008 to April 2009. RESULT: Knowledge or awareness of testicular cancer was poor. Almost all of the respondents were unaware that testicular lumps may be signs of cancer. A lump was typically construed as a benign carbuncle or something that could resolve spontaneously. The main factor contributing to respondents' lack of knowledge of testicular cancer was that few reported that they were "ever taught about testicular self-examination." CONCLUSION: Young adult men are unaware of their risk for testicular cancer, which is the most common neoplasm in this age group. Healthcare providers are not informing them of this risk, nor are they teaching them the simple early detection technique of self-examination of the testes.

  12. The Danish Testicular Cancer database

    Directory of Open Access Journals (Sweden)

    Daugaard G

    2016-10-01

    Full Text Available Gedske Daugaard,1 Maria Gry Gundgaard Kier,1 Mikkel Bandak,1 Mette Saksø Mortensen,1 Heidi Larsson,2 Mette Søgaard,2 Birgitte Groenkaer Toft,3 Birte Engvad,4 Mads Agerbæk,5 Niels Vilstrup Holm,6 Jakob Lauritsen1 1Department of Oncology 5073, Copenhagen University Hospital, Rigshospitalet, Copenhagen, 2Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, 3Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, 4Department of Pathology, Odense University Hospital, Odense, 5Department of Oncology, Aarhus University Hospital, Aarhus, 6Department of Oncology, Odense University Hospital, Odense, Denmark Aim: The nationwide Danish Testicular Cancer database consists of a retrospective research database (DaTeCa database and a prospective clinical database (Danish Multidisciplinary Cancer Group [DMCG] DaTeCa database. The aim is to improve the quality of care for patients with testicular cancer (TC in Denmark, that is, by identifying risk factors for relapse, toxicity related to treatment, and focusing on late effects. Study population: All Danish male patients with a histologically verified germ cell cancer diagnosis in the Danish Pathology Registry are included in the DaTeCa databases. Data collection has been performed from 1984 to 2007 and from 2013 onward, respectively. Main variables and descriptive data: The retrospective DaTeCa database contains detailed information with more than 300 variables related to histology, stage, treatment, relapses, pathology, tumor markers, kidney function, lung function, etc. A questionnaire related to late effects has been conducted, which includes questions regarding social relationships, life situation, general health status, family background, diseases, symptoms, use of medication, marital status, psychosocial issues, fertility, and sexuality. TC survivors alive on October 2014 were invited to fill in this questionnaire including 160 validated questions

  13. Nontraumatic Testicular Pain due to Sacroiliac-Joint Dysfunction: A Case Report.

    Science.gov (United States)

    Leone, James E; Middleton, Steve

    2016-08-01

    To discuss the case of a 49-year-old man who presented to the sports medicine staff with pelvic pain of 10 years' duration consistent with pudendal neuralgia. Testicular pain in men is often provoked by direct trauma or may indicate an oncologic process. Epididymitis, athletic pubalgia, testicular tumor, sacroiliac joint dysfunction, lumbar radiculopathy. The patient responded positively to treatment and rehabilitation to restore normal mechanics to the lumbo-pelvic-hip complex. Several flare-ups since the initial treatment have been of short duration (<2 days) and less intense. Pudendal neuralgia tends to affect females more than males due to changes in the alignment and stability of the pelvis from a combination of a shorter, wider pelvis and muscle imbalances associated with childbirth. Typically, males with testicular pain suffer from epididymitis or some type of testicular torsion, which was not the situation in this case. Compression is also a common cause of pudendal neuralgia, although it was not responsible for this patient's pain, making diagnosis and treatment complex. Many pain syndromes can be treated with removal of the original stimulus. However, recognizing the factors contributing to pelvic pain and dysfunction in males can be a challenge for the sports medicine professional. A vigilant and unassuming approach to male pelvic pain is warranted, particularly by health care providers in diverse practice settings.

  14. Testicular Cancer Screening (PDQ®)—Health Professional Version

    Science.gov (United States)

    For testicular cancer, there is no standard or routine screening test. Review the limited evidence on the benefits and harms of screening for testicular cancer using ultrasound, physical examination, and self-examination in this expert-reviewed summary.

  15. Testicular seminoma metastasis to duodenum. Misdiagnosed as primary duodenal tumor

    Directory of Open Access Journals (Sweden)

    Amer Hashim Al Ani

    2016-01-01

    Conclusion: High index of suspicion for testicular seminoma must be raised when treating young males with GIT complications like hemorrhage. Testicular seminoma is the most common solid tumor at this age. Sometimes it is the cause behind this complication.

  16. Perinatal testicular torsion: literature review and local experience

    African Journals Online (AJOL)

    IUTT) and postnatal testicular torsion (PTT). IUTT includes cases of vanished testis and testicular mass presenting at birth. Controversies exist regarding the need for urgent exploration and contralateral orchiopexy. The aim of this study is to ...

  17. Perinatal testicular torsion: literature review and local experience ...

    African Journals Online (AJOL)

    IUTT) and postnatal testicular torsion (PTT). IUTT includes cases of vanished testis and testicular mass presenting at birth. Controversies exist regarding the need for urgent exploration and contralateral orchiopexy. The aim of this study is to ...

  18. Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion

    NARCIS (Netherlands)

    Little, M. H.; Williamson, K. A.; Mannens, M.; Kelsey, A.; Gosden, C.; Hastie, N. D.; van Heyningen, V.

    1993-01-01

    The triad of nephropathy, partial gonadal dysgenesis and Wilms' tumour (WT) is known as Denys-Drash syndrome (DDS). The WT predisposition gene WT1, which plays a vital role in both genital and renal development, is known to be mutated in DDS patients. The WT1 mutations in these patients are

  19. Microgravity effect on testicular functions.

    Science.gov (United States)

    Ricci, G; Catizone, A; Esposito, R; Galdieri, M

    2004-07-01

    In mammals spaceflight influences spermatogenesis since spermatogonial germ cell proliferation, compared to synchronous controls, is lightly decreased in irradiated or flown rats. Moreover, changes of the plasmatic testosterone production was described either in flight rats, or in rats maintained in simulated microgravity conditions. The hormonal levels of the astronauts change as it has been previously described, including hormones involved in the regulation of spermatogenesis such as testosterone and luteinizing hormone (LH). In microgravity conditions, human testosterone levels decreased whereas circulating LH levels increased. To study the effect of simulated microgravity on mammalian spermatogenesis we have utilized the Rotary Cell Culture System (RCCS) and we have cultured testicular fragments isolated from prepuberal rats in a chemically defined medium for three days under microgravity conditions. As control we have cultured the same amount of fragments at unit gravity. The morphology of the samples has been studied and the number of proliferating cells has been counted in control samples and in samples maintained in RCCS. The results indicate that the number of duplicating cells in the tubules was significantly increased in the microgravity-cultured fragments. The amount of testosterone secreted in the culture medium has been also evaluated and in RCCS samples the amount of the hormone was higher respect to the control samples.

  20. [Morphological contributions to the knowledge of testicular pathology (author's transl)].

    Science.gov (United States)

    Resel, L; Bullon, A; Merchan, J

    1974-01-01

    Among a serie of more than 500 biopsies, the authors show some testicular lesions of difficult interpretation which do not seem to have been reported previously. The electron-microscopical findings are: Contrarily to the uniform thickening of the seminal tube's anhista basal hyalino -esclerosis, in the Klinefelter's syndrome, the anhista shows focal bizarre thickenings, which have been repeteadly observed in the 15 cases studied. Well defined collagen inside the Leydigs's cytoplasm the authors discuss the possible importance of this unique finding in a 28 years old azoospermyc as revealing cellular inmaturity (fibroblastic origin of the interstitial cells). In light microscopy, they discuss the role of the "Hiatus Germinalis", typical of the oligospermies, as related to alterations of the maturation process.

  1. A Testicular Leydig Cell Tumor with Azoospermia; Re-visited

    African Journals Online (AJOL)

    Mubeen

    Leydig tumor is relatively a rare testicular tumor but the most common non-germ cell gonadal tumor. It constitutes about. 1-3% of all testicular tumors. Clinically, it is usually presented as a testicular mass or with endocrine symptoms, which include gynecomastia, increased sex hormone levels, and other correlated symptoms ...

  2. Primary Testicular Lymphoma In Nigerian Males: Case Report and ...

    African Journals Online (AJOL)

    The prevalence of primary testicular lymphoma in this environment is similar to the prevalence elsewhere but the age at presentation differs. There is a need to be on the lookout for the disease not only in the elderly but also in young patients presenting with testicular masses. Key Words: testicular, lymphoma, Non- Hodgkin

  3. Testicular Microlithiasis: Report of Two Cases and Overview ...

    African Journals Online (AJOL)

    Testicular microlithiasis is a rare asymptomatic disease of the testis. It is associated with testicular tumors and a wide variety of other pathologies. The sonographic image which is the main tool for diagnosis is characteristic. Because of its high association with malignant testicular tumors incidentally discovered cases of ...

  4. TESTICULAR TUMORS IN PORT HARCOURT (A ten-year review)

    African Journals Online (AJOL)

    testicular tumors.12 '. RESULTS. A'total of twelve testicular tumours were reviewed. The yOungest patient was 3 years old while the oldest was. 48 years old. I. Table 1 ... 66.7% preschool age group and drivers had 16.7% each. Table I : Age distribution of; patients with testicular tumours. Age group Number Percent in years.

  5. β-Tocopherol (vitamin E) attenuates the testicular toxicity associated ...

    African Journals Online (AJOL)

    days after cryptorchidism induction, bilateral testicular weight, bilateral testicular volume, bilateral caudal epididymal sperm characteristics, bilateral testicular histology and serum hormone levels were all tested. Most of the above parameters were significantly lower (P < 0.05) in Groups B and C compared to Group A. The ...

  6. Case Report: A Testicular Leydig Cell Tumor with Azoospermia; Re ...

    African Journals Online (AJOL)

    Leydig tumor is relatively a rare testicular tumor but the most common non-germ cell gonadal tumor. It constitutes about 1-3% of all testicular tumors. Clinically, it is usually presented as a testicular mass or with endocrine symptoms, which include gynecomastia, increased sex hormone levels, and other correlated symptoms.

  7. Case series on testicular torsion: an educational emergency for sub ...

    African Journals Online (AJOL)

    305 records ... Testicular torsion remains a common surgical emergency of adolescent males presenting with sudden onset of intense scrotal pain in Africa. While the magnitude of testicular torsion is not known it has been identified as a cause of male infertility. Testicular loss in Africa is directly related to delay in surgery and ...

  8. Three cases of thyroid cancer following the diagnosis of testicular cancer: treatment-related complication or genetics?

    Science.gov (United States)

    Spiliopoulou, Pavlina; Bowers, Sarah Pauline; Gibson, Sarah; White, Jeff; Reed, Nick

    2016-05-01

    Large-scale epidemiological studies have shown that the incidence of second primary thyroid cancer in subjects diagnosed and treated for testicular cancer is raised. This finding is strongly associated to treatment with radiotherapy and/or chemotherapy and it is explained by their mutagenic effect. On the other hand, inherited cancer susceptibility syndromes inducing both testicular and thyroid cancers denote that these tumours might share common genomic aberrations. We herein present our experience with three cases of metachronous development of thyroid cancer after diagnosis and treatment of testicular cancer in our tertiary cancer centre. Our case report contributes to the limited available literature on such findings and aims to raise awareness of the cancer physicians treating these particular tumour types. © The Author(s) 2016.

  9. Effects of x-irradiation on steroid biotransformations by testicular tissue. Final report, May 1, 1966--July 31, 1976. [Rats

    Energy Technology Data Exchange (ETDEWEB)

    Ellis, L.C.

    1976-08-01

    A number of parameters of testicular and body function were investigated after various dosages of x-irradiation to ascertain: what relationship they have to the radiation syndrome and testicular repression and regeneration of the rat; and how sensitive these parameters are to radiation. Changes in androgen synthesis were not well correlated with either body or gonad weights, hematocrit values or testicular histology. Lipid peroxidation, catalase activity, metabolism of testosterone, prostaglandins, cyclic nucleotides and serotonin metabolism were all related to the direct effects of radiation on the male gonad. Indirect effects on the testis appear to be mediated by serotonin and the pineal gland. The pineal gland appeared to be responsible for variations in androgen synthesis and radiosensitivity of the testis through its secretory products-melatonin and arginine vasopressin. These compounds have the capacity of inducing endocrine rhythms by affecting: the hypothalamus-pituitary axis; the liver; and/or the gonad directly.

  10. Factors Influencing Rate of Testicular Salvage in Acute Testicular Torsion at a Tertiary Pediatric Center

    Directory of Open Access Journals (Sweden)

    Ramachandra, Puneeta

    2015-01-01

    Full Text Available Introduction: Studies have demonstrated that variables other than duration of symptoms can affect outcomes in children with acute testicular torsion. We examined demographic and logistical factors, including inter-hospital transfer, which may affect outcomes at a tertiary pediatric referral center. Methods: We reviewed charts of all pediatric patients with acute testicular torsion during a five-year period. Data were collected regarding age, insurance type, socioeconomic status, duration of symptoms prior to presentation, transfer status, time of day, time to surgical exploration, and testicular salvage. Results: Our study included 114 patients. Testicular salvage was possible in 55.3% of patients. Thirty-one percent of patients included in the study were transferred from another facility. Inter-hospital transfer did not affect testicular salvage rate. Time to surgery and duration of pain were higher among patients who underwent orchiectomy versus orchidopexy. Patients older than eight years of age were more likely to undergo orchidopexy than those younger than eight (61.5% vs. 30.4%, p=0.01. Ethnicity, insurance type, or time of day did not affect the testicular salvage rates. On multivariate analysis, only duration of symptoms less than six hours predicted testicular salvage (OR 22.5, p<0.001. Conclusion: Even though inter-hospital transfer delays definitive surgical management, it may not affect testicular salvage rates. Time to presentation is the most important factor in predicting outcomes in children with acute testicular torsion. [West J Emerg Med. 2015;16(1:190–194.

  11. Comet assay on mice testicular cells

    DEFF Research Database (Denmark)

    Sharma, Anoop Kumar

    2015-01-01

    for germ cell mutagens (Speit et al., 2009). The in vivo Comet assay is considered a useful tool for investigating germ cell genotoxicity. In the present study DNA strand breaks in testicular cells of mice were investigated. Different classes of chemicals were tested in order to evaluate the sensitivity...... of the comet assay in testicular cells. The chemicals included environmentally relevant substances such as Bisphenol A, PFOS and Tetrabrombisphenol A. Statistical power calculations will be presented to aid in the design of future Comet assay studies on testicular cells. Power curves were provided...... with different fold changes in % tail DNA, different number of cells scored and different number of gels (Hansen et al., 2014). An example is shown in Figure 1. A high throughput version of the Comet assay was used. Samples were scored with a fully automatic comet assay scoring system that provided faster...

  12. Bilateral variations of renal and testicular arteries

    Directory of Open Access Journals (Sweden)

    Gurses IA

    2009-05-01

    Full Text Available The variations of the arteries that develop from the mesonephric arteries – including renal, gonadal and suprarenal arteries – are common. Understanding the anatomy of the vascular variations of this region is essential for the clinicians to perform procedures such as renal transplantation, interventional radiologic procedures and renal vascular operations more safely and efficiently. In order to facilitate the clinical approaches, we present a male cadaver with bilateral double renal arteries accompanied with doubled right testicular arteries and a left testicular artery of high origin, and we discuss the surgical, radiologic and possible embryologic aspects.

  13. Association of Torsion With Testicular Cancer: A Retrospective Study.

    Science.gov (United States)

    Uguz, Sami; Yilmaz, Sercan; Guragac, Ali; Topuz, Bahadır; Aydur, Emin

    2016-02-01

    Testicular torsion is a medical emergency that usually requires surgical exploration. However, testicular malignancy has been anecdotally reported with the association of torsion in surgical specimens, and the published data remain scant on the association of torsion with testicular tumors. By retrospective medical record review, we identified 32 patients who had been diagnosed with testicular torsion, 20 of whom had undergone orchiectomy. Of these 20 patients, 2 were diagnosed with a malignancy. Our study, the largest case series to date, has shown an association between testicular torsion and testicular cancer of 6.4%. Testicular torsion is a medical emergency that usually requires surgical exploration. However, testicular malignancy has been anecdotally reported in association with torsion in surgical specimens. However, the published data remain scant on the association between torsion and the presence of testicular tumors. The present retrospective study explored the association between torsion and testicular cancer in patients with testicular torsion undergoing orchiectomy during scrotal exploration. A medical record review was performed of patients who had had a diagnosis of testicular torsion from January 2003 to February 2015. The clinicopathologic characteristics of the patients were recorded. A total of 32 patients were identified. Their mean age was 21.1 years (range, 7-39 years). All the patients had unilateral testicular torsion, which affected the left side in 17 and the right side in 15. Manual detorsion was successful in 6 patients, and 26 patients underwent emergency surgery with testicular detorsion (6 fixation surgery and 20 orchiectomy). The type of incision was scrotal in 6, inguinal in 10, and unspecified in 4. Pathologic examination of the orchiectomy specimens showed malignancy in 2 cases (seminoma and malign mixed germ cell tumor). To the best of our knowledge, the present single-center case series is the largest case series to date of

  14. Tuberculous orchitis mimicking a testicular tumor: A diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Seema Dayal

    2014-03-01

    Full Text Available A 37-year old man presented with 5 months history of left scrotal mass and had underwent left orchidectomy following a presumptive diagnosis of testicular tumour. Histopathological diagnosis of testicular tuberculosis was subsequently made, which revealed a case of isolated TB orchitis. It signifies that the careful evaluation of patients with testicular mass is extremely significant for diagnostic accuracy, optimal treatment and avoiding unnecessary surgery in case of testicular tuberculosis. Simultaneously it will also help in early detection of testicular malignancies and vital for the clinicians to avoid negligence charges.

  15. Testicular microlithiasis in paediatric age; Microlitiasis testiculares en la edad pediatrica

    Energy Technology Data Exchange (ETDEWEB)

    Sanguesa, C.; Muro, D.; Dominguez, C. [Hospital Infantil La Fe. Valencia (Spain)

    2002-07-01

    To evaluate the eco graphic patters of testicular microlithiasis (TM) in paediatric age, its associations, clinical implications and how to manage them. We study four children between 11 and 13 years old with testicular microlithiasis. The echographic study is realized with a 7.5 Mhz linear probe. Two of the cases present bilateral microlithiasis. In five of the testicles, the presentation fits the pattern of classic testicular microlithiasis (CTM) ({>=} 5 echogenic foci per transducer field) and one testicle presents limited testicular microlithiasis (< 5 echogenic foci per transducer field). Distribution in the case of CTM is diffuse in two testes, peripheral in another two testicles and central in one of them. In one of the bilateral presentations, a biopsy of both testes is performed, observing intra tubular calcification in both. None of them has developed a tumor during the follow-up period, which ranges from nine months to four years. (Author) 21 refs.

  16. Fertilization after intracytoplasmic sperm injection with cryopreserved testicular spermatozoa.

    Science.gov (United States)

    Romero, J; Remohí, J; Mínguez, Y; Rubio, C; Pellicer, A; Gil-Salom, M

    1996-04-01

    To assess the possibility of cryopreserving testicular tissue extracted sperm for intracytoplasmic sperm injection (ICSI). A report of two cases. Our study was approved by the Ethical Committee at the Instituto Valenciano de Infertilidad. In vitro fertilization program at the Instituto Valenciano de Infertilidad. Two azoospermic patients with severe spermatogenic failure but with focal spermatogenesis on testicular biopsies. In both cases, a first ICSI attempt with fresh testicular biopsy extracted sperm was unsuccessful. Cryopreservation of testicular spermatozoa in 100-micro L "pills." Intracytoplasmic sperm injection with thawed testicular spermatozoa. Fertilization rate, cleavage rate, embryo quality, clinical pregnancy. Fertilization rates were 36 percent and 100 percent after ICSI with fresh testicular spermatozoa, and 63 percent and 57 percent after ICSI with cryopreserved testicular sperm. In both cases, cleavage rates and embryo quality were similar when using fresh and cryopreserved testicular spermatozoa. No clinical pregnancies were achieved. High fertilization rates can be obtained after ICSI with frozen-thawed testicular tissue extracted spermatozoa. Cryopreservation of testicular sperm may avoid repetition of testicular biopsies in azoospermic patients in whom the only source of spermatozoa is the testicle.

  17. Neuroimaging Features of San Luis Valley Syndrome

    Directory of Open Access Journals (Sweden)

    Matthew T. Whitehead

    2015-01-01

    Full Text Available A 14-month-old Hispanic female with a history of double-outlet right ventricle and developmental delay in the setting of recombinant chromosome 8 syndrome was referred for neurologic imaging. Brain MR revealed multiple abnormalities primarily affecting midline structures, including commissural dysgenesis, vermian and brainstem hypoplasia/dysplasia, an interhypothalamic adhesion, and an epidermoid between the frontal lobes that enlarged over time. Spine MR demonstrated hypoplastic C1 and C2 posterior elements, scoliosis, and a borderline low conus medullaris position. Presented herein is the first illustration of neuroimaging findings from a patient with San Luis Valley syndrome.

  18. Two cases of Dandy-Walker syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Chul Koo; Chang, Kee Hyun [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1982-06-15

    Two cases of Dandy- Walker syndrome are reported with emphasis on CT findings. The Dandy-Walker syndrome is known to be a developmental anomaly, which is a congenital cystic dilatation of the fourth ventricle due to atresia of foramen Magendie and possibly also foramen Luschka, associated with some form of vermian dysgenesis. The CT finding of one cases reveal huge cystic mass in midline of the posterior cranial fossa with small compressed cerebellar hemisphere in the lateral portion, associated with hydrocephalus. The other shows semilunar-shaped cystic mass in posterior cranial fossa with anteriorly displaced cerebellum, which communicates with apparent fourth ventricle through the vallecula. Both cases show no inferior.

  19. Oxandrolone in growth hormone-treated girls with Turner syndrome

    OpenAIRE

    Menke, Leonie Alexandra

    2010-01-01

    Turner syndrome (TS) is a disorder in females that is caused by the complete or partial absence of the second sex chromosome. The main characteristics are gonadal dysgenesis and short stature, with adult patients being on average 20 cm shorter than healthy women. Growth hormone (GH) therapy increases adult height with 5 to 12 cm and the addition of the weak androgen oxandrolone (Ox) may further increase adult height. This thesis describes the results of the first randomized, double-blind, pla...

  20. 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

    Science.gov (United States)

    Werner, Ralf; Merz, Hartmut; Birnbaum, Wiebke; Marshall, Louise; Schröder, Tatjana; Reiz, Benedikt; Kavran, Jennifer M; Bäumer, Tobias; Capetian, Philipp; Hiort, Olaf

    2015-07-01

    46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. The objective of the study was to identify the genetic cause in two 46,XY sisters of a consanguineous family with DSD and gonadal tumor formation. We used a next-generation sequencing approach by exome sequencing. Electrophysiological and high-resolution ultrasound examination of peripheral nerves as well as histopathological examination of the gonads were performed. We identified a novel homozygous R124Q mutation in the desert hedgehog gene (DHH), which alters a conserved residue among the three mammalian Hedgehog ligands sonic hedgehog, Indian hedgehog, and desert hedgehog. No other relevant mutations in DSD-related genes were encountered. The gonads of one patient showed partial gonadal dysgenesis with loss of Leydig cells in tubular areas with seminoma in situ and a hyperplasia of Leydig cell-like cells expressing CYP17A1 in more dysgenetic parts of the gonad. In addition, both patients suffer from a polyneuropathy. High-resolution ultrasound revealed a structural change of peripheral nerve structure that fits well to a minifascicle formation of peripheral nerves. Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation. Gonadal dysgenesis in these cases may be due to impairment of Sertoli cell-Leydig cell interaction during gonadal development.

  1. Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.

    Science.gov (United States)

    Bastian, Claire; Muller, Jean-Baptiste; Lortat-Jacob, Stephen; Nihoul-Fékété, Claire; Bignon-Topalovic, Joelle; McElreavey, Ken; Bashamboo, Anu; Brauner, Raja

    2015-05-01

    To assess genetic mutations and associated somatic anomalies in a series of patients with 46,XY gonadal dysgenesis (GD). Single center retrospective study. University pediatric hospital. Fourteen patients with 46,XY GD. None. Genotype-phenotype relationship. The presenting symptom was disorders of sex development (6 patients), primary amenorrhea (2 patients), discordance between 46,XY karyotype and female external genitalia (3 patients), discovery of Müllerian structures at surgery (2 patients), or diagnosed in the evaluation of a gonadal tumor (1 patient). Müllerian structures were shown by ultrasound evaluation in 7 of 13 patients, genitography in 3 of 6 patients and/or surgery in 8 of 10 patients (3 not seen at imaging), or only by histologic examination (1 patient). Three patients had gonadoblastoma and/or seminoma. A mutation was found in 7 patients of whom 2 had family history of reproductive problems and 5 had associated somatic anomalies. The mutations were FOG2/ZFPM2 (1 patient), SRY (2 patients), WT1 (1 patient), or deletions of distal chromosome 9p (3 patients). Among the three other patients with associated anomalies and no mutation, two had ectodermal dysplasia and one had leukemia. Mutations were observed in half of the patients with 46,XY GD with Müllerian structures. We also describe for the first time the association between GD and ectodermal dysplasia. Müllerian structures can be found in some cases only by histologic examination, which should be coupled to preventive gonadectomy because of the risk of tumor formation. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  2. Dendritic spine dysgenesis in superficial dorsal horn sensory neurons after spinal cord injury.

    Science.gov (United States)

    Cao, Xiaoyu C; Pappalardo, Laura W; Waxman, Stephen G; Tan, Andrew M

    2017-01-01

    Neuropathic pain is a major complication of spinal cord injury, and despite aggressive efforts, this type of pain is refractory to available clinical treatment. Our previous work has demonstrated a structure-function link between dendritic spine dysgenesis on nociceptive sensory neurons in the intermediate zone, laminae IV/V, and chronic pain in central nervous system and peripheral nervous system injury models of neuropathic pain. To extend these findings, we performed a follow-up structural analysis to assess whether dendritic spine remodeling occurs on superficial dorsal horn neurons located in lamina II after spinal cord injury. Lamina II neurons are responsible for relaying deep, delocalized, often thermally associated pain commonly experienced in spinal cord injury pathologies. We analyzed dendritic spine morphometry and localization in tissue obtained from adult rats exhibiting neuropathic pain one-month following spinal cord injury. Although the total density of dendritic spines on lamina II neurons did not change after spinal cord injury, we observed an inverse relationship between the densities of thin- and mushroom-shaped spines: thin-spine density decreased while mushroom-spine density increased. These structural changes were specifically noted along dendritic branches within 150 µm from the soma, suggesting a possible adverse contribution to nociceptive circuit function. Intrathecal treatment with NSC23766, a Rac1-GTPase inhibitor, significantly reduced spinal cord injury-induced changes in both thin- and mushroom-shaped dendritic spines. Overall, these observations demonstrate that dendritic spine remodeling occurs in lamina II, regulated in part by the Rac1-signaling pathway, and suggests that structural abnormalities in this spinal cord region may also contribute to abnormal nociception after spinal cord injury.

  3. Elevated testosterone levels in a racing horse due to an XY testicular disorder of sexual development.

    Science.gov (United States)

    Dierks, Claudia; Sieme, Harald; Piechotta, Marion; Lehner, Stephanie; Merkt, Jan Carlos; Uphaus, Hubert; Klug, Erich; Distl, Ottmar

    2015-01-01

    A female thoroughbred successful in horse racing was positively tested for high testosterone values. This horse neither showed stallion-like-behaviour nor signs of ambiguous external genitalia. The karyotype of this horse was 2n = 64,XY and the sex-determining region of Y (SRY) PCR was positive. Hair samples tested for naturally testosterone revealed values normal for stallions, and tests for eight synthetic testosterone esters remained negative. The phenotype, ultrasonographic examination, hormone status, cytogenetic evaluation and molecular diagnostics lead to the diagnosis of an XY testicular disorder of sexual development (DSD) due to a complete androgen insensitivity syndrome. To our knowledge this is the first report about a thoroughbred in racing sports with an XY testicular disorder of sexual development. To date, intersex racing horses have never been described in thoroughbreds or a regulation for intersexes in regard to horse races has been issued.

  4. Puberty induction in Turner syndrome: Results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels

    NARCIS (Netherlands)

    Bannink, E.M.N.; Sassen, C. van; Buuren, S. van; Jong, F.H. de; Lequin, M.; Mulder, P.G.H.; Muinck Keizer-Schrama, S.M.P.F. de

    2009-01-01

    Background: Besides short stature, gonadal dysgenesis leading to a lack of oestrogen is one of the main characteristics of Turner syndrome (TS). In most TS girls, puberty is induced with exogenous oestrogens. Objective: To describe the pubertal development and uterine dimensions achieved by low-dose

  5. Long-term effects of oxandrolone treatment in childhood on neurocognition, wellbeing and social-emotional functioning in young adults with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Verhaak, C.M.; Sas, T.C.J.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

    2015-01-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

  6. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Verhaak, C.M.; Sas, T.C.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Keizer-Schrama, S.M.; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

    2015-01-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

  7. Bilateral extracorporeal testicular ectopia: An extremely rare ...

    African Journals Online (AJOL)

    B.M. Abubakar

    2015 Pan African Urological Surgeons' Association. Production and hosting by Elsevier B.V. All rights reserved. Introduction. Extracorporeal testicular ectopia is very rare. It is also referred to as scrotoschisis [1]. The few cases described in the literature mostly refertounilateralscrotoschisis.Theactualetiologyoftheanomalyis.

  8. Abrogation by human menopausal gonadotropin on testicular ...

    African Journals Online (AJOL)

    Cisplatin is one of the most effective chemotherapeutic agents used in the treatment of cancer cells including testicular cancer. Human Menopausal Gonadotropin (HMG) is a natural hormone necessary for human reproduction. This hormone is a leading modality of treatment for infertility as it contains equal amount of ...

  9. Simultaneous acute appendicitis with right testicular torsion

    Directory of Open Access Journals (Sweden)

    Tanveer Akhtar

    2012-01-01

    Full Text Available We present a child with both acute appendicitis and torsion of the right testis presenting at the same time. Testicular torsion possibly occurring due to vomiting in acute appendicitis so far has not been reported in the literature.

  10. Testicular Cancer Survivorship : Research Strategies and Recommendations

    NARCIS (Netherlands)

    Travis, Lois B.; Beard, Clair; Allan, James M.; Dahl, Alv A.; Feldman, Darren R.; Oldenburg, Jan; Daugaard, Gedske; Kelly, Jennifer L.; Dolan, M. Eileen; Hannigan, Robyn; Constine, Louis S.; Oeffinger, Kevin C.; Okunieff, Paul; Armstrong, Greg; Wiljer, David; Miller, Robert C.; Gietema, Jourik A.; van Leeuwen, Flora E.; Williams, Jacqueline P.; Nichols, Craig R.; Einhorn, Lawrence H.; Fossa, Sophie D.

    2010-01-01

    Testicular cancer represents the most curable solid tumor, with a 10-year survival rate of more than 95%. Given the young average age at diagnosis, it is estimated that effective treatment approaches, in particular, platinum-based chemotherapy, have resulted in an average gain of several decades of

  11. Early life risk factors for testicular cancer

    DEFF Research Database (Denmark)

    Piltoft, Johanne Spanggaard; Larsen, Signe Benzon; Dalton, Susanne Oksbjerg

    2017-01-01

    PURPOSE: One established risk factors for testicular cancer is cryptorchidism. However, it remains unclear whether cryptorchidism is a risk factor in itself or whether the two conditions share common causes in early life (estrogen hypothesis), such as birth weight and birth order. The objective...

  12. Case report: Traumatic unilateral testicular rupture

    Directory of Open Access Journals (Sweden)

    Natasha J.G. Bauer

    2016-01-01

    Conclusion: Emergency assessment and diagnosis as well as scrotal exploration are important components of the management of acute testicular rupture. Analysis of the literature proves that timely surgical intervention is crucial; early intervention results in higher rates of preservation and avoids the need for an orchidectomy.

  13. Testicular Vasculitis: A Sonographic and Pathologic Diagnosis

    Directory of Open Access Journals (Sweden)

    Anuj Dixit

    2017-01-01

    Full Text Available Very little has been published about single-organ vasculitis of the testicle in the radiological literature. Consequently, it is a diagnosis that is unfamiliar to most radiologists. This case report describes the sonographic, pathologic, and laboratory findings of testicular vasculitis and reviews the available literature with regard to this subject.

  14. Bilateral Variations of the Testicular Vessels: Embryological ...

    African Journals Online (AJOL)

    Bilateral Variations of the Testicular Vessels: Embryological Background and Clinical Implications. Yogesh Diwan, Rikki Singal1, Deepa Diwan, Subhash Goyal1, Samita Singal2, Mausam Kapil1. Department of Anatomy, Indira Gandhi Medical College, Shimla, 1Surgery and 2Radiology, Maharishi Markandeshwer Institute ...

  15. Review: Environmental endocrine disruptors of testicular function ...

    African Journals Online (AJOL)

    In the last 50 years the incidence of infertility, testicular and prostate cancers and associated maladies has increased significantly. Infertility now affects 15-20% of couples as opposed to 7-8% fifty years ago. Average sperm counts among adult men have decreased by 50% since 1938, with a decline of 2% every year from ...

  16. Misdiagnosed Adult Testicular Torsion: Case Report | Ndaguatha ...

    African Journals Online (AJOL)

    Adult testicular torsion is thought to be rare if not relatively unusual. The rarity could be an underestimation since there are many episodes of missed torsions and misdiagnosis with other conditions of acute scrotum despite the now widespread ultra sound availability that are being reported in the literature. Such a ...

  17. Study of intra testicular regulations of spermatogenesis ...

    African Journals Online (AJOL)

    Study of intra testicular regulations of spermatogenesis differentiation by ex-vivo approach. A Adaika, B Barenton, P Durand. Abstract. The aim of this work is to study the regulation of intratesticular during spermatogenesis ex vivo. To highlight the progress of spermatogenesis ex vivo, we developed two cell culture systems ...

  18. TESTICULAR TORSION: CASE REPORT R. T. KUREMU ...

    African Journals Online (AJOL)

    hi-tech

    2004-05-05

    May 5, 2004 ... Possible precipitating factors in testicular torsion include cold, exercise, sexual fore play, abnormal position during sleep or sitting, sudden closing of thighs, trauma, tight pants, coughing and defection(2). Early diagnosis remains a clinical challenge. Even though the clinical features of torsion are typical, the.

  19. The Correlation between Ultrasound Testicular Volume and Conventional Semen Parameters in Albanian Subfertile Males

    Directory of Open Access Journals (Sweden)

    Adrian Kristo

    2014-09-01

    CONCLUSION: Testicular volume has a direct correlation with semen parameters and the critical total testicular volume indicating normal testicular function is approximately 26.6 ml (the mean testicular volume 13.3 ml. The measurement of testicular volume can be helpful for assessing fertility at the initial physical examination.

  20. EAU guidelines on testicular cancer: 2011 update.

    Science.gov (United States)

    Albers, Peter; Albrecht, Walter; Algaba, Ferran; Bokemeyer, Carsten; Cohn-Cedermark, Gabriella; Fizazi, Karim; Horwich, Alan; Laguna, Maria Pilar

    2011-08-01

    On behalf of the European Association of Urology (EAU), guidelines for the diagnosis, therapy, and follow-up of testicular cancer were established. This article is a short version of the EAU testicular cancer guidelines and summarises the main conclusions from the guidelines on the management of testicular cancer. Guidelines were compiled by a multidisciplinary guidelines working group. A systematic review was carried out using Medline and Embase, also taking Cochrane evidence and data from the European Germ Cell Cancer Consensus Group into consideration. A panel of experts weighted the references, and a level of evidence and grade of recommendation were assigned. There is a paucity of literature especially regarding longer term follow-up, and results from a number of ongoing trials are awaited. The choice of treatment centre is of the utmost importance, and treatment in reference centres within clinical trials, especially for poor-prognosis nonseminomatous germ cell tumours, provides better outcomes. For patients with clinical stage I seminoma, based on recently published data on long-term toxicity, adjuvant radiotherapy is no longer recommended as first-line adjuvant treatment. The TNM classification 2009 is recommended. These guidelines contain information for the standardised management of patients with testicular cancer based on the latest scientific insights. Cure rates are generally excellent, but because testicular cancer mainly affects men in their third or fourth decade of life, treatment effects on fertility require careful counselling of patients, and treatment must be tailored taking individual circumstances and patient preferences into account. Copyright © 2011 European Association of Urology. Published by Elsevier B.V. All rights reserved.

  1. Testicular cancer and HPV semen infection

    Directory of Open Access Journals (Sweden)

    Andrea eGarolla

    2012-12-01

    Full Text Available Testicular cancer represents the more frequent solid tumour affecting males aged 15-35 years.In the last decades, its incidence showed a progressive increased probably due to genetic and environmental factors. Despite exposure to some viruses such as HIV, HCV, EBV and HPV is frequently related to cancer development, there are no studies aimed to evaluate the possible implication of viral infections in the pathogenesis of testicular cancer. In this study we analyzed sperm parameters and prevalence of HPV on sperm in 155 testicular cancer patients at diagnosis (T-1, after orchiectomy (T0 and after 12 months from surgery or from the end of adjuvant treatments (T12. All patients showed a significantly higher prevalence of semen infection than controls (9.5% and 2.4% respectively and altered sperm parameters both at T-1 and T0. Considering sperm parameters, at T-1 we observed a reduction of progressive motility, and after orchiectomy patients showed a reduction of sperm concentration and count and a further worsening of motility. Thereafter, patients were assigned to three groups on the basis of medical option after surgery: S = surveillance, R = radiotherapy and C = chemotherapy +/- radiotherapy. At T12, untreated patients had an improvement of sperm parameters while R group and even more C group had a strong decrease of sperm number (p<0.01 both vs T0 and S group. Moreover, patients who received radio and/or chemotherapy had a very high prevalence of HPV semen infection (S: 7.7%, R: 30.8% and C: 61.5%. In conclusion, patients with testicular cancer had frequently altered sperm parameters and higher prevalence of HPV semen infection that were worsened after radio and chemotherapy. Because HPV infection is a risk factor for cancer development and it may further reduce fertility, we suggest screening for HPV in testicular cancer patients at diagnosis and particularly after adjuvant treatments.

  2. Testicular cancer and HPV semen infection.

    Science.gov (United States)

    Garolla, Andrea; Pizzol, Damiano; Bertoldo, Alessandro; Ghezzi, Marco; Carraro, Umberto; Ferlin, Alberto; Foresta, Carlo

    2012-01-01

    Testicular cancer represents the more frequent solid tumor affecting males aged 15-35 years. In the last decades, its incidence showed a progressive increased probably due to genetic and environmental factors. Despite exposure to some viruses such as HIV, HCV, EBV, and HPV is frequently related to cancer development, there are no studies aimed to evaluate the possible implication of viral infections in the pathogenesis of testicular cancer. In this study, we analyzed sperm parameters and prevalence of HPV on sperm in 155 testicular cancer patients at diagnosis (T-1), after orchiectomy (T0) and after 12 months from surgery or from the end of adjuvant treatments (T12). All patients showed a significantly higher prevalence of semen infection than controls (9.5% and 2.4% respectively,) and altered sperm parameters both at T-1 and T0. Considering sperm parameters, at T-1 we observed a reduction of progressive motility, and after orchiectomy patients showed a reduction of sperm concentration and count and a further worsening of motility. Thereafter, patients were assigned to three groups on the basis of medical option after surgery: S = surveillance, R = radiotherapy, and C = chemotherapy +/- radiotherapy. At T12, untreated patients had an improvement of sperm parameters while R group and even more C group had a strong decrease of sperm number (p HPV semen infection (S = 7.7%, R = 30.8%, and C = 61.5%). In conclusion, patients with testicular cancer had frequently altered sperm parameters and higher prevalence of HPV semen infection that were worsened after radio and chemotherapy. Because HPV infection is a risk factor for cancer development and it may further reduce fertility, we suggest screening for HPV in testicular cancer patients at diagnosis and particularly after adjuvant treatments.

  3. Posterior fossa dermoid cyst in a patient with Goldenhar syndrome.

    Science.gov (United States)

    Dange, N; Bonde, V; Goel, A; Muzumdar, D

    2007-01-01

    A 7-year-old boy with Goldenhar syndrome was diagnosed to have a posterior cranial fossa dermoid cyst. The presence of such a combination of clinical entities has not been reported earlier. The embryonic dysgenesis causing midline posterior fossa dermoid and other anomalies observed in Goldenhar syndrome occur between the third and fifth week of intrauterine life and are probably interrelated. This report emphasizes the need for a high index of suspicion and the value of cranial imaging in a case with Goldenhar syndrome. (c) 2007 S. Karger AG, Basel.

  4. Beneficial value of testicular sperm extraction-AgarCyto in addition to the standard testicular biopsy for diagnosis of testicular germ cell tumors in nonobstructive azoospermia

    NARCIS (Netherlands)

    Hessel, M.L.; Ramos, L.; D'Hauwers, K.W.M.; Braat, D.D.M.; Hulsbergen-van de Kaa, C.A.

    2016-01-01

    OBJECTIVE: To study whether immunohistochemical detection of germ cell neoplasia in situ (GCNIS) in AgarCytos, made of the remnants of the testicular sperm extraction (TESE) specimen, is equally accurate as in a standard testicular biopsy. DESIGN: Prospective cohort study performed between January

  5. Association of testicular echogenicity, scrotal circumference, testicular volume and testosterone concentration in buffaloes

    Directory of Open Access Journals (Sweden)

    Henry D.M. Ayala

    2016-12-01

    Full Text Available ABSTRACT. Ayala H.D.M., Ribeiro H.F.L., Rolim Filho S.T., Silva E.V.C. & Vale W.G. Association of testicular echogenicity, scrotal circumference, testicular volume and testosterone concentration in buffaloes. [Associação entre a ecogenicidade, circunferência escrotal, volume testicular e concentração de testosterona em búfalos.] Revista Brasileira de Medicina Veterinária, 38(4:334-340, 2016. Programa de Pós-Graduação em Ciencia Animal, Universidade Federal do Pará, Rua Augusto Corrêa 1, Campus Universitário do Guamá, Belém, PA 66075-110, Brazil. E-mail wm.vale@hotmail.com This article aimed to discuss the changes in the testicular parenchyma, analyzed by the use of ultrasonography, and correlates them with the testicular biometric parameters and testosterone concentration in crossed Murrah x Mediterranean buffaloes. Nineteen buffaloes, with initial ages between 11 and 59 months,were submitted to fortnightly collections of semen for a period of six months. At each collection the testicular biometry and testicular echogenicity were evaluated as well as blood samples were also collected to measure the plasma testosterone levels. The data were submitted to analysis of variance by the GLM procedure, considering the age group fixed effect. The average data obtained were compared by the Duncan test, at 5% significance. There was a significant growth (P<0.05 of the scrotal circumference, which varied from 12.88±0.51 cmto 31.18±0.75 cm among animals aged 12 to 60 months, as well as testicular volume, which ranged from 30.28±17.37 to 611.96±38.69 cm³ among the animals. The echogenic intensity of the testicular parenchyma varied in pixels from 78.67±6.36 to 109.24±3.13 in animals aged 12 to 60 months respectively. In the animals with ages between 12 and 19 months was observed levels of testosterone considered being low, whereas in the animals from 20 to 21 months there was a progressive increase in the testosterone levels, which

  6. Dysgenesis and histological changes of genitals and perturbations of gene expression in male rats after in utero exposure to antiandrogen mixtures

    DEFF Research Database (Denmark)

    Metzdorff, Stine Broeng; Dalgaard, Majken; Christiansen, Sofie

    2007-01-01

    end points, the joint effects of the three antiandrogens were dose additive. Histological evaluations showed that dysgenesis and hypoplasia of prostates, seminal vesicles, and epididymis were seen with the highest mixture doses. No changes were observed in any single-compound low-dose group...

  7. A Rare Complication of Brucellosis: Testicular Abscess

    Directory of Open Access Journals (Sweden)

    Ümit Gul

    2016-01-01

    Full Text Available Brucellosis is a zoonosis caused by Brucella species. Brucella epididymo-orchitis had been reported in up to 20% of patients with brucellosis. This case was a male patient who developed Brucella epidiymo-orchitis and testicular abscess. He had fever, arthralgia and his right epididymis and right testicle were enlarged and tender. Ultrasound evaluation showed hypertrophy of the right epididymis and testis and moreover hypoechoic area within the testis. Brucella serology was positive and the patient did not respond completely to treatment with streptomycin, doxycycline, and rifampicina. Unilateral orchidectomy was decided. In areas where brucella infection is endemic brucella epididymo-orchitis should be considered in the differential diagnosis. Effective and rapid treatment is important. It should be noted that these patients may develop testicular abscess.

  8. A Rare Cause of Testicular Metastasis: Upper Tract Urothelial Carcinoma

    Directory of Open Access Journals (Sweden)

    Alper Nesip Manav

    2014-01-01

    Full Text Available Metastatic testicular cancers are rare. Primary tumor sources are prostate, lung, and gastrointestinal tract for metastatic testicular cancers. Metastasis of urothelial carcinoma (UC to the testis is extremely rare. Two-thirds of upper tract urothelial carcinoma (UTUC is of invasive stage at diagnosis and metastatic sites are the pelvic lymph nodes, liver, lung, and bone. We report a rare case of metastatic UTUC to the testis which has not been reported before, except one case in the literature. Testicular metastasis of UC should be considered in patients with hematuria and testicular swelling.

  9. Perspectives on testicular germ cell neoplasms.

    Science.gov (United States)

    Cheng, Liang; Lyu, Bingjian; Roth, Lawrence M

    2017-01-01

    Our knowledge of testicular germ cell neoplasms has progressed in the last few decades due to the description of germ cell neoplasia in situ (GCNIS) and a variety of specific forms of intratubular germ cell neoplasia, the discovery of isochromosome 12p and its importance in the development of invasiveness in germ cell tumors (GCTs), the identification of specific transcription factors for GCTs, and the recognition that a teratomatous component in mixed GCT represents terminal differentiation. Isochromosome 12p and 12p overrepresentation, collectively referred to as 12p amplification, are fundamental abnormalities that account for many types of malignant GCTs of the testis. Embryonal carcinoma is common in the testis but rare in the ovary, whereas the converse is true for mature cystic teratoma. Spermatocytic tumor occurs only in the testis; it has not been described in the ovary or extragonadal sites. The origin of ovarian mature cystic teratoma is similar to that of prepubertal-type testicular teratoma and dermoid cyst at any age in that it arises from a nontransformed germ cell, whereas postpubertal-type testicular teratoma arises from a malignant germ cell, most commonly through the intermediary of GCNIS. Somatic neoplasms, often referred to as monodermal teratomas, arise not infrequently from mature cystic teratoma of the ovary, whereas such neoplasms are rare in testicular teratoma with the exception of carcinoid. Integration of classical morphologic observations and emerging novel molecular studies will result in better understanding of the pathogenesis of GCTs and will optimize patient therapy. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Comet assay on mice testicular cells

    Directory of Open Access Journals (Sweden)

    Anoop Kumar Sharma

    2015-05-01

    Full Text Available Heritable mutations may result in a variety of adverse outcomes including genetic disease in the offspring. In recent years the focus on germ cell mutagenicity has increased and the “Globally Harmonized System of Classification and Labelling of Chemicals (GHS” has published classification criteria for germ cell mutagens (Speit et al., 2009. The in vivo Comet assay is considered a useful tool for investigating germ cell genotoxicity. In the present study DNA strand breaks in testicular cells of mice were investigated. Different classes of chemicals were tested in order to evaluate the sensitivity of the comet assay in testicular cells. The chemicals included environmentally relevant substances such as Bisphenol A, PFOS and Tetrabrombisphenol A. Statistical power calculations will be presented to aid in the design of future Comet assay studies on testicular cells. Power curves were provided with different fold changes in % tail DNA, different number of cells scored and different number of gels (Hansen et al., 2014. An example is shown in Figure 1. A high throughput version of the Comet assay was used. Samples were scored with a fully automatic comet assay scoring system that provided faster scoring of randomly selected cells.

  11. Cryopreservation of canine ovarian and testicular fibroblasts.

    Science.gov (United States)

    Yu, Il-Jeoung; Leibo, S P; Songsasen, Nucharin; Dresser, Betsy L; Kim, In-Shik

    2009-01-01

    To derive a practical procedure to store canine somatic cells, fibroblasts isolated from testicular or ovarian tissues were cryopreserved in 1.2 M ethylene glycol or in 1.2 M dimethylsulfoxide prepared in Dulbecco's Modified Eagle Medium as cryoprotectants, and were frozen either in plastic straws or vials. Thawed cells were cultured for 24 hr at 38.5 degree C in a humidified atmosphere of 5 percent CO2 95 percent air, and then their membrane integrity was assayed with a double fluorescent stain, Fertilight. In addition, frozen-thawed fibroblasts were cultured for 4 days, and then their functional survival was measured after staining small colonies with trypan blue. After freezing and thawing, membrane integrity of testicular fibroblasts was 55-70 percent and functional survival ranged from 20-40 percent. With frozen-thawed ovarian cells, the average membrane integrity was 55-75 percent and the average functional survival was 35-40 percent. When frozen in ethylene glycol, functional survival of ovarian fibroblasts was significantly higher than that of testicular cells (P less than 0.05). These methods should prove useful to preserve cells collected from canids in the wild.

  12. Testicular Histomorphometric Evaluation of Zebu Bull Breeds

    Directory of Open Access Journals (Sweden)

    Paulo Antônio Terrabuio Andreussi

    2014-12-01

    Full Text Available The objective of this study was to evaluate the quantitative histology and testicular biometrics in zebu bulls of different breeds. Testicular fragments of Nelore (n=10, Polled Nelore (n=6, Gir (n=5, Guzerat (n=5 and Tabapuã bulls (n=5 were used. The fragments were perfusion-fixed in Karnovsky solution, embedded in glycol methacrylate and stained with toluidine blue-1% sodium borate. The Nelore animals had a higher tubular volumetric proportion (85.2% and greater height of the seminiferous epithelium (73.2 µm than the Gir, Guzerat and Tabapuã breeds. The Nelore animals also had a higher volumetric proportion of Leydig cells (5.2% than the Guzerat and Tabapuã breeds. There was no significant difference for any of these parameters between the Nelore and Polled Nelore breeds. The gonadosomatic index, seminiferous tubule diameter, cross-sectional area of the seminiferous tubule and tubule length (total length and length per gram of testicular parenchyma did not vary among the breeds studied. The morphometric parameters evaluated suggested that the genetic selection applied to the Nelore and Polled Nelore breeds improved the efficiency of spermatogenesis in these breeders.

  13. Testicular Cancer Presenting as Gastric Variceal Hemorrhage

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Salazar-Mejía

    2017-01-01

    Full Text Available Testicular cancer is the most common solid malignancy affecting males between the ages of 15 and 35. The symptomatology caused by this tumor varies according to the site of metastasis. We present the case of a 26-year-old male who arrived to the emergency department with hematemesis. He had no previous medical history. On arrival, we noted enlargement of the left scrotal sac. There was also a mass in the left scrotum which provoked displacement of the penis and right testis. The serum alpha-fetoprotein level was 17,090 ng/mL, lactate dehydrogenase was 1480 U/L, and human chorionic gonadotropin was 287.4 IU/mL. Upper endoscopy revealed a type 1 isolated gastric varix, treated with cyanoacrylate. A CT scan showed extrinsic compression of the portal vein by lymphadenopathy along with splenic vein partial thrombosis, which caused left-sided portal hypertension. Neoadjuvant chemotherapy was started with etoposide and cisplatin, and seven days later the patient underwent left radical orchiectomy. A postoperative biopsy revealed a pure testicular teratoma. Noncirrhotic left portal hypertension with bleeding from an isolated gastric varix secondary to metastasic testicular cancer has not been described before. Clinicians must consider the possibility of malignancy in the differential diagnosis of a young man presenting with unexplained gastrointestinal bleeding.

  14. Perinatal testicular torsion and medicolegal considerations.

    Science.gov (United States)

    Massoni, F; Troili, G M; Pelosi, M; Ricci, S

    2014-06-01

    Perinatal testicular torsion (PTT) is a very complex condition because of rarity of presentation and diagnostic and therapeutic difficulties. In presence of perinatal testicular torsion, the involvement of contralateral testis can be present also in absence of other indications which suggest the bilateral involvement; therefore, occurrences supported by literature do not exclude the use of surgery to avoid the risk of omitted or delayed diagnosis. The data on possible recovery of these testicles are not satisfactory, and treatment consists of an observational approach ("wait-and-see") or an interventional approach. The hypothesis of randomized clinical trials seems impracticable because of rarity of disease. The authors present a case of PTT, analyzing injuries due to clinical and surgical management of these patients, according to medicolegal profile. The delayed diagnosis and the choice of an incorrect therapeutic approach can compromise the position of healthcare professionals, defective in terms of skill, prudence and diligence. Endocrine insufficiency is an unfortunate event. The analysis of literature seems to support, because of high risk, a surgical approach aimed not only at resolution of unilateral pathology or prevention of a relapse, but also at prevention of contralateral testicular torsion.

  15. Doppler sonographic findings in testicular microlithiasis

    Directory of Open Access Journals (Sweden)

    Selim Serter

    2008-08-01

    Full Text Available OBJECTIVE: The aim of this prospective study was to compare the resistive index (RI values, which is a parameter of testicular parenchymal perfusion, in testicular microlithiasis (TM cases and normal cases. MATERIALS AND METHODS: 2179 volunteers, all healthy men (17-42 years of age from the Annual Army Reserve Officer Training Corps training camp were included in the study. A screening scrotal ultrasound was performed and all men diagnosed with TM underwent a scrotal Doppler ultrasonography scan (US. US examinations were performed for subjects with TM and without TM as a control group and RI was determined. RESULTS: 53 men with TM were identified in the 2179 US. Spectral Doppler examination was applied to 50 randomly selected cases (100 testicles without TM and 92 testicles with TM, 39 cases (78 testicles with bilateral and 14 cases with unilateral involvement. However, 48 normal testicles (17 bilateral and 14 unilateral and 47 testicles with TM (15 bilateral and 17 unilateral, 10 of which were cases with bilateral TM where flow from the centripetal artery could be obtained and analyzed were included in the statistical analysis for resistive indices. There was no significant difference regarding the RI and spectral examinations between subjects with and without TM. An interesting finding was the twinkling artifact observed in three cases. CONCLUSION: Microliths did not alter the RI values and thus had no influence on testicular perfusion on Doppler US examination.

  16. Testicular cancer trends as 'whistle blowers' of testicular developmental problems in populations

    DEFF Research Database (Denmark)

    Skakkebaek, N E; Rajpert-De Meyts, Ewa; Jørgensen, N

    2007-01-01

    Recently a worldwide rise in the incidence of testicular germ cell cancer (TGCC) has been repeatedly reported. The changing disease pattern may signal that other testicular problems may also be increasing. We have reviewed recent research progress, in particular evidence gathered in the Nordic...... in TGCC rates of a population may be 'whistle blowers' of other reproductive health problems. As cancer registries are often of excellent quality - in contrast to registries for congenital abnormalities - health authorities should consider an increase in TGCC as a warning that other reproductive health...... problems may also be rising....

  17. Potential Stemness of Frozen-Thawed Testicular Biopsies without Sperm in Infertile Men Included into the In Vitro Fertilization Programme

    Directory of Open Access Journals (Sweden)

    Martin Stimpfel

    2012-01-01

    Full Text Available We describe the potential stemness of a small amount of frozen-thawed testicular tissue without sperm obtained by biopsy from six patients undergoing assisted reproductive treatment. The patients were diagnosed with Sertoli Cell-Only Syndrome alone or combined with maturation arrest. Trying to provide the natural stem cell niche for cultured stem cells, all isolated cells from enzymatically degraded biopsies where cultured together in different culture media and the presence of putative mesenchymal and putative pluripotent ES-like stem cells was indicated using different methods. High throughput real-time quantitative PCR followed by multivariate analysis revealed the formation of distinct cell clusters reflecting high degree of similarity and some of these cell clusters expressed the genes characteristic for pluripotent stem cells. In the presence of the follicular fluid, prepared as serum, putative testicular stem cells showed a certain degree of plasticity, and spontaneously differentiated into adipose-like and neuronal-like cells. Additionally, using differentiation protocols putative testicular stem cells were differentiated into neuronal- and pancreatic-like cells. This study shows that in assisted reproduction programmes, testicular tissue with no sperm might be an important source of stem cells, although it is discarded in daily medical practice; this requires further research.

  18. A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.

    Science.gov (United States)

    Andonova, Silvia; Robeva, Ralitsa; Sirakov, Milko; Mainhard, Karela; Tomova, Analia; Ledig, Susanne; Kumanov, Philip; Savov, Alexey

    2015-01-01

    46,XY complete gonadal dysgenesis (CGD) is a disorder of sexual development that can result from different mutations in genes associated with sex determination. Patients are phenotypically females, and the disease is often diagnosed in late adolescence because of delayed puberty. Here, we present the clinical and molecular data of a 46,XY female CGD patient with gonadoblastoma with dysgerminoma and incidentally found inherited thrombophilia. The clinical significance of the described de novo SRY gene mutation c.325T>C (p.F109L) is discussed. This case report supports the critical role of the HGM domain in the SRY gene and the need of a multidisciplinary approach for CGD patients. © 2016 S. Karger AG, Basel.

  19. [Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of polyhydramnios].

    Science.gov (United States)

    Lamouroux, A; Mousty, E; Prodhomme, O; Bigi, N; Le Gac, M-P; Letouzey, V; De Tayrac, R; Mares, P

    2016-04-01

    In prenatal diagnosis of 22q11.2 microdeletion syndrome, without cardiac malformation or multiple associated congenital anomalies, we study the presence of polyhydramnios and its association with thymic dysgenesis. This was a multicenter retrospective observational study. It was performed in two multidisciplinary centers for prenatal diagnosis in the south of France between January 1, 2010 and June 30, 2013. Inclusion criteria were prenatal diagnosis of 22q11.2 deletion syndrome. We excluded from the study any fetus with cardiac malformation or multiple associated congenital anomalies. During the inclusion period, eleven antenatal diagnoses of 22q11.2 microdeletion syndrome have been made. Six cases were excluded: 5 fetuses with cardiac malformation and one with multiple associated congenital anomalies. Therefore, five cases of isolated polyhydramnios were included. All 5 fetuses had a thymic dysgenesis: 3 had a thymic agenesis and 1 thymic hypoplasia diagnosed by sonography and 1 had a thymic agenesis diagnosed by retrospective reading of fetal MRI. When faced with a polyhydramnios, the presence of a thymic dysgenesis should be search for by ultrasound screening and would alert to the possibility of a 22q11.2 microdeletion syndrome. The confirmation of this is diagnosis by amniocentesis would enable improved antenatal support for parents and would enable early implementation of the multidisciplinary neonatal care that is required to avoid serious complications of this syndrome. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  20. Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice

    Science.gov (United States)

    Mao, Mao; Smith, Richard S.; Alavi, Marcel V.; Marchant, Jeffrey K.; Cosma, Mihai; Libby, Richard T.; John, Simon W. M.; Gould, Douglas B.

    2015-01-01

    Purpose Mutations in the gene encoding collagen type IV alpha 1 (COL4A1) cause multisystem disorders including anterior segment dysgenesis (ASD) and optic nerve hypoplasia. The penetrance and severity of individual phenotypes depends on genetic context. Here, we tested the effects of a Col4a1 mutation in two different genetic backgrounds to compare how genetic context influences ocular dysgenesis, IOP, and progression to glaucoma. Methods Col4a1 mutant mice maintained on a C57BL/6J background were crossed to either 129S6/SvEvTac or CAST/EiJ and the F1 progeny were analyzed by slit-lamp biomicroscopy and optical coherence tomography. We also measured IOPs and compared tissue sections of eyes and optic nerves. Results. We found that the CAST/EiJ inbred strain has a relatively uniform and profound suppression on the effects of Col4a1 mutation and that mutant CASTB6F1 mice were generally only very mildly affected. In contrast, mutant 129B6F1 mice had more variable and severe ASD and IOP dysregulation that were associated with glaucomatous signs including lost or damaged retinal ganglion cell axons and excavation of the optic nerve head. Conclusions. Ocular defects in Col4a1 mutant mice model ASD and glaucoma that are observed in a subset of patients with COL4A1 mutations. We demonstrate that different inbred strains of mice give graded severities of ASD and we detected elevated IOP and glaucomatous damage in 129B6F1, but not CASTB6F1 mice that carried a Col4a1 mutation. These data demonstrate that genetic context differences are one factor that may contribute to the variable penetrance and severity of ASD and glaucoma in patients with COL4A1 mutations. PMID:26567795

  1. Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.

    Science.gov (United States)

    dos Santos, Ana Paula; Andrade, Juliana Gabriel Ribeiro; Piveta, Cristiane Santos Cruz; de Paulo, Juliana; Guerra, Gil; de Mello, Maricilda Palandi; Maciel-Guerra, Andréa Trevas

    2013-11-05

    Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages and/or structural abnormalities of the Y chromosome) is generally found in MGD. Such mosaics are also compatible with female phenotype and Turner syndrome, ovotesticular disorder of sex development, and infertility in men with normal external genitalia. During the last few years, evidences of a linkage between Y microdeletions and 45,X mosaicism have been reported. There are also indications that the instability caused by such deletions might be more significant in germ cells. The aim of this work was to investigate the presence of Y chromosome microdeletions in individuals with PGD and in those with 45,X/46,XY mosaicism or its variants and variable phenotypes. Our sample comprised 13 individuals with PGD and 15 with mosaicism, most of them with a MGD phenotype (n = 11). Thirty-six sequence tagged sites (STS) spanning the male specific region (MSY) on the Y chromosome (Yp, centromere and Yq) were analyzed by multiplex PCR and some individual reactions. All STS showed positive amplifications in the PGD group. Conversely, in the group with mosaicism, six individuals with MGD had been identified with Yq microdeletions, two of them without structural abnormalities of the Y chromosome by routine cytogenetic analysis. The deleted STSs were located within AZFb and AZFc (Azoospermia Factor) regions, which harbor several genes responsible for spermatogenesis. Absence of deletions in individuals with PGD does not confirm the hypothesis that instability of the Y chromosome in the gonads could be one of the causes of such condition. However, deletions identified in the second group indicate that mosaicism may be associated with Y chromosome abnormalities detectable only at the molecular level

  2. Morphological Pattern of Testicular Biopsies in Zaria, Nigeria ...

    African Journals Online (AJOL)

    Background: Infertility is an established social problem in Nigeria where women have always been blamed for by the society. This serious issue necessitated this review of morphologic patterns of testicular biopsies. Method: This study was a five-year retrospective histopathological analysis of testicular biopsies sent for ...

  3. Testicular tuberculosis in an HIV positive patient mimicking ...

    African Journals Online (AJOL)

    B.A. Ojo

    Abstract. With the upsurge of tuberculosis infection compounded by the pandemic Human Immune Deficiency Virus. (HIV), isolated testicular tuberculosis though a rarity, should be a differential diagnosis especially in the atypical age group of patients presenting with testicular swelling and in areas with high prevalence rate ...

  4. The practice of testicular self examination: a comparative study of ...

    African Journals Online (AJOL)

    Knowledge of testicular cancer and of self examination was found to be low in both groups. Both groups, though, showed high general health awareness and a perception that the benefits of self examination would be great. It is recommended that knowledge of testicular cancer and the value of self examination should ...

  5. Cytogenetics of testicular germ cell tumors of adults

    NARCIS (Netherlands)

    van Echten, J; de Jong, B

    1998-01-01

    In this article, not intended to be a review of the literature, we present our view about the oncogenesis, pathogenesis and tumor progression of testicular germ cell tumors of adults. This view is based on our cytogenetic analyses df primary testicular germ cell tumors (seminomas and non-seminomas),

  6. testicular artery arising from an aberrant right renal artery

    African Journals Online (AJOL)

    User

    2017-08-17

    Aug 17, 2017 ... Correspondence to Dr. Emmanuel Henry Suluba, Department of Anatomy, School of Medicine,. Muhimbili University of Health and ... vein, left colic artery and the descending colon. Both right and left testicular arteries as ... anatomy of the vessels such as testicular arteries, ovarian arteries, renal arteries and.

  7. Undetectable inhibin B serum levels in men after testicular irradiation

    DEFF Research Database (Denmark)

    Petersen, P M; Andersson, A M; Rørth, M

    1999-01-01

    A group of men treated with testicular irradiation for carcinoma in situ in the remaining testis after orchidectomy for unilateral testicular germ cell cancer was used as a model to study of the effect of selective eradication of germ cells on the levels of serum inhibin B in the human male. Thir...

  8. Transverse Testicular Ectopia with Bilateral Pyocoele: Case Report ...

    African Journals Online (AJOL)

    its embryology and management in brief, and review the previously reported cases. Key words: Crossed testicular ectopia, transverse testicular ectopia, tunica vaginalis sac. Department of General Surgery, Vardhman Mahavir Medical. College and Safdarjung Hospital, New Delhi, India with right inguinal hernia with clinical ...

  9. The effect of unilateral vasectomy on testosterone and testicular ...

    African Journals Online (AJOL)

    EB

    Discipline of Clinical Anatomy, Nelson R Mandela School of Medicine, University of KwaZulu-Natal,. Private Bag X54001, Durban, South Africa. ... on testicular histology, testosterone and seminal parameters in the AGR. Methods .... Flickinger et al.24 since there is an association between testicular changes and serum ...

  10. Testicular and related size evaluations in Nigerian Sahel goats with ...

    African Journals Online (AJOL)

    A stratified quota sample population of 125 male goats inclusive of all testicular sizes was taken at a slaughterhouse in Maiduguri, Nigeria. The bucks were aged 18-30 months and weighed 17.04 ± 2.99 (12-25) kg. Body, testicular and epididymal weights of each goat with other related size measurements were estimated.

  11. Testicular Biopsies of Azoospermic Men at The Lagos State ...

    African Journals Online (AJOL)

    ... histological findings from testicular biopsies in azoospermic men seen at the Lagos State University Teaching Hospital, Ikeja - Lagos, Nigeria. Patients and Methods: A retrospective study of testicular biopsies of azoospermic men who presented to our institution from 2005 to 2006 was performed. The patient's age, type of ...

  12. Effect of Pinealectomy and Blindness on Alcohol Induced Testicular ...

    African Journals Online (AJOL)

    Conclusion: Bilateral but not unilateral blindness reduces sperm count, sperm motility and testicular lipid peroxidation following ethanol exposure. Whereas pinealectomy increases testicular lipid peroxidation, and decreases sperm count and motility following ethanol exposure in rats. Keywords: Pineal gland, Pinealectomy, ...

  13. Relationship of testicular development with age, body weight ...

    African Journals Online (AJOL)

    The study was conducted to measure the development of several testicular characteristics and to investigate the relationship between testicular parameters with body growth, semen characteristics and serum testosterone levels in growing ram lambs. Seventeen single born Kivircik ram lambs from three to four year old ewes ...

  14. Reversal of experimental varicocele-induced testicular toxicity by L ...

    African Journals Online (AJOL)

    testicular volumes, caudal epididymal sperm characteristics, testicular histology and serum hormone levels were evaluated. Results showed that the testes of the rats that were given vitamin C post experimental varicocele had better physiological, biochemical and histological profiles than those of the untreated animals.

  15. Ghrelin modulates testicular damage in a cryptorchid mouse model

    Science.gov (United States)

    Boekelheide, Kim; Sigman, Mark; Hall, Susan J.; Hwang, Kathleen

    2017-01-01

    Cryptorchidism or undescended testis (UDT) is a common congenital abnormality associated with increased risk for developing male infertility and testicular cancer. This study elucidated the effects of endogenous ghrelin or growth hormone secretagogue receptor (GHSR) deletion on mouse reproductive performance and evaluated the ability of ghrelin to prevent testicular damage in a surgical cryptorchid mouse model. Reciprocal matings with heterozygous/homozygous ghrelin and GHSR knockout mice were performed. Litter size and germ cell apoptosis were recorded and testicular histological evaluations were performed. Wild type and GHSR knockout adult mice were subjected to creation of unilateral surgical cryptorchidism that is a model of heat-induced germ cell death. All mice were randomly separated into two groups: treatment with ghrelin or with saline. To assess testicular damage, the following endpoints were evaluated: testis weight, seminiferous tubule diameter, percentage of seminiferous tubules with spermatids and with multinucleated giant cells. Our findings indicated that endogenous ghrelin deletion altered male fertility. Moreover, ghrelin treatment ameliorated the testicular weight changes caused by surgically induced cryptorchidism. Testicular histopathology revealed a significant preservation of spermatogenesis and seminiferous tubule diameter in the ghrelin-treated cryptorchid testes of GHSR KO mice, suggesting that this protective effect of ghrelin was mediated by an unknown mechanism. In conclusion, ghrelin therapy could be useful to suppress testicular damage induced by hyperthermia, and future investigations will focus on the underlying mechanisms by which ghrelin mitigates testicular damage. PMID:28542403

  16. Dismal salvage of testicular torsion: A call to action! | Maranya ...

    African Journals Online (AJOL)

    Background: Testicular ischaemia and infarction in cases of torsion depend on the duration and degree of twisting. Early evaluation and treatment are associated with high salvage reports. Objective: To determine the salvage rates of testicular torsion in selected hospitals at the Coast Province of Kenya Design: A ...

  17. Testicular torsion: case report | Kuremu | East African Medical Journal

    African Journals Online (AJOL)

    This is a report of bilateral testicular torsion. The objective of the report is to highlight the serious implications of misdiagnosis of testicular torsion. Other than loss of the testis due to necrosis in unilateral torsion, immunological damage of the opposite testis occurs. Early, accurate diagnosis, and institution of the appropriate ...

  18. Intermittent Testicular Torsion | Obi | Nigerian Journal of Clinical ...

    African Journals Online (AJOL)

    Objective: The aim of this study is to highlight the clinical characteristics of patients with intermittent testicular torsion and draw attention to this underreported condition. Methods: Clinical and demographic data of all patients treated for intermittent testicular torsion from January 2007 to June 2015 were prospectively collected ...

  19. Manual Detorsion of Testicular Torsion - A Primary Care Intervention ...

    African Journals Online (AJOL)

    Testicular torsion is one of the known acute urological emergencies that require prompt intervention. Salvage of the testis is only possible if derotation is performed within 6 hours of onset of symptoms. The objective of this paper is to report successful manual detorsion of the testes of patients with testicular torsion.

  20. An isolated tuberculousorchitis mimicking testicular tumour as a ...

    African Journals Online (AJOL)

    Case Report: A 32-year old man presented with a three-months history of left sided painless progressive testicular swelling. Further clinico-radiological findings revealed traits of a left testicular tumour. He was found to be HIV positive only at the index presentation whilst the histopathology of the left sided orchidectomy ...

  1. Feasibility of sentinel node lymphoscintigraphy in stage I testicular cancer

    NARCIS (Netherlands)

    Tanis, Pieter J.; Horenblas, Simon; Valdés Olmos, Renato A.; Hoefnagel, Cornelis A.; Nieweg, Omgo E.

    2002-01-01

    The aim of this study was to investigate the feasibility of lymphoscintigraphy for sentinel node identification in testicular cancer. Five patients with clinical stage I testicular cancer were prospectively included. A single dose of technetium-99m nanocolloid (mean dose 99 MBq, volume 0.2 ml) was

  2. How to Perform a Testicular Self-Examination

    Science.gov (United States)

    ... autoexploración testicular? (Presentación de diapositivas) Testicular self-exams (TSE) can help you check for things like cancer. ... 35. It's important to try to do a TSE every month so you can become familiar with ...

  3. Testicular descent: INSL3, testosterone, genes and the intrauterine milieu

    DEFF Research Database (Denmark)

    Bay, Katrine; Main, Katharina M; Toppari, Jorma

    2011-01-01

    Complete testicular descent is a sign of, and a prerequisite for, normal testicular function in adult life. The process of testis descent is dependent on gubernacular growth and reorganization, which is regulated by the Leydig cell hormones insulin-like peptide 3 (INSL3) and testosterone. Investi......Complete testicular descent is a sign of, and a prerequisite for, normal testicular function in adult life. The process of testis descent is dependent on gubernacular growth and reorganization, which is regulated by the Leydig cell hormones insulin-like peptide 3 (INSL3) and testosterone....... Investigation of the role of INSL3 and its receptor, relaxin-family peptide receptor 2 (RXFP2), has contributed substantially to our understanding of the hormonal control of testicular descent. Cryptorchidism is a common congenital malformation, which is seen in 2-9% of newborn boys, and confers an increased...

  4. Primary testicular mucinous cystadenoma: Case report and literature review.

    Science.gov (United States)

    de Lima, Mário Maciel; de Lima, Mário Maciel; Granja, Fabiana

    2015-01-01

    Testicular mucinous cystadenomas are rare in urological practice, and their histogenesis, course and management are debated. We report a primary testicular mucinous cystadenoma in a 54-year old male who presented with left testicular swelling and pain. He denied having a history of cryptorchidism, testicular trauma, infections, urinary complaints, or febrile illnesses. He did not have diabetes, but was on treatment for hypertension. The patient underwent a left inguinal radical orchiectomy, and histological examination of the resected tumour confirmed a primary testicular mucinous cystadenoma. The patient had an uneventful recovery, and is being followed up. Conclusively, urologists need to maintain a high index of suspicion of these tumours and their differentiation from metastatic tumours to ensure optimal therapeutic outcomes.

  5. Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome.

    Science.gov (United States)

    Hori, A; Peiffer, J; Pfeiffer, R A; Iizuka, R

    1980-01-01

    Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within the cerebellar white matter. The coexistence of overdeveloped and remaining fetal structures is emphasized. Several hypotheses regarding cerebellar dysgenesis are discussed.

  6. Barriers Identified by Swedish School Nurses in Giving Information about Testicular Cancer and Testicular Self-Examination to Adolescent Males

    Science.gov (United States)

    Rudberg, Lennart; Nilsson, Sten; Wikblad, Karin; Carlsson, Marianne

    2005-01-01

    The purpose of this study was to investigate to what extent school nurses in Sweden inform adolescent men about testicular cancer (TC) and testicular self-examination (TSE). A questionnaire was completed by 129 school nurses from 29 randomly selected municipalities. All respondents were women, with a mean age of 42 years. The results showed that…

  7. Evaluation of the Effectiveness of Testicular Cancer and Testicular Self-Examination Training for Patient Care Personnel: Intervention Study

    Science.gov (United States)

    Akar, Serife Zehra; Bebis, Hatice

    2014-01-01

    Testicular cancer (TC) is the most common malignancy among men aged 15-35 years. Testicular self-examination (TSE) is an important tool for preventing late-stage TC diagnoses. This study aimed to assess health beliefs and knowledge related to TC and TSE and the effectiveness of TC and TSE training for patient care staff in a hospital. This was a…

  8. Radiotherapy Treatment Planning for Testicular Seminoma

    Energy Technology Data Exchange (ETDEWEB)

    Wilder, Richard B., E-mail: richardbwilder@yahoo.com [Department of Radiation Oncology, Moffitt Cancer Center, Tampa, FL (United States); Buyyounouski, Mark K. [Department of Radiation Oncology, Fox Chase Cancer Center, Philadelphia, PA (United States); Efstathiou, Jason A. [Department of Radiation Oncology, Massachusetts General Hospital, Boston, MA (United States); Beard, Clair J. [Department of Radiation Oncology, Dana-Farber/Brigham and Women' s Cancer Center, Boston, MA (United States)

    2012-07-15

    Virtually all patients with Stage I testicular seminoma are cured regardless of postorchiectomy management. For patients treated with adjuvant radiotherapy, late toxicity is a major concern. However, toxicity may be limited by radiotherapy techniques that minimize radiation exposure of healthy normal tissues. This article is an evidence-based review that provides radiotherapy treatment planning recommendations for testicular seminoma. The minority of Stage I patients who choose adjuvant treatment over surveillance may be considered for (1) para-aortic irradiation to 20 Gy in 10 fractions, or (2) carboplatin chemotherapy consisting of area under the curve, AUC = 7 Multiplication-Sign 1-2 cycles. Two-dimensional radiotherapy based on bony anatomy is a simple and effective treatment for Stage IIA or IIB testicular seminoma. Centers with expertise in vascular and nodal anatomy may consider use of anteroposterior-posteroanterior fields based on three-dimensional conformal radiotherapy instead. For modified dog-leg fields delivering 20 Gy in 10 fractions, clinical studies support placement of the inferior border at the top of the acetabulum. Clinical and nodal mapping studies support placement of the superior border of all radiotherapy fields at the top of the T12 vertebral body. For Stage IIA and IIB patients, an anteroposterior-posteroanterior boost is then delivered to the adenopathy with a 2-cm margin to the block edge. The boost dose consists of 10 Gy in 5 fractions for Stage IIA and 16 Gy in 8 fractions for Stage IIB. Alternatively, bleomycin, etoposide, and cisplatin chemotherapy for 3 cycles or etoposide and cisplatin chemotherapy for 4 cycles may be delivered to Stage IIA or IIB patients (e.g., if they have a horseshoe kidney, inflammatory bowel disease, or a history of radiotherapy).

  9. Ultrasonographic Findings of Prepubertal Testicular Teratoma

    Energy Technology Data Exchange (ETDEWEB)

    Won, Jang Han; Cho, Jae Ho [Yeungnam University College of Medicine, Daegu (Korea, Republic of)

    2005-06-15

    To evaluate the ultrasonographic findings of testicular teratoma arising in pre-pubertal children. We studied 6 cases in 5 patients with pathologically proven testicular teratoma. Ultrasonography was performed in all cases and MRI in 5 cases. The location, size, shape, margin and internal echo pattern of the lesion were evaluated on ultrasonography and the shape, signal intensity and presence or absence of contrast enhancement were evaluated on MRI. The shape of all cases was round or oval and the lesion size ranged from 0.5 to 3.5 cm (average, 1.7 cm). Four of 6 cases were seen as cystic lesions, Three of which were multilocular and one was unilocular. The cystic lesions were filled with echo-free fluid without any solid component. The inner wall and septa were minutely granulated. One of 6 cases was seen as a predominantly cystic lesion containing heterogeneous, high echoic portions. One case was seen as a heterogeneous mixed echoic lesion with dirty posterior sonic shadowing. Three of the 4 cases seen as a cyst on ultrasonography were also seen as a cyst on MRI. In one case seen as a predominantly cystic lesion on ultrasonography, the periphery of the lesion was hypointense and the center was hyperintense on T2-weighted image. The remaining case seen as a heterogeneous mixed echoic mass was markedly heterogeneous in signal intensity both on T2- and T1-weighted images and hyperintense fat components were noted. Contrast enhancement was not seen in any of the 4 cases. On ultrasonography, pre-pubertal testicular teratoma is commonly seen as a multilocular or unilocular cyst and a minutely granulated appearance is noted in the inner wall or septa of the cystic lesion

  10. Effectiveness of lycopene on experimental testicular torsion.

    Science.gov (United States)

    Güzel, Mahmut; Sönmez, Mehmet Fatih; Baştuğ, Osman; Aras, Necip Fazıl; Öztürk, Ayşe Betül; Küçükaydın, Mustafa; Turan, Cüneyt

    2016-07-01

    We aimed to demonstrate the long term effectiveness of lycopene, a precursor of vitamin A, on the testes for ischemia-reperfusion injury. Seventy male Wistar albino rats were used for this experiment. The rats were divided into seven groups. Group 1 served as the control group; group 2 was sham-operated; group 3 received 20mg/kg/day lycopene (intraperitoneally); in group 4, the right testes of rats were kept torted for 2hours and then were detorted and the animals lived for three days; in group 5, the right testes of rats were kept torted for 2hours and then were detorted and the animals lived for ten days; in group 6, the right testes of the rats were kept torted for 2hours and then detorted and the animals received 20mg/kg/day lycopene (intraperitoneally) for three days; in group 7, the right testes of the rats were kept torted for 2hours and then were detorted and the animals received 20mg/kg/day lycopene (intraperitoneally) for ten days. Lycopene was used intraperitoneally. Some of the testes tissues were used for biochemical analyses and the other tissues were used for histological procedures. The Johnsen's score was used for seminiferous tubule deterioration. The TUNEL method was utilized to show apoptosis of testicular tissue. Testosterone levels were measured from blood samples and SOD, MDA, TNF-α, IL-1β and IL-6 measurements were recorded from tissue samples. The results were analyzed statistically. In groups 1, 2 and 3 there was normal testicular structure. Rats in groups 4 and 5 had damaged testicular tissues. In groups 6 and 7, in which we used lycopene, the testes were not better than those in groups 4 and 5. The MSTD and JTBS values were better in group 6, but not in group 7 among the torsion groups. As a result, MDA, SOD, TNF-α and IL-1β were increased and serum testosterone and IL-6 levels were decreased in groups 4 and 5 compared to group 1. There was no improvement in the groups treated with lycopene for therapeutic purposes. It was shown that

  11. Testicular Cancer: Epidemiology, Diagnosis, and Management.

    Science.gov (United States)

    Smith, Zachary L; Werntz, Ryan P; Eggener, Scott E

    2018-03-01

    There were an estimated 8720 new cases of testicular cancer (TC) in the United States in 2016. The cause of the disease is complex, with several environmental and genetic risk factors. Although rare, the incidence has been steadily increasing. Fortunately, substantial advances in treatment have occurred over the last few decades, making TC one of the most curable malignancies. However, because TC typically occurs in younger men, considerations of the treatment impact on fertility, quality of life, and long-term toxicity are paramount; an individualized approach must be taken with patients based on their clinical and pathologic findings. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Is Sedentary Lifestyle Associated With Testicular Function?

    DEFF Research Database (Denmark)

    Priskorn, Lærke; Jensen, Tina Kold; Bang, Anne Kirstine

    2016-01-01

    , when they attended a compulsory medical examination to determine their fitness for military service. Information on sedentary behavior (television watching and computer time) and physical activity was obtained by questionnaire. The men had a physical examination, delivered a semen sample, and had......Based on cross-sectional data on 1,210 healthy young Danish men, we investigated whether sedentary lifestyle was associated with testicular function (semen quality and reproductive hormones) independent of physical activity. The men were invited to participate in the study between 2008 and 2012...

  13. A meta-analysis of the risk of boys with isolated cryptorchidism developing testicular cancer in later life.

    Science.gov (United States)

    Lip, Stefanie Zhao Lin; Murchison, Louise Elizabeth Denheen; Cullis, Paul Stephen; Govan, Lindsay; Carachi, Robert

    2013-01-01

    Significant variability exists for the relative risk (RR) of testicular malignancy in isolated cryptorchidism. To perform a meta-analysis to clarify the true magnitude of this risk, allowing clinicians to better counsel patients and their families. Secondary research conducted by undergraduate researchers, clinical academics and a clinical statistician. DESIGN, DATA SOURCES, AND METHODS: A search of the English literature was performed for studies relating to testicular cancer and cryptorchidism, published between 1 January 1980 and 31 December 2010, using Embase and Medline databases. 735 papers were identified and analysed by four authors independently in accordance with our inclusion and exclusion criteria. Studies reporting an association between cryptorchidism and subsequent development of testicular malignancy were included. Genetic syndromes or other conditions which predisposed to the development of cryptorchidism were excluded. Pooled estimates and 95% CIs for the RRs were calculated. Nine case-control studies and three cohort studies were selected. The case-control studies included 2281 cases and 4811 controls. Cohort studies included 2 177 941 boys, with a total of 345 boys developing testicular cancer (total length of follow-up was 58 270 679 person-years). The pooled RR was 2.90 (95% CI 2.21 to 3.82) with significant heterogeneity (p<0.00001; I(2)=89%). Boys with isolated cryptorchidism are three times more likely to develop testicular cancer. The limitations of this study must be acknowledged, in particular, possible publication bias and the lack of high-quality evidence focusing on the risk of malignancy in boys with isolated cryptorchidism.

  14. Programmation néonatale de l’infertilité mâle : rôle de la dérégulation de l’expression des microARNs dans l’apoptose des cellules germinales

    OpenAIRE

    Lakhdari, Nadjem

    2013-01-01

    Epidemiological studies have reported an increase in male infertility over the past fifty years, especially in industrialized countries, but also an increase in malformations of the male reproductive tract such as cryptorchidism (no migration of the testes into the scrotum) and hypospadias (malformation of the penis), and testicular cancers. Experimental data suggest that these abnormalities of the male genital tract are related. These symptoms form the testicular dysgenesis syndrome. The cau...

  15. Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Dincsoy, M.Y.; Salih, M.A.M.; Al-Jurayyan, N. [King Saud Univ, Riyadh (Saudi Arabia)] [and others

    1995-04-10

    We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome. 20 refs., 4 figs., 1 tab.

  16. Baldness, acne and testicular germ cell tumors

    Science.gov (United States)

    Trabert, Britton; Sigurdson, Alice J.; Sweeney, Anne M.; Amato, Robert J.; Strom, Sara S.; McGlynn, Katherine A.

    2013-01-01

    Androgen levels during critical periods of testicular development may be involved in the etiology of testicular germ cell tumors (TGCT). We evaluated the roles of adolescent and early adult life correlates of androgen exposure and TGCT in a hospital-based case control study. TGCT cases (n=187) and controls (n=148), matched on age, race and state of residence, participated in the study. Unconditional logistic regression was used to estimate associations between TGCT and male pattern baldness, severe acne, markers of puberty onset and body size. Cases were significantly less likely to report hair loss than controls (OR, 0.6; 95% CI, 0.4, 1.0). Amount of hair loss, increasing age at onset and increasing rate of loss were all inversely associated with TGCT (rate of hair loss: p-trend=0.03; age at onset: p-trend=0.03; amount of hair loss: p-trend=0.01). History of severe acne was inversely associated with TGCT (OR, 0.5; 95% CI, 0.3, 0.9) and height was positively associated with TGCT (p-trend=0.02). Increased endogenous androgen levels during puberty and early adulthood may be associated with decreased risk of TGCT. Additional studies of endogenous hormone levels during puberty and early adult life are warranted, especially studies evaluating the role of androgen synthesis, metabolism and uptake. PMID:21128977

  17. Hypothyroidism-associated testicular enlargement: is it a form of precocious puberty or not? A case report.

    Science.gov (United States)

    Esen, Ihsan; Demirel, Fatma

    2011-01-01

    In children with untreated hypothyroidism, the onset of puberty is usually delayed, but gonadotropin-independent precocious puberty may occur in children with severe hypothyroidism of long duration. The association of hypothyroidism, delayed bone age and gonadotropin-independent precocious puberty is defined as Van Wyk Grumbach syndrome (VWGS). VWGS has been described mostly in girls, and only seldom in boys. The manifestation of VWGS in boys is only testicular enlargement without substantial Leydig cell stimulation or testosterone secretion. We report a case of testicular enlargement due to obvious hypothyroidism secondary to autoimmune thyroiditis in a boy who presented with obesity. With this case report, we would like to emphasize that VWGS is not a real gonadotropin- independent precocious puberty in boys as it is in girls. Additionally, we would like to emphasize that delayed bone age is a special discriminating feature for differentiation of VWGS from the other causes of precocious puberty.

  18. Turner syndrome and anesthesia.

    Science.gov (United States)

    Maranhão, Marcius Vinícius M

    2008-01-01

    Turner syndrome is a frequent and complex genetic abnormality affecting women, being associated with a wide variety of anatomical and physiological changes, especially related with the airways and cardiovascular system. The objective of this report was to review the anatomopathologic changes of this syndrome that concern the anesthesiologist the most, discuss the perioperative management and review the literature regarding the anesthetic conduct in those patients. Turner syndrome is a genetic disorder characterized by an abnormality in the number or morphology of the sex chromosome. The most frequent abnormality is the absence of a sex chromosome, resulting in the 45X karyotype and a phenotype composed of gonadal dysgenesis. The main anatomo-physiological changes pertaining the anesthesiologist include a short neck, and maxillary and mandibular hipoplasia, which might be responsible for difficult airways. The shorter length of the trachea, as well as the higher location of its bifurcation, can predispose to bronchial intubation and accidental endotracheal extubation when the tracheal cannula is under traction. The presence of cardiopathies, endocrine and gastrointestinal disorders, liver and kidney changes, as well as osteoarticular involvement, besides ophthalmologic and hearing impairments, are very frequent, and should be detected during the pre-anesthetic evaluation. General or regional anesthesia seems to be safe for those patients. Turner syndrome is a genetic abnormality with important anatomo-physiological abnormalities important to the anesthesiologist. The knowledge of this disorder allows for a safer anesthetic management with low perioperative morbimortality.

  19. Baldness and testicular cancer: the EPSAM case-control study.

    Science.gov (United States)

    Moirano, G; Zugna, D; Grasso, C; Lista, P; Ciuffreda, L; Segnan, N; Merletti, F; Richiardi, L

    2016-03-01

    The etiology of testicular cancer is largely unexplained. Research has mainly focused on prenatal exposures, especially to sex hormones, while less attention has been paid to exposures that may act also postnatally. As baldness has been previously associated with testicular cancer risk we focused on baldness and body hairiness, which are both associated with androgen activity. We used data of the Postnatal Exposures and Male Health (EPSAM) study, a case-control study on testicular cancer conducted in the Province of Turin, Italy, involving cases diagnosed between 1997 and 2008. Information was collected using mailed questionnaires. Analyses included 255 cases and 459 controls. We calculated ORs and 95% CIs to estimate testicular cancer risk among those who developed baldness and among those with body hairiness. We found an inverse association between testicular cancer and baldness (OR: 0.67, 95% CI: 0.46-0.98) and body hairiness (OR: 0.78, 95% CI: 0.53-1.16), although the latter had wider CIs. The inverse association between baldness and testicular cancer is consistent with the results from previous studies. These results suggest that androgens activity may influence testicular cancer risk. © 2016 American Society of Andrology and European Academy of Andrology.

  20. The testis: structure, function and most frequent testicular pathology

    OpenAIRE

    Pardo Gambarte, Laura

    2017-01-01

    El trabajo consta de dos partes claramente diferenciadas. En una primera parte, se ha realizado una revisión bibliográfica de los hallazgos anatómicos testiculares más importantes. Han sido descritas también la histofisiología testicular y la regulación hormonal del aparato reproductor masculino así como las principales funciones testiculares, no solo en el aparato reproductor masculino sino también en el sistema endocrino. En una segunda parte y de una manera más ampliada, se han revisado la...

  1. Burned-Out Testicular Tumor: A Case Report

    Directory of Open Access Journals (Sweden)

    N. Balalaa

    2011-01-01

    Full Text Available Germ cell tumors constitute the majority of all testicular tumors, which are relatively rare overall and are mainly encountered in young adults and teenagers. The term ‘burned-out’ germ cell tumor refers to the presence of a metastatic germ cell tumor with histological regression of the primary testicular lesion. Clinical examination of the testes and scrotal sonography is pivotal in the initial diagnosis of such neoplasms. We present a case of a 31-year-old male with a retroperitoneal mass and no palpable lesion on testicular examination.

  2. Disease: H00799 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00799 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma sy...ndrome; CEDNIK syndrome CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a r

  3. Testicular “Hyperstimulation” Syndrome: A Case of Functional Gonadotropinoma

    Directory of Open Access Journals (Sweden)

    Astha Thakkar

    2014-01-01

    Full Text Available Gonadotropins secreting pituitary tumors tend to present as sellar mass with hypogonadism. Biologically active LH secretion by these tumors resulting in elevated testosterone is extremely rare. We report a case of a 48-year-old male patient who presented with giant pituitary tumor, elevated testosterone, and elevated levels of gonadotropins. Surgical resection of the tumor resulted in normalization of gonadotropins and fall in serum testosterone to subnormal levels in the postoperative period confirming that the tumor was secreting bioactive luteinizing hormone (LH.

  4. Testicular tumors: correlation between radiological findings and pathology results; Neoplasias testiculares: aspectos ultra-sonograficos com correlacao anatomopatologica

    Energy Technology Data Exchange (ETDEWEB)

    Souza, Luis Ronan Marques Ferreira de; Szejnfeld, Denis; Abud, Thiago G.; Szejnfeld, Jacob [Universidade Federal de Sao Paulo (UNIFESP/EPM), SP (Brazil). Dept. de Diagnostico por Imagem]. E-mail: luisronan@gmail.com; Takano, Daniela Mayumi [Universidade Federal de Sao Paulo (UNIFESP/EPM), SP (Brazil). Dept. de Anatomia Patologica; Goldman, Suzan Menasce [Universidade Federal de Sao Paulo (UNIFESP/EPM), SP (Brazil). Setor de Geniturinario

    2005-10-15

    The aim of this study is to review the main imaging findings and the pathological and clinical features seen on patients with testicular tumors in order to define characteristics that may help in the differential diagnosis of the most frequent lesions. We performed a retrospective study of 51 patients with diagnosis of testicular tumors submitted to ultrasound and computed tomography between July 2003 to March 2004 that were referred to the Diagnostic Department of Sao Paulo University, Sao Paulo Hospital, Brazil. We concluded that a basic knowledge of the key imaging findings and pathological and clinical features of testicular tumor sis very helpful for an accurate diagnosis of this condition.(author)

  5. Testis sparing surgery for sequential bilateral testicular tumors.

    Science.gov (United States)

    Canda, Abdullah Erdem; Atmaca, Ali Fuat; Ozdemir, Ahmet Tunc; Akbulut, Ziya; Balbay, M Derya

    2009-06-01

    We present our experience in performing testis sparing surgery (TSS) to treat sequential bilateral testicular tumors. We performed TSS on two patients with bilateral sequential testicular tumors. A 43-year-old patient (Case 1) and a 33-year-old patient (Case 2) had previous inguinal orchiectomy for seminoma. The patients were diagnosed with secondary testicular tumors in the contralateral testes on follow up. They were treated with TSS after frozen section analysis of the peritumoral testicular tissue. Pathologic evaluation of the removed tumors revealed immature teratoma and Leydig cell tumor. Both patients are disease free without local recurrence and do not have erectile dysfunction, and thus do not need androgen replacement therapy after a follow up of 6 months and 44 months, respectively. TSS after frozen section analysis appears to be a safe and feasible procedure that, in carefully selected cases, offers adequate cancer control, preserves sexual function, and provides psychological benefits.

  6. Testicular development in Dorper, DOhne Merino and crossbred rams

    African Journals Online (AJOL)

    , Dohne Merino (DM) and crossbred (Meatmaster; MM) rams. Testicular measurements included testis volume (TV), diameter (TD), length (TL) and scrotal circumference (SC). Soth TD and SC were highly repeatable and positively correlated ...

  7. Effects of sublethal doses of chlorfluazuron on the testicular ...

    African Journals Online (AJOL)

    Jane

    2011-08-15

    mg at the ... reduced the amounts of testicular, seminal vesicular and aedeagular DNA compared with the controls. Similar reduction was ..... a) and Coopex, against grasshoppers in the field and laboratory. Proc. 12th Cong.

  8. Molecular biology of testicular germ cell tumors.

    Science.gov (United States)

    Gonzalez-Exposito, R; Merino, M; Aguayo, C

    2016-06-01

    Testicular germ cell tumors (TGCTs) are the most common solid tumors in young adult men. They constitute a unique pathology because of their embryonic and germ origin and their special behavior. Genetic predisposition, environmental factors involved in their development and genetic aberrations have been under study in many works throughout the last years trying to explain the susceptibility and the transformation mechanism of TGCTs. Despite the high rate of cure in this type of tumors because its particular sensitivity to cisplatin, there are tumors resistant to chemotherapy for which it is needed to find new therapies. In the present work, it has been carried out a literature review on the most important molecular aspects involved in the onset and development of such tumors, as well as a review of the major developments regarding prognostic factors, new prognostic biomarkers and the possibility of new targeted therapies.

  9. Ontogenesis of testicular function in humans.

    Directory of Open Access Journals (Sweden)

    GaĂŤlle Angenard

    2010-01-01

    Full Text Available The two major functions of the testis, steroidogenesis and gametogenesis, take place during fetal life. These two functions have been extensively studied in rodents and adult humans. However, their onset during fetal life is poorly documented in humans. In the first part of this work we presented both our experimental data and some data of literature concerning the development of the human fetal testis. In the second part of this article, using the organ culture system we previously developed, we have investigated the regulations or perturbations of fetal testis development both in rodent and human models. Our findings provide important insight into the potential role of exposure to environmental pollutants (physical factors, in particular ionizing radiation, cadmium and endocrine disruptors such as phthalates during fetal testicular development and their potential deleterious effects on male fertility in adulthood. Our results highlight the specificity of the human model compared with rodent models.

  10. Adverse testicular effects of Botox® in mature rats

    Energy Technology Data Exchange (ETDEWEB)

    Breikaa, Randa M. [Department of Pharmacology and Toxicology, Faculty of Pharmacy, Ain Shams University, Cairo (Egypt); Mosli, Hisham A. [Department of Urology, Faculty of Medicine, King Abdulaziz University, Jeddah (Saudi Arabia); Nagy, Ayman A. [Department of Pathology, Faculty of Medicine, King Abdulaziz University, Jeddah (Saudi Arabia); Department of Forensic Medicine and Toxicology, Faculty of Medicine, Tanta University, Tanta (Egypt); Abdel-Naim, Ashraf B., E-mail: abnaim.pharma@gmail.com [Department of Pharmacology and Toxicology, Faculty of Pharmacy, Ain Shams University, Cairo (Egypt); Department of Pharmacology and Toxicology, Faculty of Pharmacy, King Abdulaziz University, Jeddah (Saudi Arabia)

    2014-03-01

    Botox® injections are taking a consistently increasing place in urology. Intracremasteric injections, particularly, have been applied for cryptorchidism and painful testicular spasms. Studies outlining their safety for this use are, however, scanty. Thus, the present study aimed at evaluating possible testicular toxicity of Botox® injections and their effect on male fertility. Mature rats were given intracremasteric Botox® injections (10, 20 and 40 U/kg) three times in a two-week interval. Changes in body and testes weights were examined and gonadosomatic index compared to control group. Semen quality, sperm parameters, fructose, protein, cholesterol and triglycerides contents were assessed. Effects on normal testicular function were investigated by measuring testosterone levels and changes in enzyme activities (lactate dehydrogenase-X and acid phosphatase). To draw a complete picture, changes in oxidative and inflammatory states were examined, in addition to the extent of connective tissue deposition between seminiferous tubules. In an attempt to have more accurate information about possible spermatotoxic effects of Botox®, flowcytometric analysis and histopathological examination were carried out. Botox®-injected rats showed altered testicular physiology and function. Seminiferous tubules were separated by dense fibers, especially with the highest dose. Flowcytometric analysis showed a decrease in mature sperms and histopathology confirmed the findings. The oxidative state was, however, comparable to control group. This study is the first to show that intracremasteric injections of Botox® induce adverse testicular effects evidenced by inhibited spermatogenesis and initiation of histopathological changes. In conclusion, decreased fertility may be a serious problem Botox® injections could cause. - Highlights: • Botox® injections are the trend nowadays, for both medical and non-medical uses. • They were recently suggested for cryptorchidism and

  11. Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis

    Energy Technology Data Exchange (ETDEWEB)

    Kueker, W.; Mader, I.; Naegele, T. [Department of Neuroradiology, Medical School, University of Tuebingen, Hoppe-Seyler Strasse 3, 72076 Tuebingen (Germany); Mayrhofer, H.; Kraegeloh-Mann, I. [Department Neuropaediatrics, Medical School, University of Tuebingen, Hoppe-Seyler Strasse 3, 72076 Tuebingen (Germany)

    2003-03-01

    Malformations of the corpus callosum (CC) may occur in many different syndromes. Various forms have been observed. We report seven cases of malformation of the CC. Special attention is directed towards the development of the fornix and hippocampus as a hippocampal commissure is a prerequisite of normal hippocampal development. The clinical disability of the patients presented here differed significantly, which may in part be due to the different extent of this cerebral malformation. The relevance of the concomitant aplasia of the limbic system has not been addressed in detail previously in the literature. (orig.)

  12. Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.

    Science.gov (United States)

    Protas, Meredith E; Weh, Eric; Footz, Tim; Kasberger, Jay; Baraban, Scott C; Levin, Alex V; Katz, L Jay; Ritch, Robert; Walter, Michael A; Semina, Elena V; Gould, Douglas B

    2017-09-15

    Mutations in FOXC1 and PITX2 constitute the most common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary glaucoma. The genetic causes underlying ASD in approximately half of patients remain unknown, despite many of them being screened by whole exome sequencing. Here, we performed whole genome sequencing on DNA from two affected individuals from a family with dominantly inherited ASD and glaucoma to identify a 748-kb deletion in a gene desert that contains conserved putative PITX2 regulatory elements. We used CRISPR/Cas9 to delete the orthologous region in zebrafish in order to test the pathogenicity of this structural variant. Deletion in zebrafish reduced pitx2 expression during development and resulted in shallow anterior chambers. We screened additional patients for copy number variation of the putative regulatory elements and found an overlapping deletion in a second family and in a potentially-ancestrally-related index patient with ASD and glaucoma. These data suggest that mutations affecting conserved non-coding elements of PITX2 may constitute an important class of mutations in patients with ASD for whom the molecular cause of their disease have not yet been identified. Improved functional annotation of the human genome and transition to sequencing of patient genomes instead of exomes will be required before the magnitude of this class of mutations is fully understood. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.

    Science.gov (United States)

    Rocha, Vanessa Brito Campoy; Guerra-Júnior, Gil; Marques-de-Faria, Antonia Paula; de Mello, Maricilda Palandi; Maciel-Guerra, Andréa Trevas

    2011-12-01

    To determine the frequency of XY karyotypes among females with complete gonadal dysgenesis (CGD) and to investigate the frequency of both gonadal tumors and SRY mutations. Retrospective study based on data from all patients with CGD seen in our service from 1989 to 2010. Clinic for disorders of sex development, University Hospital, State University of Campinas. Thirty-two patients with hypergonadotropic hypogonadism, streak gonads, internal and external female genitalia, and normal karyotype (46,XX or 46,XY); 31 were index cases and 29 did not have a previously determined karyotype. None. None. The percentage of XY karyotypes among patients with CGD was 34.5% (10/29). Mean age at diagnosis among XY and XX patients was 17.4 years and 19.9 years, respectively. Gonadal tumors were found in 4 of 9 XY girls, and 7 of 10 had SRY gene mutations. The previously unreported finding of an elevated frequency of 46,XY karyotype among patients with CGD and the high risk of gonadal neoplasia in such cases indicate that this diagnosis must be kept in mind by clinicians and strengthen the importance of karyotype analysis in females with primary hypogonadism. In addition, the frequency of SRY mutations in XY CGD might be higher than previously considered. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  14. Activation of the MEK5/ERK5 cascade is responsible for biliary dysgenesis in a rat model of Caroli's disease.

    Science.gov (United States)

    Sato, Yasunori; Harada, Kenichi; Kizawa, Kazuo; Sanzen, Takahiro; Furubo, Shinichi; Yasoshima, Mitsue; Ozaki, Satoru; Ishibashi, Masahiko; Nakanuma, Yasuni

    2005-01-01

    Polycystic kidney (PCK) rats exhibit a multiorgan cyst pathology similar to human autosomal recessive polycystic kidney disease, and are proposed as an animal model of Caroli's disease with congenital hepatic fibrosis (CHF). This study investigated the expression and function of selected components of the mitogen activated protein kinase (MAPK) pathway in cultured intrahepatic biliary epithelial cells (BECs) of PCK rats. Compared to the proliferative activity of cultured BECs of control rats, those of the PCK rats were hyperresponsive to epidermal growth factor (EGF). The increase in BEC proliferation was accompanied by overexpression of MAPK/extracellular signal-regulated protein kinase (ERK) kinase 5 (MEK5), and subsequent phosphorylation of ERK5 in vitro. The increased proliferative activity was significantly inhibited by the transfection of short interfering RNA against MEK5 mRNA. An EGF receptor tyrosine kinase inhibitor, gefitinib ("Iressa", ZD1839), also significantly inhibited the abnormal growth of cultured BECs of PCK rats. By contrast, treatment with PD98059 and U0126, inhibitors for MEK1/2, was less effective. These results suggest that the activation of the MEK5-ERK5 cascade plays a pivotal role in the biliary dysgenesis of PCK rats, and also provide insights into the pathogenesis of Caroli's disease with CHF. As the MEK5-ERK5 interaction is highly specific, it may represent a potential target of therapy.

  15. Testicular Metastasis of Prostate Cancer: A Case Report

    Directory of Open Access Journals (Sweden)

    Ayumu Kusaka

    2014-09-01

    Full Text Available The incidence of secondary neoplasms of the testis during autopsies is approximately 2.5%. Although most secondary testicular metastases are due to prostate cancer, only a few patients with prostate cancer have clinically manifested testicular metastasis. We report the case of a prostate cancer patient with testicular metastasis who was diagnosed after the presence of a palpable mass in the right testis. A 56-year-old Japanese male presented to our hospital with an elevated serum prostate-specific antigen (PSA level of 137 ng/ml. He was diagnosed with stage IV (T3N1M1b prostate cancer and received androgen deprivation therapy, followed by various hormonal manipulations. His serum PSA level was undetectable for 1 year. No distant metastases were detected during imaging examinations. He received radiation therapy; however, his serum PSA level increased gradually. Four months later, he presented with right testicular swelling. Computed tomography revealed a heterogenous mass in the right testis and a right high inguinal orchiectomy was performed. Histopathological analysis showed that the right testis was infiltrated with metastatic adenocarcinoma with a Gleason score of 8. This is a rare case of right testicular metastasis in a patient with prostate cancer. Testicular metastasis of prostate cancer can be aggressive and metastasize.

  16. Reassembly of somatic cells and testicular organogenesis in vitro.

    Science.gov (United States)

    Reuter, Karin; Ehmcke, Jens; Stukenborg, Jan-Bernd; Simoni, Manuela; Damm, Oliver S; Redmann, Klaus; Schlatt, Stefan; Wistuba, Joachim

    2014-02-01

    Testicular organogenesis in vitro requires an environment allowing a reassembly of testicular cell types. Previous in vitro studies using male murine germ cells cultured in a defined three-dimensional environment demonstrated tubulogenesis and differentiation into spermatozoa. Combining scaffolds as artificial culture substrates with testicular cell culture, we analysed the colonization of collagen sponges by rat testicular cells focusing on cell survival and reassembly of tubule-like-structures in vitro. Isolated testicular cells obtained from juvenile Sprague Dawley and eGFP transgenic rats were cultured on collagen sponges (DMEM high glucose+Glutamax, 35°C, 5% CO2 with or without gonadotropins). Live cell imaging revealed the colonization of cells across the entire scaffold for up to 35 days. After two days, histology showed cell clusters attached to the collagen fibres and displaying signs of tubulogenesis. Clusters consisted mainly of Sertoli and peritubular cells which surrounded some undifferentiated spermatogonia. Flow cytometry confirmed lack of differentiation as no haploid cells were detected. Leydig cell activity was detected by a rise of testosterone after gonadotropin stimulation. Our approach provides a novel method which is in particular suitable to follow the somatic testicular cells in vitro an issue of growing importance for the analysis of germ line independent failure of spermatogenesis. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Ehlers danlos syndrome in two siblings

    Directory of Open Access Journals (Sweden)

    Das M

    2005-01-01

    Full Text Available Two cases of Ehlers-Danlos syndrome affecting two real brothers are being reported. Both of them presented with features of atrophy and hyperextensibility of skin, hypermobility of joints and scarring at the sites of trauma. The elder brother also had kyphoscoliosis and hypogonadism with testicular failure.

  18. Aetiology of testicular cancer: association with congenital abnormalities, age at puberty, infertility, and exercise. United Kingdom Testicular Cancer Study Group.

    OpenAIRE

    1994-01-01

    OBJECTIVE--To determine the risk of testicular cancer associated with undescended testis, inguinal hernia, age at puberty, marital status, infertility, vasectomy, and amount of exercise. DESIGN--A population based case-control study with a questionnaire administered by an interviewer and with relevant supplementary data extracted from general practitioners' notes. SETTING--Nine health regions within England and Wales. SUBJECTS--794 men, aged 15-49 years, with a testicular germ cell tumour dia...

  19. Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome

    Directory of Open Access Journals (Sweden)

    Bhavin M Shah

    2014-01-01

    Full Text Available Blepharophimosis ptosis epicanthus inversus syndrome (BPES is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX involved in a variety of developmental processes.

  20. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...

  1. [Psychosexual aspects of intersex syndromes].

    Science.gov (United States)

    Bosinski, H A G

    2006-08-01

    Disorders of somatosexual development that lead to ambiguous genitalia occur in one from 3,000-5,000 newborns. Parents and health care professionals are confronted with a number of crucial questions: to what sex should the child be assigned, what is the appropriate treatment in terms of hormonal and surgical interventions, when and how should these take place, and what impact do they have on the development of gender identity (GI), psychosexual well-being and fertility? This paper reviews the etiology, treatment and outcome in terms of GI and sexual health for the following syndromes: congenital adrenal hyperplasia (CAH), complete and partial androgen insensitivity (cAIS, pAIS), and pure and mixed gonadal dysgenesis (pGD, mGD). Emphasis is focussed on the current discussion involving the timing and extent of genital surgery. Finally, a procedure is introduced that covers the sexual-medical needs of patients, parents and health care professionals.

  2. Prospectively Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort.

    Science.gov (United States)

    Pathak, Anand; Adams, Charleen D; Loud, Jennifer T; Nichols, Kathryn; Stewart, Douglas R; Greene, Mark H

    2015-10-01

    Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR = 11.9; 95% CI, 5.1-23.4; excess absolute risk = 7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR = 13.4; 95% CI, 1.6-48.6). Our data are the first to indicate that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. ©2015 American Association for Cancer Research.

  3. Cryopreservation of testicular tissue or testicular cell suspensions: a pivotal step in fertility preservation.

    Science.gov (United States)

    Onofre, J; Baert, Y; Faes, K; Goossens, E

    2016-11-01

    Germ cell depletion caused by chemical or physical toxicity, disease or genetic predisposition can occur at any age. Although semen cryopreservation is the first reflex for preserving male fertility, this cannot help out prepubertal boys. Yet, these boys do have spermatogonial stem cells (SSCs) that able to produce sperm at the start of puberty, which allows them to safeguard their fertility through testicular tissue (TT) cryopreservation. SSC transplantation (SSCT), TT grafting and recent advances in in vitro spermatogenesis have opened new possibilities to restore fertility in humans. However, these techniques are still at a research stage and their efficiency depends on the amount of SSCs available for fertility restoration. Therefore, maintaining the number of SSCs is a critical step in human fertility preservation. Standardizing a successful cryopreservation method for TT and testicular cell suspensions (TCSs) is most important before any clinical application of fertility restoration could be successful. This review gives an overview of existing cryopreservation protocols used in different animal models and humans. Cell recovery, cell viability, tissue integrity and functional assays are taken into account. Additionally, biosafety and current perspectives in male fertility preservation are discussed. An extensive PubMED and MEDline database search was conducted. Relevant studies linked to the topic were identified by the search terms: cryopreservation, male fertility preservation, (immature)testicular tissue, testicular cell suspension, spermatogonial stem cell, gonadotoxicity, radiotherapy and chemotherapy. The feasibility of fertility restoration techniques using frozen-thawed TT and TCS has been proven in animal models. Efficient protocols for cryopreserving human TT exist and are currently applied in the clinic. For TCSs, the highest post-thaw viability reported after vitrification is 55.6 ± 23.8%. Yet, functional proof of fertility restoration in the

  4. Sperm retrieval rate and pregnancy rate in infertile couples undergoing in-vitro fertilisation and testicular sperm extraction for non-obstructive azoospermia in Hong Kong.

    Science.gov (United States)

    Ko, J Ky; Chai, J; Lee, V Cy; Li, R Hw; Lau, E; Ho, K L; Tam, P C; Yeung, W Sb; Ho, P C; Ng, E Hy

    2016-12-01

    There are currently no local data on the sperm retrieval and pregnancy rates in in-vitro fertilisation and testicular sperm extraction cycles, especially with regard to the presence of genetic abnormalities. This study aimed to determine the sperm retrieval and pregnancy rates in infertile couples who underwent in-vitro fertilisation and testicular sperm extraction for non-obstructive azoospermia. This retrospective case series was conducted at a tertiary assisted reproduction unit in Hong Kong. Men with non-obstructive azoospermia who underwent in-vitro fertilisation and testicular sperm extraction between January 2001 and December 2013 were included. The main outcome measures were sperm retrieval and pregnancy rates. During the study period, 89 men with non-obstructive azoospermia underwent in-vitro fertilisation and testicular sperm extraction. Sperm was successfully retrieved in 40 (44.9%) men. There was no statistically significant difference in the sperm retrieval rate of those with karyotypic abnormalities (2/5, 40.0% vs 28/61, 45.9%; P=1.000) and AZFc microdeletion (3/6, 50.0% vs 28/61, 45.9%; P=1.000) compared with those without. Sperms were successfully retrieved in patients who had mosaic Klinefelter syndrome (2/3, 66.7%) but not in the patient with non-mosaic Klinefelter syndrome. No sperms were found in men with AZFa or AZFb microdeletions. Pregnancy test was positive in 15 (16.9%) patients and the clinical pregnancy rate was 13.5% (12/89) per cycle. The clinical pregnancy rate per transfer was 34.3% (12/35). The sperm retrieval rate and clinical pregnancy rate per initiated cycle in men undergoing in-vitro fertilisation and testicular sperm extraction in our unit were 44.9% and 13.5%, respectively. No sperms could be retrieved in the presence of AZFa and AZFb microdeletions, but karyotype and AZFc microdeletion abnormalities otherwise did not predict the success of sperm retrieval in couples undergoing in-vitro fertilisation and testicular sperm

  5. Communication problems in Turner syndrome: a sample survey.

    Science.gov (United States)

    Van Borsel, J; Dhooge, I; Verhoye, K; Derde, K; Curfs, L

    1999-01-01

    Turner syndrome is a condition first recognized in 1938 with an incidence estimated at 1/2500 female births. It is known to result from a missing X chromosome and has as its main features a short stature, ovarian dysgenesis, neck webbing, congenital peripheral lymphedema, coarctation of the aorta, cubitus valgus, dysplastic nails, and pigmented nevi. In addition, psychosocial difficulties including communication disorders may occur. While the physical characteristics of Turner syndrome have been well documented, information on the communication problems in Turner syndrome is scarce. This study reports the results of a sample survey in 128 girls with Turner syndrome ranging in age from 2.4 to 58.8 years. Results are presented on the occurrence and nature of speech and language problems (voice disorders, articulation problems, stuttering, and delayed language development), on the presence of learning disabilities, and on educational history.

  6. Testicular microlithiasis in boys and young men with congenital or acquired undescended (ascending) testis

    NARCIS (Netherlands)

    Goede, J.; Hack, W.W.M.; Voort-Doedens, L.M. van der; Pierik, F.H.; Looijenga, L.H.J.; Sijstermans, K.

    2010-01-01

    Purpose: We assessed the prevalence of testicular microlithiasis by ultrasound in boys and young men with congenital or acquired undescended (ascending) testis. Materials and Methods: During followup for testicular growth patients with congenital or acquired undescended (ascending) testis were also

  7. Eliminating acute lymphoblastic leukemia cells from human testicular cell cultures: a pilot study

    NARCIS (Netherlands)

    Sadri-Ardekani, Hooman; Homburg, Christa H.; van Capel, Toni M. M.; van den Berg, Henk; van der Veen, Fulco; van der Schoot, C. Ellen; van Pelt, Ans M. M.; Repping, Sjoerd

    2014-01-01

    To study whether acute lymphoblastic leukemia (ALL) cells survive in a human testicular cell culture system. Experimental laboratory study. Reproductive biology laboratory, academic medical center. Acute lymphoblastic leukemia cells from three patients and testicular cells from three other patients.

  8. Discovery – Cisplatin and The Treatment of Testicular and Other Cancers

    Science.gov (United States)

    Prior to the discovery of cisplatin in 1965, men with testicular cancer had few medical options. Now, thanks to NCI research, cisplatin and similar chemotherapy drugs are known for curing testicular and other forms of cancer.

  9. Validity of predictions of residual retroperitoneal mass histology in nonseminomatous testicular cancer

    NARCIS (Netherlands)

    Steyerberg, EW; Gerl, A; Fossa, SD; Sleijfer, DT; de Wit, R; Kirkels, WJ; Schmeller, N; Clemm, C; Habbema, JDF; Keizer, HJ

    Purpose: To validate predictions of the histology (necrosis, mature teratoma, or cancer) of residual retroperitoneal masses in patients treated with chemotherapy for metastatic nonseminomatous testicular germ cell tumor. Patients and Methods: We studied 172 testicular cancer patients who underwent

  10. Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation

    Directory of Open Access Journals (Sweden)

    Kalpana S Vora

    2017-01-01

    Full Text Available Bardet–Biedl syndrome (BBS is a multisystem autosomal recessive disorder with clinical and genetic heterogeneity. It is a type of ciliopathy characterized by retinal dystrophy, central obesity, polydactyly, cognitive impairment, and gonadal and renal dysgenesis. It has been suggested that the involved proteins attach to the basal body of ciliated cells making this a disorder of ciliary dysfunction. We report two cases of typical BBS in a 17-year-old female and 29-year-old male patient, who presented for live-related renal transplant. We discuss the relevant points of the syndrome regarding anesthetic management.

  11. Cryopreservation of testicular tissue before long-term testicular cell culture does not alter in vitro cell dynamics.

    Science.gov (United States)

    Baert, Yoni; Braye, Aude; Struijk, Robin B; van Pelt, Ans M M; Goossens, Ellen

    2015-11-01

    To assess whether testicular cell dynamics are altered during long-term culture after testicular tissue cryopreservation. Experimental basic science study. Reproductive biology laboratory. Testicular tissue with normal spermatogenesis was obtained from six donors. None. Detection and comparison of testicular cells from fresh and frozen tissues during long-term culture. Human testicular cells derived from fresh (n = 3) and cryopreserved (n = 3) tissues were cultured for 2 months and analyzed with quantitative reverse-transcription polymerase chain reaction and immunofluorescence. Spermatogonia including spermatogonial stem cells (SSCs) were reliably detected by combining VASA, a germ cell marker, with UCHL1, a marker expressed by spermatogonia. The established markers STAR, ACTA2, and SOX9 were used to analyze the presence of Leydig cells, peritubular myoid cells, and Sertoli cells, respectively. No obvious differences were found between the cultures initiated from fresh or cryopreserved tissues. Single or small groups of SSCs (VASA(+)/UCHL1(+)) were detected in considerable amounts up to 1 month of culture, but infrequently after 2 months. SSCs were found attached to the feeder monolayer, which expressed markers for Sertoli cells, Leydig cells, and peritubular myoid cells. In addition, VASA(-)/UCHL1(+) cells, most likely originating from the interstitium, also contributed to this monolayer. Apart from Sertoli cells, all somatic cell types could be detected throughout the culture period. Testicular tissue can be cryopreserved before long-term culture without modifying its outcome, which encourages implementation of testicular tissue banking for fertility preservation. However, because of the limited numbers of SSCs available after 2 months, further exploration and optimization of the culture system is needed. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  12. Exploring men's preferred strategies for learning about testicular disorders inclusive of testicular cancer: A qualitative descriptive study.

    Science.gov (United States)

    Saab, Mohamad M; Landers, Margaret; Hegarty, Josephine

    2017-02-01

    Men's awareness of testicular disorders is lacking and their intention to seek help for testicular symptoms is sub-optimal. Studies conducted to explore and raise men's awareness of testicular disorders did not address their preferred learning strategies and failed to include men who are at risk for health inequities. The aim of this study was to explore, in-depth, the preferred strategies for learning about testicular disorders inclusive of testicular cancer among men who self-identify as heterosexual, gay, or bisexual. Maximum variation and snowball sampling were used to recruit 29 men aged 18-47 years. Participation was sought from community and youth organizations and a university in the Republic of Ireland. Semi-structured individual interviews and focus groups were conducted. Interviews were audio-recorded and transcribed verbatim. Inductive analysis of manifest content was used. Seventeen informants self-identified as heterosexual, 11 as gay, and one as bisexual. Four main categories emerged, namely: strategies to enhance awareness (television, internet, campaigns, print media), educational dos and don'ts (tailoring effective messages, drawbacks of national initiatives, ineffective learning strategies), implications of raising awareness (risks and benefits of increasing awareness), and learning among gay and bisexual men (learning needs and strategies). Future studies promoting awareness of testicular disorders should take into account men's preferred learning strategies. National campaigns should be delivered frequently and altered occasionally in order to achieve a top-up effect. Clinicians are encouraged to educate young men about the seriousness of testicular symptoms and the importance of seeking timely medical attention for any abnormalities. Copyright © 2016 Elsevier Ltd. All rights reserved.

  13. Potential testicular toxicity of sodium nitrate in adult rats.

    Science.gov (United States)

    Aly, Hamdy A A; Mansour, Ahmed M; Abo-Salem, Osama M; Abd-Ellah, Hala F; Abdel-Naim, Ashraf B

    2010-02-01

    Nitrate is a common contaminant in groundwater aquifers. Current study aimed at evaluating the potential testicular toxicity of sodium nitrate in rats. Sodium nitrate was given orally to rats at doses of 50, 100 or 200 mg/kg/day for 60 consecutive days. Sperm count and motility, daily sperm production and testis weight were significantly decreased specially at high doses. Testicular activity of lactate dehydrogenase-X, glucose-6-phosphate dehydrogenase, and acid phosphatase were inhibited in a dose-related manner. Lipid peroxides and hydrogen peroxide production were significantly increased in all treated animals. This was accompanied by inhibition of testicular activities of superoxide dismutase and glutathione peroxidase. Fifty mg/kg of sodium nitrate did not significantly alter catalase or glutathione reductase activity. Glutathione was significantly decreased by sodium nitrate in a dose-related manner. The decrease in sperm count and motility and daily sperm production was confirmed by histopathological studies which indicated chromatolysis, pyknosis and necrosis in spermatocytes. In conclusion, subchronic exposure of rats to sodium nitrate results in testicular toxicity as evidenced by decreased sperm count and motility, daily sperm production and testis weight, inhibited activity of enzyme markers of spermatogenesis and induction of histopathological changes. These effects are attributed, at least partly, to testicular oxidative stress. Copyright 2009. Published by Elsevier Ltd.

  14. Pattern of Testicular Biopies as Seen in a Tertiary Institution in ...

    African Journals Online (AJOL)

    Background: Testicular biopsy is an acknowledged method of examination of the testes for diagnostic and therapeutic purposes. We describe the pattern of testicular histologies in our environment. Materials and Methods: We carried out a retrospective review of testicular histology results from the Pathology Department of ...

  15. File list: DNS.Gon.10.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available DNS.Gon.10.AllAg.Testicular_somatic_cells mm9 DNase-seq Gonad Testicular somatic ce...lls http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/DNS.Gon.10.AllAg.Testicular_somatic_cells.bed ...

  16. File list: DNS.Gon.05.AllAg.Testicular_germ_cells [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  17. Study on the incidence of testicular and epididymal appendages in patients with cryptorchidism

    Directory of Open Access Journals (Sweden)

    Favorito Luciano A.

    2004-01-01

    Full Text Available OBJECTIVE: To study the incidence of testicular and epididymal appendages in patients with cryptorchidism. MATERIALS AND METHODS: We studied 65 patients with cryptorchidism, totalizing 83 testes and 40 patients who had prostate adenocarcinoma and hydrocele (control group, totalizing 55 testes. The following situations were analyzed: I absence of testicular and epididymal appendages, II presence of testicular appendage only, III presence of epididymal appendage, IV presence of testicular and epididymal appendage, V presence of 2 epididymal appendages and 1 testicular appendage and VI presence of paradidymis or vas aberrans of Haller. RESULTS: In patients with cryptorchidism we found testicular appendages in 23 cases (41.8%, epididymal appendages in 9 (16.3%, testicular and epididymal appendage in 8 (14.5%, 2 epididymal appendages and 1 testicular in 1 (1.8% and absence of appendages in 14 (25.4%. In the control group, we found testicular appendages in 29 (34.9%, epididymal appendages in 19 (22.8%, testicular and epididymal appendage in 7 (8.4%, and absence of appendages in 28 (33.7%, we did not find 2 epididymal appendages in this group, and none of the patients in the 2 groups presented paradidymis or vas aberrans of Haller. CONCLUSION: The occurrence of testicular and epididymal appendages is quite variable. There was no statistically significant difference in the incidence and distribution of the testicular and epididymal appendages between patients with cryptorchidism and those from the control group.

  18. File list: DNS.Gon.05.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

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  6. File list: ALL.Gon.50.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

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  8. File list: Unc.Gon.50.AllAg.Testicular_germ_cells [Chip-atlas[Archive

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  13. File list: Pol.Gon.50.AllAg.Testicular_germ_cells [Chip-atlas[Archive

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  14. A study on testicular characteristics of ram lambs of Arsi breed fed ...

    African Journals Online (AJOL)

    A study on testicular characteristics of ram lambs of Arsi breed fed on two maize varieties (QPM and BH540) ... The results suggest that the plane of nutrition influences testicular size. Whole plant silage feeding provided improved testicular size. Therefore, maize whole plant silage feeding might be helpful to improve the ...

  15. Assessment of testicular volume: A comparison of fertile and sub-fertile West African men

    Directory of Open Access Journals (Sweden)

    K.H. Tijani

    2014-09-01

    Conclusion: Testicular volume on scrotal ultrasound correlates well with severity of oligospermia in men with sub-fertility. While the critical mean testicular volume necessary for adequate spermatogenesis has not been determined, it appears there is an optimal testicular volume of 18–20 ml at which spermatogenesis is at its peak in sub-fertile Nigerian men.

  16. File list: DNS.Gon.20.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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  11. File list: Pol.Gon.05.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  12. File list: His.Gon.50.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  13. File list: Oth.Gon.10.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  14. File list: Oth.Gon.50.AllAg.Testicular_germ_cells [Chip-atlas[Archive

    Lifescience Database Archive (English)

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  15. Studies on the influence of radiation and chemotherapy on pituitary-testicular axis in patients with testicular tumor

    Energy Technology Data Exchange (ETDEWEB)

    Ogawa, Katsuaki (Yokohama City Univ. (Japan). Faculty of Medicine)

    1982-02-01

    Radiation and chemotherapy have been known as the highly effective treatment of patients with testicular tumor. To evaluate the influences of the therapies on pituitary-testicular axis, plasma FSH, LH and testosterone were determined by radioimmunoassay in 60 patients with testicular tumor before and after 1 to 102 months in the completion of radiation and chemotherapy. The results were summarized as follows: 1) In 10 out of 24 patients, plasma FSH and LH levels significantly increased within 20 months after 2,100 - 4,500 rad/3 - 6 weeks of radiation therapy. 2) In combination chromotherapy popularly used for testicular tumor, plasma FSH and LH in 8 of 22 patients markedly elevated within 20 months after the treatment. 3) The elevated gonadotropins returned to normal levels in approximately 50 months in patients received radiation or chemotherapy. 4) Plasma testosterone revealed normal levels in any therapeutic programs employed in the present study. 5) From the results of Gn-RH test, the pituitary gland seemed to have normal function. 6) Plasma testosterone showed incomplete response to hCG stimulation after 1 to 35 months of radiation or chemotherapy. Therefore, it was suggested that radiation and chemotherapy for the treatment of testicular tumor may impair not only seminiferous tubules but also Leydig cell for a couple of years.

  16. Using a vortex mixer for testicular sperm collection.

    Science.gov (United States)

    Tokuyama, Osamu; Nakamura, Yoshihiro; Ozaki, Koji; Kawashima, Kazumi; Fujino, Yuji; Ishiko, Osamu

    2003-11-01

    To evaluate 2 methods of processing testicular tissue for the retrieval of viable sperm from men with nonobstructive azoospermia. Fresh testicular tissue was obtained from nonobstructive azoospermia patients using a biopsy needle. The specimens were divided into 2 fractions. All specimens were minced and immersed in human tubal fluid (HTF). The first fraction was filtered through a nylon filter and incubated for 3 hours. The supernatant was centrifuged, resuspended in HTF and analyzed. The second fraction was immediately vortexed for 5 minutes and filtered through a nylon filter. The supernatant was centrifuged, resuspended in HTF and analyzed. Spermatozoa were obtained in 13 of 24 cases (54.2%) using the vortex method and in 5 of 24 cases (20.8%) with the nylon filter method. The vortex mixing method may be a better option than the conventional method for processing testicular tissue for sperm collection.

  17. A conservative approach to testicular rupture in adolescent boys.

    Science.gov (United States)

    Cubillos, Jimena; Reda, Edward F; Gitlin, Jordan; Zelkovic, Paul; Palmer, Lane S

    2010-10-01

    Management for blunt trauma with breach of the renal capsule or bladder (extraperitoneal) has largely become nonsurgical since a conservative approach proved to be effective and safe. Currently the recommendation for managing testicular rupture is surgical exploration and débridement or orchiectomy. We report outcomes in boys diagnosed with testicular rupture and treated without surgical intervention. In the last year we conservatively treated 7 consecutive boys with delayed presentation of testicular rupture after blunt scrotal trauma. Patients were treated with scrotal support, antibiotics to prevent abscess, rest, analgesics and serial ultrasound. We report clinical information and outcomes. The 7 boys were 11 to 14 years old and presented 1 to 5 days after injury. Trauma was to the left testis in 3 cases and to the right testis in 4. Patients presented with mild to moderate pain and similar scrotal swelling. Ultrasound findings consistently revealed hematocele and increased echogenicity. Blood flow was present in the injured portion of the testes in 3 cases and to the remainder of the affected testicle in 6 of the 7 boys. In the remaining boy an adequate waveform was not seen in either testicle, which the radiologist thought was secondary to prepubertal status. Other findings included scrotal edema, irregular contour and seminiferous tubule extrusion. Followup was greater than 6 months in all cases. Five boys were seen at the office and the 2 remaining had telephone followup. In all cases hematocele resolved, testicular size stabilized without atrophy and echogenicity normalized in the 5 patients with followup ultrasound. One patient required surgical repair of hydrocele 4 months after trauma but no other patient needed surgical exploration. No abscess or infection developed. A conservative approach in a select group of adolescent boys with testicular rupture can result in resolution of the fracture and maintenance of testicular architectural integrity

  18. Global trends in testicular cancer incidence and mortality.

    Science.gov (United States)

    Rosen, Alexandre; Jayram, Gautam; Drazer, Michael; Eggener, Scott E

    2011-08-01

    Epidemiologic studies on testicular cancer have focused primarily on European countries. Global incidence and mortality have been less thoroughly evaluated. Our goal was to gain a better understanding of the most recent global age-standardized incidence and mortality rates for testicular cancer and to use these values to estimate a region's health care quality. Age-standardized incidence rate (ASIR) and age-standardized mortality rate (ASMR) for testicular cancer were obtained for men of all ages in 172 countries by using the GLOBOCAN 2008 database, reflecting the annual rate of cancer incidence and mortality per 100,000 men. These data were evaluated on a regional level to compare incidence and mortality rates. Global plots of these values were constructed to better visualize geographic distributions. Finally, the ratio of ASIR to ASMR was calculated as a method to assess each region's proficiency in diagnosing and effectively treating testicular cancer. ASIR and ASMR were analyzed by region, and each region's ratio of ASIR to ASMR was calculated. Testicular cancer ASIR is highest in Western Europe (7.8%), Northern Europe (6.7%), and Australia (6.5%). Asia and Africa had the lowest incidence (ASMR was highest in Central America (0.7%), western Asia (0.6%), and Central and Eastern Europe (0.6%). Mortality was lowest in North America, Northern Europe, and Australia (0.1-0.2%). The ASIR-ASMR ratio was highest in Australia (65.0%) and lowest in western Africa (1.0%). National reporting systems varied by country, and data quality may have fluctuated between regions. Testicular cancer incidence remains highest in developed nations with primarily Caucasian populations. Variable ASIR-ASMR ratios suggest markedly different geographic-specific reporting mechanisms, access to care, and treatment capabilities. Copyright © 2011 European Association of Urology. Published by Elsevier B.V. All rights reserved.

  19. Sexual dysfunctions in men treated for testicular cancer

    DEFF Research Database (Denmark)

    Rosendal, Susanne; Kristensen, Ellids; Giraldi, Annamaria G E

    2008-01-01

    Patients treated for testicular cancer have increased risk of ejaculatory, orgasmic and erectile dysfunction compared with healthy men. The underlying relations are unclear. This review describes sexual dysfunctions that are associated with various treatment modalities. One meta-analysis and 11...... original works were examined. About one third of the patients experience one or more sexual problems in relation to the treatment. Only retroperitoneal surgery can cause a specific sexual dysfunction, namely loss of ejaculation ability or ejaculatory functioning. Psychosexual causes are important...... for understanding sexual dysfunctions in patients with testicular cancer....

  20. Predictive value of FSH, testicular volume, and histopathological findings for the sperm retrieval rate of microdissection TESE in nonobstructive azoospermia: a meta-analysis.

    Science.gov (United States)

    Li, Hao; Chen, Li-Ping; Yang, Jun; Li, Ming-Chao; Chen, Rui-Bao; Lan, Ru-Zhu; Wang, Shao-Gang; Liu, Ji-Hong; Wang, Tao

    2018-01-01

    We performed this meta-analysis to evaluate the predictive value of different parameters in the sperm retrieval rate (SRR) of microdissection testicular sperm extraction (TESE) in patients with nonobstructive azoospermia (NOA). All relevant studies were searched in PubMed, Web of Science, EMBASE, Cochrane Library, and EBSCO. We chose three parameters to perform the meta-analysis: follicle-stimulating hormone (FSH), testicular volume, and testicular histopathological findings which included three patterns: hypospermatogenesis (HS), maturation arrest (MA), and Sertoli-cell-only syndrome (SCOS). If there was a threshold effect, only the area under the summary receiver operating characteristic curve (AUSROC) was calculated. Otherwise, the pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), and the diagnostic odds ratio (DOR) were also calculated. Twenty-one articles were included in our study finally. There was a threshold effect among studies investigating FSH and SCOS. The AUSROCs of FSH, testicular volume, HS, MA, and SCOS were 0.6119, 0.6389, 0.6758, 0.5535, and 0.2763, respectively. The DORs of testicular volume, HS, and MA were 1.98, 16.49, and 1.26, respectively. The sensitivities of them were 0.80, 0.30, and 0.27, while the specificities of them were 0.35, 0.98, and 0.76, respectively. The PLRs of them were 1.49, 10.63, and 1.15, respectively. And NLRs were 0.73, 0.72, and 0.95, respectively. All the investigated factors in our study had limited predictive value. However, the histopathological findings were helpful to some extent. Most patients with HS could get sperm by microdissection TESE.

  1. Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management.

    Science.gov (United States)

    Tam, Yuk Him; Wong, Yuen Shan; Pang, Kristine Kit Yi; To, Ka Fai; Yiu, Alice Ka Wah; Wong, Hei Yi; Tsui, Siu Yan; Mou, Jennifer Wai Cheung; Chan, Kin Wai; Lee, Kim Hung

    2016-09-01

    To investigate the risk of gonadal germ cell neoplasms (GCN) in children with 45,X/46,XY gonadal dysgenesis and its relation to the clinical presentations. We conducted a retrospective study reviewing the clinical and gonadal features of all consecutive children with 45,X/46,XY gonadal dysgenesis who received gonadal management in a tertiary center from 1985 to 2015. Study subjects were divided into Group I(significant genitalia anomaly), Group II(female phenotype) and Group III(male phenotype). 21 children were studied (Group I=8; Group II=11; Group III=2). All 19 children of Group I and II eventually underwent bilateral gonadectomy. One patient of Group III underwent gonadal biopsy which showed increase in fibrous tissue in the testes without any GCN. 3/8(37.5%) and 6/11(54.5%) of patients in Group I and II respectively had either gonadoblastoma (GB) or carcinoma-in-situ (CIS) or both affecting one or both gonads. Among Group I patients, the 4 dysgenetic testes affected by CIS in 3 patients were intraabdominal (n=1), inguinal (n=1) and scrotal (n=2) in positions. Among Group II patients, 6/20 streak gonads had GB and 2/2 dysgenetic testes had GB or CIS. 45,X/46,XY children with significant genitalia anomaly or female phenotype are both at high risk of gonadal GCN. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Ultrasonographic diagnosis of torsion of testicular appendages; Diagnostico por ecografia de la torsion de los apendices testiculares

    Energy Technology Data Exchange (ETDEWEB)

    Esparza, J.; Gonzalez, A.; Cordero, J. L. [Hospital Virgen del Camino. Pamplona (Spain)

    2000-07-01

    To determine the efficacy of ultrasound in boys presenting torsion of a testicular appendage. A series of 30 boys with acute scrotal pain due to torsion of a testicular appendage was studied. Nine patients underwent surgery. The clinical findings and course in the remaining 21 suggested the presence of this abnormality. All of them underwent conventional and color Doppler ultrasound using a 7.5 MHz transducer. In 15 boys, ultrasound images depicted the affected appendage as a mass between the epididymal head and the testicle. In 13 cases, only signs of a inflammatory reaction, with enlargement of the epididymal head and tunicas presenting hyperflow and hydrocele, mimicking acute epididymities. In two cases, the images were normal. There is no definitive, distinguishing ultrasound image corresponding to testicular appendage torsion. Therefore, this diagnostic technique should be accompanied by clinical assessment. (Author) 14 refs.

  3. Diagnosis and management of testicular rupture after blunt scrotal trauma: a literature review.

    Science.gov (United States)

    Wang, Zhao; Yang, Jin-Rui; Huang, Yu-Meng; Wang, Long; Liu, Long-Fei; Wei, Yong-Bao; Huang, Liang; Zhu, Quan; Zeng, Ming-Qiang; Tang, Zheng-Yan

    2016-12-01

    Testicular rupture, one of the most common complications in blunt scrotal trauma, is the rupture of tunica albuginea and extrusion of seminiferous tubules. Testicular rupture is more inclined to young men, and injury mechanisms are associated with sports and motor accidents. After history taking and essential physical examination, scrotal ultrasound is the first-line auxiliary examination. MRI is also one of the vital complementary examinations to evaluate testicular rupture after blunt scrotal trauma. Surgical exploration and repair may be necessary when the diagnosis of testicular rupture is definite or suspicious. Postoperative follow-up is to monitor the relief of local symptoms and changes of testicular functions. This review sums up the literatures about testicular rupture after blunt scrotal trauma in recent 16 years and also refers some new advantages and perspectives on diagnosis and management of testicular rupture.

  4. Testicular neoplasia in undescended testes of cryptorchid boys-does surgical strategy have an impact on the risk of invasive testicular neoplasia?

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, Jørgen Mogens; Petersen, Bodil Laub

    2004-01-01

    testes, or if the patient has abnormal external genitalia or a known abnormal karyotype. These clinical characteristics occur most often in cases of bilateral cryptorchidism. 2) Surgery for cryptorchidism before 10 years of age 3) Clinical control, after surgery for cryptorchidism. In cases of testicular...... in special categories of patients, and also of the incidence of testicular neoplasia after orchiopexy with a simultaneous testicular biopsy in childhood. At surgery for cryptorchidism the risk of testicular neoplasia was 7/182 (4%) in cases with intra-abdominal testis, abnormal external genitalia other than...... cryptorchidism, or diagnosed abnormal karyotype, versus no case in the 1281 patients without these characteristics (Fisher's exact test, p test...

  5. Ultrasound measurements of testicular volume: Comparing the three ...

    African Journals Online (AJOL)

    T.U. Mbaeri

    Objective: To determine the accuracy of various ultrasound formulas for measuring the testicular volume in humans by comparing the resultant ... of the components of a minimum full evaluation of male infertility is palpation of the testes and ... opted for orchidectomy after counseling in our center. Subjects and methods.

  6. Original article Testicular Biopsies of Azoospermic Men at The ...

    African Journals Online (AJOL)

    mn

    The patients with normal spermatogenesis were further evaluated and managed for obstructive azoospermia while those with testicular hypofunction or failure were offered medical therapy and/or referred for assisted reproductive techniques. DISCUSSION. Male factor infertility remains a major challenge in clinical practice.

  7. Prevalence of testicular adrenal rest tissue in neonates.

    NARCIS (Netherlands)

    Bouman, A.; Hulsbergen- van de Kaa, C.A.; Claahsen-van der Grinten, H.L.

    2011-01-01

    BACKGROUND: Infertility is a serious complication among male congenital adrenal hyperplasia (CAH) patients which is often caused by testicular adrenal rest tumors (TART). TART are already present in childhood and early infancy in CAH patients. The incidence of TART in neonates without CAH has not

  8. Unusually Located Stroke After Chemotherapy in Testicular Germ Cell Tumors

    Directory of Open Access Journals (Sweden)

    Braulio Alexander Martinez MD

    2015-06-01

    Full Text Available Testicular cancer is a type of malignancy that affects young adults and has high rates of cure; however, as any malignancy, it is associated with an increased risk of ischemic or hemorrhagic cerebrovascular disease, given the systemic tumor effects or side effects of chemotherapy, which in turn increases morbidity, functional impairment, and additional risk of early death.

  9. a-Tocopherol (vitamin E) attenuates the testicular toxicity associated ...

    African Journals Online (AJOL)

    SERVER

    2007-06-18

    Jun 18, 2007 ... The results indicated that vitamin E moderated the deleterious effects of experimental cryptorchidism. Key words: ... testicular damage is in part, a consequence of increased generation of free radicals and oxidants ... the symptoms of aging (Eneslo and Verdone, 1980). The in vivo function of vitamin E as an ...

  10. Anomalous origin of left testicular artery from an additional renal ...

    African Journals Online (AJOL)

    Gonadal arteries arising from additional renal arteries present an important variation that should be noted in order to avoid inadvertent injury to these vessels in renal hilar dissection and retroperitoneal surgery. During routine dissection, we observed the unusual origin of the left testicular artery from an additional renal ...

  11. The influence of dietary supplementation on testicular growth rate in ...

    African Journals Online (AJOL)

    good nutritional regime were relatively larger. Oldham,. Adams, Gherardi, Lindsay & Mac Kintosh (1978) and. Masters & Fels (1984) concluded that the testes seem to be particularly sensitive to changes in nutrition and that rams may gain or loose testicular volume at a greater rate than live mass. In Merino rams Oldham, ...

  12. Testicular microlithiasis is associated with ethnicity and socioeconomic status

    DEFF Research Database (Denmark)

    Pedersen, Malene Roland Vils; Bartlett, Emily C; Rafaelsen, Søren Rafael

    2017-01-01

    BACKGROUND: There are limited studies about testicular microlithiasis (TML) and background information such as health, lifestyle, and socioeconomic status. PURPOSE: To assess the prevalence of TML in relation to socioeconomic status and ethnicity. MATERIAL AND METHODS: From a database of scrotal...

  13. Testicular tuberculosis in an HIV positive patient mimicking ...

    African Journals Online (AJOL)

    B.A. Ojo

    We present a 22 years old male with a year history of progressively increasing painless left testicular swelling with no constitutional symptoms. ... increased in size with associated pain in the contra lateral testis. The general examination ... circumstances, colour Doppler ultrasound is useful, as blood flow within subjects with ...

  14. Impact of organic hydroperoxides on rat testicular tissue and ...

    African Journals Online (AJOL)

    PRECIOUS

    2009-11-16

    Nov 16, 2009 ... Organic hydroperoxides such as t-butyl hydroperoxide and cumene hydroperoxide have been implicated to cause oxidative stress leading to damage in membrane lipids, proteins, carbohydrates and DNA. This study was aimed to develop an in vivo animal model. The effects of hydroperoxides on testicular ...

  15. The effect of sperm morphology and testicular spermatozoa ...

    African Journals Online (AJOL)

    Objective. To determine the correlation between sperm morphology groups (strict criteria) and testicular spermatozoa, and day 2 and 3 embryo quality in intracytoplasmic sperm injection (ICSI) and in vitro fertilisation (IVF) cases. Methods. A retrospective study was done of 2 402 IVF and ICSI-fertilised embryos classified as ...

  16. Testicular adrenal rest tumours in congenital adrenal hyperplasia

    NARCIS (Netherlands)

    Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.; Otten, B.J.

    2009-01-01

    In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological,

  17. Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia

    Science.gov (United States)

    Claahsen-van der Grinten, H. L.; Hermus, A. R. M. M.; Otten, B. J.

    2009-01-01

    In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological, histological, biochemical, and clinical features of TART and discuss treatment options. PMID:19956703

  18. Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Otten BJ

    2009-01-01

    Full Text Available In adult patients with congenital adrenal hyperplasia (CAH, the presence of testicular adrenal rest tumours (TART is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological, histological, biochemical, and clinical features of TART and discuss treatment options.

  19. Fertility in men with testicular germ cell tumors.

    NARCIS (Netherlands)

    Spermon, J.R.; Kiemeney, L.A.L.M.; Meuleman, E.J.H.; Ramos, L.; Wetzels, A.M.M.; Witjes, J.A.

    2003-01-01

    OBJECTIVE: To assess the prevalence of fertility or infertility in men before and after treatment for unilateral testicular cancer. The results were compared with the lifetime prevalence of infertility in the general population (20%-28%). DESIGN: Survey. SETTINGS: University referral center for

  20. The effect of unilateral vasectomy on testosterone and testicular ...

    African Journals Online (AJOL)

    Background: The effects of vasectomy on spermatogenesis and reproductive parameters are recognized to be speciedependent with marked differences in levels of perturbations observed. Objectives: To assess the impact of unilateral vasectomy on testosterone level and other testicular parameters in the male African giant ...

  1. A survey of etiologic hypotheses among testicular cancer researchers

    DEFF Research Database (Denmark)

    Stang, A; Trabert, B; Rusner, C

    2015-01-01

    Basic research results can provide new ideas and hypotheses to be examined in epidemiological studies. We conducted a survey among testicular cancer researchers on hypotheses concerning the etiology of this malignancy. All researchers on the mailing list of Copenhagen Testis Cancer Workshops and ...... etiologic hypotheses that include factors related to endocrine disruption, DNA damage, inflammation, and nutrition during pregnancy. The survey results may stimulate a multidisciplinary discussion about new etiologic hypotheses of testicular cancer.......Basic research results can provide new ideas and hypotheses to be examined in epidemiological studies. We conducted a survey among testicular cancer researchers on hypotheses concerning the etiology of this malignancy. All researchers on the mailing list of Copenhagen Testis Cancer Workshops...... and corresponding authors of PubMed-indexed articles identified by the search term 'testicular cancer' and published within 10 years (in total 2750 recipients) were invited to respond to an e-mail-based survey. Participants of the 8th Copenhagen Testis Cancer Workshop in May 2014 were subsequently asked to rate...

  2. Neonatal testicular tumour presenting as an acute scrotum

    African Journals Online (AJOL)

    Ann Pediatr Surg 8:19–21 c. 2012 Annals of Pediatric Surgery. Annals of Pediatric Surgery 2012, 8:19–21. Keywords: acute scrotum, granulosa cell tumour, neonatal, testicular tumour .... that trisomy 12 may be widespread (75%) in paediatric granulosa stromal cell tumours and can be identified by fluorescence in-situ ...

  3. Testicular cancer: Management challenges in an African developing ...

    African Journals Online (AJOL)

    Advances in oncology have greatly improved the prognosis of testicular cancer. In developing countries, however, the outcome is still ... Treatment consisted of radical orchidectomy in all patients and cisplatin-based chemotherapy and radiotherapy in some patients. One patient with a tumour in an intra-abdominal testis ...

  4. Aluminium-induced Liver and Testicular Damage: Effects of ...

    African Journals Online (AJOL)

    Background: Aluminium is believed to be non toxic and easily eliminated from the body, a belief which encourages its use in daily life. However, several studies have reported its hepatotoxicity and testicular derangement in animals and humans. Objective: The protective potential of Piliostigma thonningii (250mg/kg of body ...

  5. Testicular torsion on the Jos Plateau | Ugwu | West African Journal ...

    African Journals Online (AJOL)

    Testicular pain, retraction and scrotal swelling were the most common presenting complaints. The highest incidence 65%) occurred between November and February when the weather on the Jos plateau is coldest. At surgery, 34 (60%) patients were found to have associated congenital anomalies; in 22 (39%) patients, the ...

  6. (Dis)embodying gender and sexuality in testicular cancer.

    Science.gov (United States)

    Gurevich, Maria; Bishop, Scott; Bower, Jo; Malka, Monika; Nyhof-Young, Joyce

    2004-05-01

    Testicular cancer is the most common cancer in men aged 15-34. Although post-treatment prognosis is generally very good, the impact on sexuality, gender identity and fertility is amplified in this age group. A Canadian study of men with testicular cancer explores how men (re)consider questions of sexuality and gender post diagnosis and treatment. Semi-structured interviews with 40 men were analyzed using thematic decomposition, an analytic technique that combines discursive approaches with thematic analysis. The theoretical framework that guides this work relies on material discursive approaches. From an analytic stance, this perspective is concerned with a focus on the ways in which both subjectivity and the body are experienced and constituted in language. In particular, we are concerned with how these men interpret the (altered) male body as a locus of gender signification and gender disruption. Men in this study construct testicular cancer as alternately inhibiting and enhancing masculinity and sexuality. Disruption interpolates with potentiality. A discourse of precarious masculinity predominates these accounts, wherein the link between anatomy and masculinity is simultaneously asserted and disavowed. Constructions of anatomical essentialism (i.e., testicular integrity is equated with masculinity) are juxtaposed against construals of anatomical superfluousness (i.e., other sites of sexuality and male identity are emphasized as being more central).

  7. Relationship of testicular development with age, body weight ...

    African Journals Online (AJOL)

    Umut Cirit

    study has been conducted on the relation between testicular dimensions, spermatological characteristics and reproductive hormones of Kivircik rams. Recognition of the reproductive characteristics of a sheep breed is an essential starting point towards improving its productivity. Characterization of puberty and early sexual ...

  8. Honey Attenuates the Detrimental Effects of Nicotine on Testicular ...

    African Journals Online (AJOL)

    Epididymis sperm motility, viability, morphology and counts were estimated, serum Follicle Stimulating Hormone (FSH), Leutinizing Hormone (LH) and Testosterone were assayed using ELISA method and testicular histology were also assessed. Significant reduction in percentage sperm motility, viability, morphology and ...

  9. Testicular volume of healthy term neonates: Determination of ...

    African Journals Online (AJOL)

    Background: Testicular volume (TV) in neonates has some predictive values of clinical importance. Establishing the normal values of TV among term newborn males of every population is important as differences exist among different populations. Much is not known on TV among Igbo newborns. Aim: The aim of this study ...

  10. DIAGNOSIS AND TREATMENT OF METACHRONOUS TESTICULAR CANCER: A CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    A. S. Kalpinsky

    2013-01-01

    Full Text Available The incidence of bilateral testicular cancer is 5% in the total cohort of patients. Synchronous and metachronous testicular cancers are detected in 1-2 and 3% of cases, respectively. The standard treatment for testicular cancer is orchifuniculectomy and that for synchronous or metachronous cancer is organ-saving treatment, testectomy.The paper describes a clinical case of multiple primary metachronous testicular cancer. A 24-year-old patient underwent surgery (orchifuniculectomy and received 4 courses of BEP polychemotherapy for embryonal carcinoma of the left testicle at the P.A. Herzen Moscow Oncology Research Institute. After 55 months, a dynamic control examination diagnosed a 9-mm tumor in his single right testis that was thereafter resected. Its histological examination revealed embryonal carcinoma with solitary structures in the immature teratoma. Following 22 months, a control examination showed a recurrence of the disease, for which orchifuniculectomy of the single right testis, followed by hormone replacement therapy, was performed. The follow-up period was 80 months; no recurrence is now observed.

  11. Assessment of the effects of parenteral quinine on testicular ...

    African Journals Online (AJOL)

    Assessment of the effects of parenteral quinine on testicular histology and sperm parameters in wistar rats. JE Ataman, D Baxter-Grillo, AAA Osinubi. Abstract. Twenty-four week duration experiment was conducted with twenty-one male Wistar rats (200 - 250 g) to investigate the effects of quinine on the testis. The rats were ...

  12. Impact of organic hydroperoxides on rat testicular tissue and ...

    African Journals Online (AJOL)

    PRECIOUS

    2009-11-16

    Nov 16, 2009 ... lower epididymal sperm concentrations and motility. Superoxide dismutase and glutathione activities were also higher with an accompanying increase in lipid peroxidation in both testicular tissue and epididymal sperm. It can be concluded that in vivo intraperitoneal administration of organic hydroperoxides ...

  13. Impact of organic hydroperoxides on rat testicular tissue and ...

    African Journals Online (AJOL)

    The effects of hydroperoxides on testicular tissue and epididymal sperm were investigated. Male Wistar rats aged 10 - 12 weeks were randomly placed in groups and received standard rat chow and water ad libitum. Animals were injected intraperitoneally with saline (0.5 ml), t-butyl hydroperoxide (5, 10, 20 and 40 ìM; 0.5 ...

  14. Semen characteristics and testicular biometry of Swiss albino mice ...

    African Journals Online (AJOL)

    Semen characteristics and testicular biometry of Swiss albino mice treated with water soluble fractions of spent engine oil. ... Abstract. Contamination of soil and underlying groundwater with spent engine oil from automobile workshops and garages has serious ecological problems affecting plants and animals.

  15. The effect of the melatonin on cryopreserved mouse testicular cells

    Directory of Open Access Journals (Sweden)

    Ghasem Saki

    2016-01-01

    Full Text Available Background: After improvements in various cancer treatments, life expectancy has been raised, but success in treatment causes loss of fertility in many of the survived young men. Cryopreservation of immature testicular tissues or cells introduced as the only way to preserve fertility. However, freezing has some harmful effects. Melatonin, a pineal gland hormone, has receptors in reproductive systems of different species. It is assumed that melatonin has free radical scavenger properties. Objective: The aim of this study was to evaluate the effects of melatonin on the cryopreserved testicular cells in mouse. Materials and Methods: Cells from 7- 10 days old NMRI mice testes were isolated using two step enzymatic digestion. The testicular cells were divided into two groups randomly and cryopreserved in two different freezing media with and without the addition of 100 μm melatonin. Finally, apoptosis of the cells was assayed by flow cytometry. Also, lactate dehydrogenase activity test was performed to assess the cytotoxicity. Results: The results of lactate dehydrogenase showed the nearly cytotoxic effect of melatonin. The results of flow cytometry showed increase in apoptosis in the cryopreserved cells in the media containing melatonin compared to the control group. Conclusion: The present study shows that melatonin has an apoptotic effect on cryopreserved mouse testicular cells.

  16. Testicular Morphometry and Sperm Quality of Rabbit Bucks Fed ...

    African Journals Online (AJOL)

    In developing nations, Moringa oleifera leaves are used for their nutritional and medicinal values and are rich in minerals and vitamins. Twenty rabbit bucks of mixed breeds, aged four to five weeks which weighed between 627.4g to 631.5g were used to evaluate the effect of Moringa oleifera leaf meal (MOLM) on testicular ...

  17. Testicular damage and farming environments - An integrative ecotoxicological link.

    Science.gov (United States)

    Parelho, Carolina; Bernardo, Filipe; Camarinho, Ricardo; Rodrigues, Armindo Santos; Garcia, Patrícia

    2016-07-01

    The exposure to agrochemicals during farming activities affects the function of the reproductive system, as revealed by the increasing worldwide evidence of male infertility amongst farmers. The main objective of this study was to untangle the link between agricultural practices and male reproductive impairment due to chronic exposure to xenobiotics (such as agrochemicals) in conventional and organic farming environments. For this purpose, male wild mice (Mus musculus) populations from sites representing two distinct farming practices (conventional and organic farming systems) were used as bioindicators for observable effects of testicular damage, namely on a set of histological and cellular parameters: (i) relative volumetric density of different spermatogenic cells and interstitial space; (ii) damage in the seminiferous tubules and (iii) apoptotic cells in the germinal epithelium. Results showed that mice from the conventional farming site bioaccumulated higher Pb hepatic loads, while mice from the organic farming site tend to bioaccumulate higher Cd hepatic loads. In general, for the analyzed testicular damage related parameters, mice from the organic farming site showed a similar performance than mice from the reference site. Mice from the conventional farming site stood out not only by underperforming in most studied parameters, while displaying an association between Pb hepatic loads and the observed testicular structural and functional disruption, but also by the increased stress index (Integrated Biomarker Response value). This study highlights the potential damaging effects of conventional farming practices on testicular structure and function, under natural conditions, raising concern about ensuing fertility risks for farmers. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. Breed Differences in Body Weight, Body and Testicular ...

    African Journals Online (AJOL)

    S) kids at weaning were used to compare body weight (BWT), body measurements (BM) and testicular measurements ™ of the two breeds. Efforts were also made to relate BWT with BM and TM in order to identify those that best predict BWT.

  19. Neonatal testicular tumour presenting as an acute scrotum

    African Journals Online (AJOL)

    hydrocele or testicular torsion. Abnormal karyotype has also been described. We describe an unusual case of a neonatal juvenile granulosa cell tumour presenting as an acutely swollen, tender testis, originally diagnosed as an acute hydrocele. We describe the management and review the literature pertaining to this rare ...

  20. Squamous Cell Carcinoma Arising in a Testicular Teratoma and ...

    African Journals Online (AJOL)

    Khan and Bagchi: Testicular squamous cell carcinoma with umbilical nodule tumors is usually localized in retroperitoneal lymph nodes including aortic, common iliac and caval nodes.[8]. In metastatic sites, the somatic-type malignancies have a poor prognosis. They do not respond to germ cell tumor chemotherapy; surgical ...

  1. Seasonal preponderance in testicular torsion: is it a myth?

    Science.gov (United States)

    Karakan, Tolga; Bagcioglu, Murat; Özcan, Serkan; Telli, Onur; Turgut, Hasan; Özkan, Mehmet; Germiyanoglu, Cancon

    2015-12-01

    In this study, we aimed to investigate the relation of testicular torsion and weather conditions, and to report results from Turkey, a country located between temperate and sub-tropical climate zones. A total of 56 patients that had surgery with the diagnosis of testicular torsion in Ankara Education and Research Hospital Urology Clinic between 2005 and 2014 were included in the study. Age of the patient, side of torsion, date and time at onset of pain, scrotal exploration time, ischemia duration, degree of cord torsion, the surgical procedure performed, and scrotal Doppler ultrasound (USG) findings at the time of diagnosis and 1 month after surgery were retrospectively analyzed. The web archives of Turkish Republic Meteorology General Directorate was used to determine the seasonal and mean temperatures at the time of diagnosis. The data were analyzed with SPSS v. 16 statistical package program using Chi-square, Mann- Whitney U and Wilcoxon tests. The mean age of 56 males included in the study was 18.88 ± 0.73 years. Right testicular torsion was seen in 23, and left testicular torsion was seen in 33 patients. Testicular arterial flow was absent in 37, arterial flow was moderately decreased in 12, and significantly decreased in 7 patients on Doppler USG. Detorsion procedure was performed in 46 patients while 10 patients had orchiectomy. Nine patients were admitted in summer, 14 in fall, 15 in winter, and 18 in spring. The mean air temperature at the time of admittance was 9.31 ± 1.05 °C. The prevalence of testicular torsion was not found different among the seasons (p=0.39). The analysis of air temperature at the time of admittance of the patients revealed that it was below 15 °C in 40 patients while it was above 15 °C in 16 patients, with a significant difference in between (p=0.002). The prevalence of testicular torsion did not change in relation with the seasons. However, it was determined that its prevalence was directly proportional to the air temperature

  2. Abdominal visceral and subcutaneous fat increase, insulin resistance and hyperlipidemia in testicular cancer patients treated with cisplatin-based chemotherapy.

    Science.gov (United States)

    Willemse, Peter-Paul M; van der Meer, Rutger W; Burggraaf, Jacobus; van Elderen, Saskia G C; de Kam, Marieke L; de Roos, Albert; Lamb, Hildo J; Osanto, Susanne

    2014-03-01

    Testicular cancer survivors treated with chemotherapy are at increased risk for metabolic syndrome (MetS) and cardiovascular disease (CVD). We explored acute effects of chemotherapy by assessing metabolic factors, abdominal fat volume, hepatic triglyceride content (HTC) and aortic wall stiffness. We studied 19 testicular cancer patients (age 20-54 years) before, at three and nine months after the start of chemotherapy. Blood serum was analyzed for lipids, glucose and insulin. Abdominal visceral and subcutaneous fat volume and aortic pulse wave velocity were assessed by magnetic resonance imaging (MRI) techniques; HTC was measured by proton MR spectroscopy. Three months after start of chemotherapy visceral abdominal fat volume had significantly increased from 202 ± 141 to 237 ± 153 ml (p = 0.009) whereas body mass index and subcutaneous fat volume significantly increased nine months after treatment from 24.4 ± 4.0 to 26.4 ± 4.1 kg/m(2) (p = 0.01) and from 556 ± 394 to 668 ± 460 ml (p = 0.002) respectively. Serum total cholesterol, low-density lipoprotein cholesterol and insulin also significantly increased three months after start of treatment from 4.88 ± 1.1 to 5.61 ± 1.50 mmol/l (p = 0.002), 3.31 ± 1.16 to 3.73 ± 1.41 mmol/l (p = 0.02) and 5.7 ± 4.4 to 9.6 ± 6.3 mU/ml (p = 0.03), respectively. Nine months after start of chemotherapy serum lipid and insulin concentrations had returned to baseline. HTC increased in seven of the 19 patients (36.8%) during follow-up. Aortic pulse wave velocity remained unchanged at the three time points measured. Cisplatin-based chemotherapy was associated with acute insulin resistance, dyslipidemia and an immediate increase in abdominal visceral adipose tissue and abdominal subcutaneous adipose tissue in testicular cancer patients. A large prospective cohort study with long follow-up is warranted to characterize the time course and relationship between acutely induced obesity and hypercholesterolemia and the development

  3. Adverse testicular effects of Botox® in mature rats.

    Science.gov (United States)

    Breikaa, Randa M; Mosli, Hisham A; Nagy, Ayman A; Abdel-Naim, Ashraf B

    2014-03-01

    Botox® injections are taking a consistently increasing place in urology. Intracremasteric injections, particularly, have been applied for cryptorchidism and painful testicular spasms. Studies outlining their safety for this use are, however, scanty. Thus, the present study aimed at evaluating possible testicular toxicity of Botox® injections and their effect on male fertility. Mature rats were given intracremasteric Botox® injections (10, 20 and 40 U/kg) three times in a two-week interval. Changes in body and testes weights were examined and gonadosomatic index compared to control group. Semen quality, sperm parameters, fructose, protein, cholesterol and triglycerides contents were assessed. Effects on normal testicular function were investigated by measuring testosterone levels and changes in enzyme activities (lactate dehydrogenase-X and acid phosphatase). To draw a complete picture, changes in oxidative and inflammatory states were examined, in addition to the extent of connective tissue deposition between seminiferous tubules. In an attempt to have more accurate information about possible spermatotoxic effects of Botox®, flowcytometric analysis and histopathological examination were carried out. Botox®-injected rats showed altered testicular physiology and function. Seminiferous tubules were separated by dense fibers, especially with the highest dose. Flowcytometric analysis showed a decrease in mature sperms and histopathology confirmed the findings. The oxidative state was, however, comparable to control group. This study is the first to show that intracremasteric injections of Botox® induce adverse testicular effects evidenced by inhibited spermatogenesis and initiation of histopathological changes. In conclusion, decreased fertility may be a serious problem Botox® injections could cause. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. Does varicocelectomy improve semen analysis outcomes in adolescents without testicular asymmetry?

    Science.gov (United States)

    Chu, David I; Zderic, Stephen A; Shukla, Aseem R; Srinivasan, Arun K; Tasian, Gregory E; Weiss, Dana A; Long, Christopher J; Canning, Douglas A; Kolon, Thomas F

    2017-02-01

    The main indications for adolescent varicocelectomy are testicular hypotrophy or pain. However, we have previously shown that both serial total testicular volume and volume differential are weakly associated with semen quality. The ultimate patient goal is paternity, but semen analysis is critical to appropriate management of varicocele. We hypothesize that varicocelectomy improves total motile count (TMC) among patients who only have abnormal semen analysis (SA) parameters, but not among those with potential hormonal dysfunction such as Klinefelter syndrome or cryptorchidism. We retrospectively reviewed our registry of adolescent males followed with a clinical left varicocele. For this study, subjects without sustained testicular asymmetry, who were Tanner V, and gave at least one preoperative SA were included. Subjects were excluded if they had embolization for their varicocele or no postoperative SA. Primary outcome was change in TMC before and after surgery, compared using the Wilcoxon signed rank test after stratifying by surgical indication. Secondary outcomes included rates of improved TMC and normalized TMC (>20 million) after surgery, compared across covariates using the Fisher exact test. Seventeen patients met the eligibility criteria, 11 of whom underwent repair for only abnormal preoperative TMC. Overall, median age (interquartile range [IQR]) at first preoperative SA was 17.6 (15.9-17.9) years. The median preoperative TMC across all SA was 2.8 (0.7-7.4) million. The median age at surgery was 18.2 (16.8-18.9) years. Postoperatively, the median TMC across all SA increased to 18.2 (3.6-18.2) million (Wilcoxon signed rank test, p < 0.01; see Figure). The improvement in TMC occurred primarily in the group who only had abnormal preoperative TMC (82% improved, 55% normalized); lack of improvement was seen in patients who had a history of Klinefelter or orchiopexy for cryptorchidism. Adolescent varicocele patients should undergo SA after development of

  5. Effects of ozone therapy and taurine on ischemia/reperfusion-induced testicular injury in a rat testicular torsion model.

    Science.gov (United States)

    Aydos, Tolga Reşat; Başar, Mehmet Murad; Kul, Oğuz; Atmaca, Hasan Tarık; Uzunalıoğlu, Tuba; Kisa, Üçler; Efe, Oğuzhan Ekin

    2014-01-01

    To investigate the effect of ozone and/or taurine treatment comparatively on testicular damage due to ischemia/ reperfusion (I/R) injury in an experimental torsion model in rats. Adult Wistar rats with and without torsion/detorsion were used. In order to monitor the effect of ozone and/or taurine treatment on testicular damage due to I/R injury, following histopathological investigation apoptotic indexes were scored by TUNEL method. Moreover, tumor necrosis factor receptor 1 (TNFR1), caspase 3, caspase 8, endothelial nitric oxide synthase (eNOS), tumor necrosis factor alpha (TNFα), and cytochrome C immunostainings were performed and the levels of malondialdehyde, glutathione peroxidase, superoxide dismutase, catalase, total sulfhydryl, and nitric oxide were determined in the testicular tissue. Intraperitoneal ozone and/or taurine treatment prevented both histopathological damage and increase in the apoptotic index. Torsion did not exert an effect on the levels of TNFα and cytochrome C. Ozone and/or taurine treatment prevented increases in TNFR1, caspase 3, and caspase 8. The level of oxidative stress markers was unchanged. The increases in NO level and eNOS expression were prevented by ozone and/or taurine treatment in I/R groups. Using ozone therapy and/or taurine before reperfusion may be a solution for germ cell degeneration resulting from testicular torsion and related infertility.

  6. Testicular resistive index determined by Doppler ultrasonography in men with spinal cord injury - a case series.

    Science.gov (United States)

    Krebs, J; Göcking, K; Pannek, J

    2015-09-01

    In this case series, the testicular resistive index was determined in men with spinal cord injury. In ten men participating in our fertility programme, the peak systolic and end-diastolic velocity of centripetal testicular arteries was measured in triplicates by Doppler ultrasonography to calculate the testicular resistive index. Furthermore, the right and left testicular volume was determined by ultrasonography, blood samples were obtained for hormonal evaluation, and sperm analysis was performed according to the WHO guidelines. The median testicular resistive index measured 0.69 and was significantly (P < 0.001) greater than the reported cut-off value of 0.6. The spermiograms were characterised by normal sperm count but decreased sperm motility and plasma membrane integrity. The median right and left testicular volume was significantly (P < 0.01) smaller compared to the volumes measured in able-bodied adult males without scrotal pathology and measured 8.4 ml and 7.2 ml respectively. There was a significant (P = 0.005) correlation (rs  = 0.81) between testicular resistive index and sperm concentration. However, no correlations were observed between testicular resistive index and other variables. The testicular resistive index in men with spinal cord injury was significantly greater than 0.6. Measuring the testicular resistive index may represent a useful additional parameter in the assessment of infertility in spinal cord-injured men. © 2014 Blackwell Verlag GmbH.

  7. Testicular torsion and weather conditions: analysis of 21,289 cases in Brazil

    Directory of Open Access Journals (Sweden)

    Fernando Korkes

    2012-04-01

    Full Text Available PURPOSE: The hypothesis of association between testicular torsion and hyperactive cremasteric reflex, worsened by cold weather, has not been proved. Thirteen studies in the literature evaluated this issue, with inconclusive results. The aim of the present study was to evaluate the seasonality of testicular torsion in a large subset of patients surgically treated in Brazil, and additionally to estimate the incidence of testicular torsion. MATERIALS AND METHODS: Brazilian Public Health System Database was assessed from 1992-2010 to evaluate hospital admissions associated with treatment of testicular torsion. Average monthly temperature between 1992-2010 was calculated for each region. RESULTS: We identified 21,289 hospital admissions for treatment of testicular torsion. There was a higher number of testicular torsions during colder months (p = 0.002. To estimate the incidence of testicular torsion, we have related our findings to data from the last Brazilian census (2010. In 2010, testicular torsion occurred in 1.4:100,000 men in Brazil. CONCLUSIONS:Testicular torsion occurred at an annual incidence of approximately 1.4:100,000 men in Brazil in 2010. Seasonal variations do occur, with a significant increase of events during winter. Our findings support the theory of etiological role of cold weather to the occurrence of testicular torsion. Strategies to prevent these events can be based on these findings.

  8. Aetiology of testicular cancer: association with congenital abnormalities, age at puberty, infertility, and exercise. United Kingdom Testicular Cancer Study Group.

    Science.gov (United States)

    1994-05-28

    To determine the risk of testicular cancer associated with undescended testis, inguinal hernia, age at puberty, marital status, infertility, vasectomy, and amount of exercise. A population based case-control study with a questionnaire administered by an interviewer and with relevant supplementary data extracted from general practitioners' notes. Nine health regions within England and Wales. 794 men, aged 15-49 years, with a testicular germ cell tumour diagnosed between 1 January 1984 and 1 January 1987; each had an age matched (within one year) control selected from the list of their general practitioner. There was a significant association of testicular cancer with undescended testis (odds ratio 3.82; 95% confidence interval 2.24 to 6.52) and inguinal hernia (1.91; 1.12 to 3.23). The excess risk associated with undescended testis was eliminated in men who had had an orchidopexy before the age of 10 years. There were positive associations with early age at voice breaking, early age at starting to shave, and infertility. There was a significant association with a sedentary lifestyle and a moderate protective effect of exercise. There was no association with vasectomy. This study confirms previous reports that developmental urogenital abnormalities result in an increased risk of testicular cancer. The trend to perform orchidopexy at younger ages may reduce the risk associated with undescended testis. The increased risks associated with early age at puberty and low amounts of exercise may be related to effects of exposure to endogenous hormones. Changes in both of these factors may partly contribute to the increasing rates of testicular cancer observed in the past few decades.

  9. [Iris-corneal dysgenesis].

    Science.gov (United States)

    Ignat, Fl; Preda, M; Olaru, C

    2002-01-01

    This work presents a family, a mother and her 3 daughters, aged: 10 months, 4 years, 5 years with Rieger's anomaly. For children, this anomaly is associated with glaucoma and buphtalmy, this last element is the one that made the family ask for medical assistance and come to the hospital. The study of the disease was done on five generations in the same family, on the mother's line. This revealed that in the mother's family the grand grandmother and her two sisters were blind at an early age (30-40 years old). The presence of the anomaly in many generations proves the genetic transmission of the disease. We have to mention that in the last generation, the most serious appearance was registered at the patient with the earliest age (10 months).

  10. An Uncommon Presentation of a Metachronous Testicular Primary Nonseminoma and Seminoma Separated by Two Decades and a Testicular Cancer Literature Review

    Directory of Open Access Journals (Sweden)

    Dennis Andrew Buck

    2017-09-01

    Full Text Available Introduction: Testicular cancer is the most common malignancy in men aged 15–40 years [Bols et al.: Philadelphia, Wolters Kluwer, Lippincott Williams & Wilkins, 2011]. Its incidence comprises 0.8% of all male cancers worldwide, with a mortality rate of 0.1%. The incidence has nearly doubled from 1975 to 2007 leading to the concern of environmental causes [Thomas: Am J Epidemiol 2013; 178: 1240–1245]. Testicular cancer presents as a painless testicular mass without transillumination. Testicular cancer is subcategorized under germ cell testicular cancer or sex cord-stromal tumors. Of the germ cell tumors, approximately 90% originate in the testis, with the other 10% being extragonadal [Bols et al.: Philadelphia, Wolters Kluwer, Lippincott Williams & Wilkins, 2011]. Typically, if a patient presents with a testicular mass and is 50 years old or older, the diagnosis of a primary lymphoma is considered until proven otherwise [Bols et al.: Philadelphia, Wolters Kluwer, Lippincott Williams & Wilkins, 2011]. Germ cell testicular cancer is further divided into the subtypes of seminomatous and nonseminomatous; each presents with a unique histology and differing treatment implications. Discussion: Given the uniqueness of our patient’s metachronous second testicular primary, we sought to compare our case findings to available historic publications. We sought to address the issues of the incidence of a second primary testicular malignancy with regard to varying histology, age of incidence, and timing of a second primary testicular cancer, the presence of bowel involvement, and finally a brief discussion of testosterone replacement therapy. Conclusion: A review of our case presents several unique factors. The above varying literature has shown our patient to have met the odds of a contralateral testicular primary development in that he had a nonseminomatous primary, followed by a second testicular primary seminoma. Our patient exceeded the 15-year

  11. An Uncommon Presentation of a Metachronous Testicular Primary Nonseminoma and Seminoma Separated by Two Decades and a Testicular Cancer Literature Review.

    Science.gov (United States)

    Buck, Dennis Andrew; Smith, Tristan Dean; Montana, Wilbur Nelson

    2017-01-01

    Testicular cancer is the most common malignancy in men aged 15-40 years [Bols et al.: Philadelphia, Wolters Kluwer, Lippincott Williams & Wilkins, 2011]. Its incidence comprises 0.8% of all male cancers worldwide, with a mortality rate of 0.1%. The incidence has nearly doubled from 1975 to 2007 leading to the concern of environmental causes [Thomas: Am J Epidemiol 2013; 178: 1240-1245]. Testicular cancer presents as a painless testicular mass without transillumination. Testicular cancer is subcategorized under germ cell testicular cancer or sex cord-stromal tumors. Of the germ cell tumors, approximately 90% originate in the testis, with the other 10% being extragonadal [Bols et al.: Philadelphia, Wolters Kluwer, Lippincott Williams & Wilkins, 2011]. Typically, if a patient presents with a testicular mass and is 50 years old or older, the diagnosis of a primary lymphoma is considered until proven otherwise [Bols et al.: Philadelphia, Wolters Kluwer, Lippincott Williams & Wilkins, 2011]. Germ cell testicular cancer is further divided into the subtypes of seminomatous and nonseminomatous; each presents with a unique histology and differing treatment implications. Given the uniqueness of our patient's metachronous second testicular primary, we sought to compare our case findings to available historic publications. We sought to address the issues of the incidence of a second primary testicular malignancy with regard to varying histology, age of incidence, and timing of a second primary testicular cancer, the presence of bowel involvement, and finally a brief discussion of testosterone replacement therapy. A review of our case presents several unique factors. The above varying literature has shown our patient to have met the odds of a contralateral testicular primary development in that he had a nonseminomatous primary, followed by a second testicular primary seminoma. Our patient exceeded the 15-year cumulative risk of contralateral metachronous testicular cancer of 1

  12. Autoimmunity and Turner's syndrome.

    Science.gov (United States)

    Lleo, Ana; Moroni, Luca; Caliari, Lisa; Invernizzi, Pietro

    2012-05-01

    Turner Syndrome (TS) is a common genetic disorder, affecting female individuals, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Morbidity and mortality are increased in TS but average intellectual performance is within the normal range. TS is closely associated to the presence of autoantibodies and autoimmune diseases (AID), especially autoimmune thyroiditis and inflammatory bowel disease. Despite the fact that the strong association between TS and AID is well known and has been widely studied, the underlying immunopathogenic mechanism remains partially unexplained. Recent studies have displayed how TS patients do not show an excess of immunogenic risk markers. This is evocative for a higher responsibility of X-chromosome abnormalities in the development of AID, and particularly of X-genes involved in immune response. For instance, the long arm of the X chromosome hosts a MHC-locus, so the loss of that region may lead to a deficiency in immune regulation. Currently no firm guidelines for diagnosis exist. In conclusion, TS is a condition associated with a number of autoimmune manifestations. Individuals with TS need life-long medical attention. As a consequence of these findings, early diagnosis and regular screening for potential associated autoimmune conditions are essential in the medical follow-up of TS patients. Copyright © 2011 Elsevier B.V. All rights reserved.

  13. Testicular cancer mortality in the Americas, 1980-2003.

    Science.gov (United States)

    Bertuccio, Paola; Malvezzi, Matteo; Chatenoud, Liliane; Bosetti, Cristina; Negri, Eva; Levi, Fabio; La Vecchia, Carlo

    2007-02-15

    Testicular cancer is generally curable if appropriate treatment is given. Data and statistics on testicular cancer mortality over the last decades are available from the US and Canada, but are more difficult to find, in a standard and comparable format, for Central and South American countries. The objective of the study was to compare death rates and trends over the 1980-2003 period in all the American countries that provide data. Overall and 20 to 44 years age-standardized (world population) mortality rates from testicular cancer, derived from the World Health Organization (WHO) database, are presented for the most recent available calendar years in 10 American countries. Trends in mortality for selected countries of the Americas are also given over the period 1980-2003. In the early 1980s the highest testicular cancer mortality rates were observed in Chile (1.7/100,000 at all ages, 3.6/100,000 at 20-44 years) and Argentina (0.9/100,000 at all ages, 1.7/100,000 at 20-44 years), as compared with 0.4/100,000 for all ages and 0.6/100,000 at 20 to 44 years in Canada, and 0.3/100,000 for all ages and 0.7/100,000 at 20 to 44 years in the US. In 2001-2003, testicular cancer mortality had fallen to 0.2/100,000 in men aged 20 to 44 years in Canada, and to 0.4/100,000 in the US. Conversely, rates were still 1.6/100,000 in Argentina, 2.2/100,000 in Chile and 1.2/100,000 in Mexico, and were around 0.5-0.6/100,000 in most other Latin American countries that provide data. Mortality from testicular cancer in (young) men remains exceedingly high in most Latin American countries. Urgent intervention is required to provide treatment (essentially modern integrated platinum-based chemotherapy) for this largely curable neoplasm in young men.

  14. Testicular sparing surgery in small testis masses: A multinstitutional experience

    Directory of Open Access Journals (Sweden)

    Andrea B. Galosi

    2016-12-01

    Full Text Available Introduction: The incidence of benign testicular tumors is increasing in particular in small lesion incidentally found at scrotal ultrasonography. Primary aim of this study was to perform radical surgery in malignant tumor. Secondary aim was to verify the efficacy of the diagnostic-therapeutic pathway recently adopted in management of small masses with testis sparing surgery in benign lesions. Materials and methods: In this multicenter study, we reviewed all patients with single testis lesion less than 15 mm at ultrasound as main diameter. We applied the diagnostic-therapeutic pathway described by Sbrollini et al. (Arch Ital Urol Androl 2014; 86:397 which comprises: 1 testicular tumor markers, 2 repeated scrotal ultrasound at the tertiary center, 3 surgical exploration with inguinal approach, intraoperative ultrasound, and intraoperative pathological examination. Definitive histology was reviewed by a dedicated uro-pathologist. Results: Twenty-eight patients completed this clinical flowchart. The mean lesion size was 9.3 mm (range 2.5-15. Testicular tumor markers were normal except in a case. Intraoperative ultrasound was necessary in 8/28 cases. We treated 11/28 (39.3% with immediate radical orchiectomy and 17/28 (60.7% with testis-sparing surgery. Definitive pathological results were: malignant tumor in 6 cases (seminoma, benign tumor in 10 cases (5 Leydig tumors, 2 Sertoli tumors, 1 epidermoid cyst, 1 adenomatoid tumor, 1 angiofibroma, benign disease in 11 (8 inflammation with haemorragic infiltration, 2 tubular atrophy, 1 fibrosis, and normal parenchyma in 1 case. We observed a good concordance between frozen section examination and definitive histology. Any malignant tumor was treated conservatively. Any delayed orchiectomy was necessary based on definitive histology. Conclusions: The incidence of benign lesions in 60% of small testis lesions with normal tumor markers makes orchiectomy an overtreatment. Testicular sparing surgery of single

  15. Disgenesia gonadal mixta con fórmula cromosómica 45,X/46,X, (mar. Presentación de una paciente Mixed gonodal dysgenesis with chromosomic formula 45,X/46,X (mar. A case report

    Directory of Open Access Journals (Sweden)

    Pedro González Fernández

    2002-12-01

    Full Text Available Se presentó una paciente con estigmas turnerianos y cariotipo 45,X/46,XX con diagnóstico inicial de síndrome de Turner a la que se le realizó clitoridectomía por hipertrofia del clítoris a los 8 meses de edad. Se reevaluó a los 6 años de edad y se le realizó cariotipo con técnicas de bandas G (GTG con fórmula cromosómica de 45,X/46,X, (cromosoma marcador -mar; dicho marcador dio la impresión de una deleción del cromosoma X desde Xq13 ®Xq ter y Xp22 ®Xp ter. Se completó dicho estudio con técnica molecular de reacción en cadena de la polimerasa (PCR y se identificó el gen SRY en el cromosoma marcador. Se realizó intervención quirúrgica por mínimo acceso y se comprobó ausencia de útero así como trompa en el lado derecho con ausencia de gónada y en el lado opuesto, testículo rudimentario; se planteó el diagnóstico de disgenesia gonadal mixta.A patient with Turner stigmas and karyotype 45,X/46,XX with initial diagnosis of Turner's syndrome is presented. Clitoridectomy was performed due to hypertrophy of the clitoris when she was 8. She was reevaluated at 6 and karyotype was made by using G bands techniques (GTG with chromosomic formula of 45,X/46,X, (marker chromosome -mar; such marker gave the impression of a deletion of chromosome X from Xq13 ®Xq ter and Xp22 ®Xp ter. This study was completed with the molecular technique of polymerase chain reaction (PCR and the SRY gene was identified in the marker chromosome. The patient underwent minimum access surgery and it was proved the absence of uterus and tube on the right side with no gonad and a rudimentary testis on the opposite side. Mixed gonodal dysgenesis was diagnosed.

  16. [Asynchronous Bilateral Testicular Infarction with Suspected Polyarteritis Nodosa : A Case Report].

    Science.gov (United States)

    Kurokawa, Masayuki; Naito, Sei; Ichiyanagi, Osamu; Suto, Aya; Kurota, Yuta; Sakurai, Toshihiko; Nishida, Hayato; Kawazoe, Hisashi; Kato, Tomoyuki; Nagaoka, Akira; Ito, Hiromi; Yamakawa, Mitsunori; Tsuchiya, Norihiko

    2016-12-01

    This report documents a case of asynchronous bilateral testicular infarction. The patient was a 42- year-old man who presented with left testicular pain and swelling. He had a past history of right idiopathic testicular infarction and underwent a right orchiectomy 6 years ago. He also had received treatment for 5 years for suspected polyarteritis nodosa (PAN). The left scrotal pain persisted for a week and left orchiectomy was performed. Pathological evaluations demonstrated a benign testis with testicular hemorrhage and chronic vasculopathy. There was no fibrinoid necrosis of medium-size vessel walls which characterizes PAN. In this report, we review the pathogenesis, risk of contralateral testicular infarction, and management of testicular infarction.

  17. Fourth cranial nerve palsy and Brown syndrome: two interrelated congenital cranial dysinnervation disorders?

    Science.gov (United States)

    Kaeser, Pierre-François; Brodsky, Michael C

    2013-06-01

    Based on neuroimaging data showing absence of the trochlear nerve, congenital superior oblique palsy is now classified as a congenital cranial dysinnervation disorder. A similar absence of the abducens nerve is accompanied by misinnervation to the lateral rectus muscle from a branch of oculomotor nerve in the Duane retraction syndrome. This similarity raises the question of whether some cases of Brown syndrome could arise from a similar synkinesis between the inferior and superior oblique muscles in the setting of congenital superior oblique palsy. This hypothesis has gained support from the confluence of evidence from a number of independent studies. Using Duane syndrome as a model, we critically review the accumulating evidence that some cases of Brown syndrome are ultimately attributable to dysgenesis of the trochlear nerve.

  18. Characteristics of symptomatic men with testicular microlithiasis:A Danish cross-sectional questionnaire study

    OpenAIRE

    Pedersen, M. R.; Møller, H; Rafaelsen, S R; Jørgensen, M M B; Osther, P J; Vedsted, P

    2017-01-01

    Testicular microlithiasis (TML) is an incidental finding at ultrasonography of the scrotum. A link between testicular microlithiasis and testicular cancer has been suggested. However, the majority of studies are retrospective using ultrasonography with minor data on health status and life style characteristics. Our objective was to investigate if lifestyle and health are associated with TML. In 2014, we conducted a self-administered questionnaire survey including 1538 men, who all due to test...

  19. Spermatogenesis in Klinefelter's syndrome.

    Science.gov (United States)

    Arce, B; Padrón, S

    1980-01-01

    The results of a study of seminal fluid, chromosomal formula and testicular tissue performed on 32 patients with Klinefelter's syndrome are presented. The significance of the microscopic study of seminal fluid in this syndrome is well emphasized. The possible relationship of the histological pattern to spermatogenic function and chromosomal constitution is discussed. Our conclusions are that most patients were azoospermic and the the volume of the ejaculate was low or absent. The decreased density of seminal fluid was the result of the absence of spermatozoa. The seminal pH remained normal during the study. Finally, we consider that cases showing areas of spermatogenesis with spermatozoa might correspond to a gondal mosaicism we have failed to diagnose.

  20. Testicular germ cell tumors: Molecular genetic and clinicomorphological aspects

    Directory of Open Access Journals (Sweden)

    M. V. Nemtsova

    2015-01-01

    Full Text Available Testicular tumors are the most common form of solid cancer in young men. According to the 2004 WHO classification, testicular germ cell tumors (TGCT may present with different histological types. Embryonic cells of varying grade may be a source of TGCT and the occurrence of this type of tumors is directly related to the formation of a pool of male sex cells and gametogenesis. The paper gives information on mo- lecular stages for the process of formation of male sex cells in health, as well as ways of their impairments leading to TGCT. An investigation of the profiles of gene expression and the spectrum of molecular damages revealed genes responsible for a predisposition to the sporadic and hereditary forms of TGCT. The paper presents the current molecular genetic and clinicomorphological characteristics of TGCT. 

  1. Stomach Cancer Following Hodgkin Lymphoma, Testicular Cancer and Cervical Cancer

    DEFF Research Database (Denmark)

    Gilbert, Ethel S; Curtis, Rochelle E; Hauptmann, Michael

    2017-01-01

    To further understand the risk of stomach cancer after fractionated high-dose radiotherapy, we pooled individual-level data from three recent stomach cancer case-control studies. These studies were nested in cohorts of five-year survivors of first primary Hodgkin lymphoma (HL), testicular cancer...... (TC) or cervical cancer (CX) from seven countries. Detailed data were abstracted from patient records and radiation doses were reconstructed to the site of the stomach cancer for cases and to the corresponding sites for matched controls. Among 327 cases and 678 controls, mean doses to the stomach were...... 15.3 Gy, 24.7 Gy and 1.9 Gy, respectively, for Hodgkin lymphoma, testicular cancer and cervical cancer survivors, with an overall mean dose of 10.3 Gy. Risk increased with increasing radiation dose to the stomach cancer site (P

  2. Testicular germ cell tumors: Molecular genetic and clinicomorphological aspects

    Directory of Open Access Journals (Sweden)

    M. V. Nemtsova

    2015-03-01

    Full Text Available Testicular tumors are the most common form of solid cancer in young men. According to the 2004 WHO classification, testicular germ cell tumors (TGCT may present with different histological types. Embryonic cells of varying grade may be a source of TGCT and the occurrence of this type of tumors is directly related to the formation of a pool of male sex cells and gametogenesis. The paper gives information on mo- lecular stages for the process of formation of male sex cells in health, as well as ways of their impairments leading to TGCT. An investigation of the profiles of gene expression and the spectrum of molecular damages revealed genes responsible for a predisposition to the sporadic and hereditary forms of TGCT. The paper presents the current molecular genetic and clinicomorphological characteristics of TGCT. 

  3. Usefulness of gallium-67 citrate scanning in testicular seminoma

    Energy Technology Data Exchange (ETDEWEB)

    Willan, B.D.; Penney, H.; Castor, W.R.; McGowan, D.G.

    1987-10-01

    An analysis of 77 consecutive patients with a histologic diagnosis of seminoma testis, assessed and treated at the Cross Cancer Institute between 1977 and 1982, is presented. Ga-67 citrate was first used in the assessment of patients with malignant testicular tumors in 1973. Following three years of study that supported the observation of the gallium-avid nature of seminoma, gallium scans became routine in the initial staging assessment and were used also when recurrence was suspected. From 1977 through 1982, 72 patients with biopsy-proven seminoma testis were assessed initially for extent of disease by Ga-67 scanning. Comparison with intravenous pyelography and bipedal lymphography was possible for accuracy of tumor assessment. The scan sensitivity was 83%, and the specificity was 95%. During the same period, gallium was studied in nonseminomatous testicular tumors but the results were disappointing and its use was discontinued. The gallium-avid nature of seminoma testis may be useful in determining the extent of disease.

  4. Testicular function in a birth cohort of young men

    DEFF Research Database (Denmark)

    Hart, R J; Doherty, D A; McLachlan, R I

    2015-01-01

    sperm concentration (P = 0.012) and total sperm output (P = 0.030) and lower serum inhibin B levels (P = 0.046). Smoking, alcohol intake, herniorrhaphy, an epididymal cyst, medication and illicit drugs were not associated with any significant semen variables, testicular volume...... and obesity may impact on human testicular function, most common drug exposures and the presence of epididymal cysts appear to have no or minimal adverse impact. WHAT IS KNOWN ALREADY: The majority of previous attempts to develop valid reference populations for spermatogenesis have relied on potentially...... biased sources such as recruits from infertility clinics, self-selected volunteer sperm donors for research or artificial insemination or once-fertile men seeking vasectomy. It is well known that studies requiring semen analysis have low recruitment rates which consequently question their validity...

  5. Testicular fine needle aspiration cytology in adults and geriatric dogs

    OpenAIRE

    Sánchez R., Alfonso; Facultad de Recursos Naturales y Medicina Veterinaria, Escuela de Medicina Veterinaria, Universidad Santo Tomás, Viña del Mar; Díaz T., Daniela; Facultad de Recursos Naturales y Medicina Veterinaria, Escuela de Medicina Veterinaria, Universidad Santo Tomás, Viña del Mar; Melo A., Tamara; Facultad de Recursos Naturales y Medicina Veterinaria, Escuela de Medicina Veterinaria, Universidad Santo Tomás, Viña del Mar

    2017-01-01

    Con el propósito de describir y comparar la citología testicular en perros adultos y geriátricos se seleccionaron para orquiectomía 10 perros adultos (2-6 años) y 10 geriátricos (>8 años) sin patologías testiculares aparentes. Una vez recolectados los testículos se realizó punción y aspiración con aguja fina (AAF), obteniéndose cuatro muestras por perro. Las muestras fueron teñidas con May-Grünwald Giemsa y estudiadas al microscopio óptico. En la descripción celular se reconocieron los com...

  6. Dose-dependent protective effect of baicalin against testicular torsion-detorsion in rats.

    Science.gov (United States)

    Fouad, A A; Qutub, H O; Jresat, I

    2017-02-01

    Testicular torsion/detorsion induces oxidative/nitrosative stress, inflammation and apoptosis of testicular tissues. Baicalin exerts antioxidant and anti-inflammatory properties. This study investigated the possible protective effect of baicalin against testicular torsion-detorsion injury in rats. Surgical testicular torsion was induced for 2 h, followed by detorsion which was continued for 24 h. Baicalin was administered in three different doses (25, 50 and 100 mg kg-1 , by intraperitoneal injection). Each dose was given twice, the first 30 min before and the second 12 h after testicular detorsion. Baicalin, in a dose-dependent manner, decreased the torsion/detorsion-induced elevations of testicular malondialdehyde, nitric oxide, tumour necrosis factor-α, BCL2-associated X protein (Bax), cytosolic cytochrome c and caspase-3 and caspase-9 activities. Baicalin, dose dependently, attenuated the reductions of B-cell leucemia/lymphoma 2 (Bcl-2), and glutathione peroxidase and superoxide dismutase activities in testicular tissues resulted from torsion/detorsion. In addition, baicalin ameliorated the histopathological testicular tissue damage and reduced the expression of Fas ligand in rat testes exposed to torsion/detorsion in a dose-dependent manner. It was concluded that baicalin, dose dependently, ameliorated testicular injury induced by torsion/detorsion via its antioxidant, antinitrosative, anti-inflammatory and anti-apoptotic effects. © 2016 Blackwell Verlag GmbH.

  7. Testicular Growth During Puberty in Boys With and Without a History of Congenital Cryptorchidism

    DEFF Research Database (Denmark)

    Sadov, Sergey; Koskenniemi, Jaakko J; Virtanen, Helena E

    2016-01-01

    CONTEXT: The pattern of testicular growth during puberty may provide important information about early testicular damage and reproductive potential in adulthood. OBJECTIVE: To evaluate pubertal testicular growth in boys with congenital cryptorchidism and controls. DESIGN: Longitudinal case...... mL by orchidometer and 25 mm by ruler as cut-offs in definition of the onset of puberty. An orchidometer size of 3 mL and ruler length of 25 mm corresponded to 1.6 and 1.7 mL by ultrasound (with Lambert's formula), respectively. CONCLUSIONS: Testicular growth in puberty was impaired in congenitally...

  8. Aetiology of testicular cancer: association with congenital abnormalities, age at puberty, infertility, and exercise

    National Research Council Canada - National Science Library

    Forman, D; Pike, M C; Davey, G; Dawson, S; Baker, K; Chilvers, C E D; Oliver, R T D; Coupland, C A C

    1994-01-01

    Abstract Objective : To determine the risk of testicular cancer associated with undescended testis, inguinal hernia, age at puberty, marital status, infertility, vasectomy, and amount of exercise. Design...

  9. Tissue Engineered Testicular Prostheses With Prolonged Testosterone Release

    Science.gov (United States)

    2008-12-01

    in infertile men. Fertil. Steril ., Epub ahead of print. Marshall, S., 1986: Potential problems with testicular prostheses. Urology, 28, 388-390...strengths to maintain structural integrity. The polymers were sterilized in ethylene oxide and placed under sterile conditions until cell delivery...washed in Povidone-iodine 10% solution, and dissected into 2 to 3 mm tissue fragments. Chondrocytes were isolated under sterile conditions using a

  10. Osteonecrosis in patients with testicular tumours treated with chemotherapy.

    OpenAIRE

    Berkmortel, F. van den; Wit, R.; Rooy, J.W.J. de; De Mulder, P. H. M.

    2004-01-01

    The role of antiemetics is invaluable in allowing cancer patients to complete, otherwise possibly intolerable, chemotherapy. In the Perugia Consensus Conference it was decided that the recommended antiemetic regimen in the prevention of acute emesis induced by a single high, low and repeated doses of cisplatin is a serotonin receptor antagonist plus dexamethasone. We describe three testicular cancer patients who were cured with chemotherapy but developed bilateral osteonecrosis of the femoral...

  11. Factors affecting pediatric patient transfer in testicular torsion.

    Science.gov (United States)

    Lodwick, Daniel L; Cooper, Jennifer N; Minneci, Peter C; Deans, Katherine J; McLeod, Daryl

    2016-06-01

    Testicular torsion is a surgical emergency, and interhospital transfer could delay care and increase the risk of orchiectomy. This study identifies factors associated with transfer for pediatric testicular torsion. This retrospective cross-sectional study examined emergency department (ED) visits for testicular torsion by men aged 1-21 y in National Emergency Department Sample from 2006 to 2012. Freestanding children's hospitals were excluded. Analyses were weighted to produce nationally representative estimates. Patient- and institutional-level predictors of transfer were evaluated using Rao-Scott chi-square tests and multivariable logistic regression. There were 11,435 ED visits for testicular torsion resulting in admission or transfer. In multivariable regression, the probability of transfer decreased with increasing age but remained higher for patients aged 15-17 y than for those aged 18-21 y (odds ratio [OR] = 1.51, P patients living in zip codes in the highest income quartile (OR = 0.69 versus lowest, P = 0.003) or with listed comorbidities (OR = 0.55, P Transfer was less likely in the Northeast (OR = 0.28 versus Midwest, P Transfer was less common with increasing annual pediatric ED volume (OR = 0.95 per 1000 patients, P Transfer rates increased significantly over the study period (23.6%-38.8%, P transferred than young adults. Interhospital transfers in these patients may represent a potential target for improving care. Future work should focus on evaluating the effect of transfer on the risk for undergoing orchiectomy. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Identification of Stem Leydig Cells Derived from Pig Testicular Interstitium

    OpenAIRE

    Shuai Yu; Pengfei Zhang; Wuzi Dong; Wenxian Zeng; Chuanying Pan

    2017-01-01

    Stem Leydig cells (SLCs), located in the testicular interstitial compartment in the mammalian testes, are capable of differentiating to testosterone-synthesizing Leydig cells (LCs), thus providing a new strategy for treating testosterone deficiency. However, no previous reports have identified and cultured SLCs derived from the pig. The aim of the current study was to isolate, identify, and culture SLCs from pigs. Haematoxylin and eosin staining and immunochemical analysis showed that SLCs we...

  13. Stage 1 testicular seminoma; Seminomes testiculaire de stade 1

    Energy Technology Data Exchange (ETDEWEB)

    Gross, E.; Champetier, C.; Zaccariotto, A.; Duberge, T. [Departement de radiotherapie, hopital de la Timone, 13 - Marseille (France); Pointreau, Y. [Service de radiotherapie, centre regional universitaire de cancerologie Henry-S.-Kaplan CHU de Tours, Hpital Bretonneau, 37 - Tours (France); Chauvet, B. [Institut Sainte-Catherine, 84 - Avignon (France)

    2010-07-01

    Testicular cancer is rare, representing only 1 % of malignant tumors, but the most common cancer in young men, 15 to 35 years. Adjuvant radiotherapy after orchidectomy in testicular seminoma stage I, reduces risk of relapse. It aims to eradicate micro-metastatic disease in lymph drainage territories. In the case of adjuvant radiotherapy, the relapse-free survival of 96 % with an overall survival of 98 % at 5 years. The irradiation volume is made up of lymph nodes paraaortic which it is possible to add the ipsilateral renal hilum to the testicular lesion. The current recommended dose is 20 Gy in 10 fractions and 2 weeks, usually delivered by two antero-posterior beams. The acute toxicities, mainly represented by nausea and diarrhea are usually quickly resolved to the end of irradiation. Regarding toxicities long-term, preservation of semen should be considered after surgery because of fear of infertility post-treatment. The risk of second cancer associated with exposure to ionizing radiation, albeit small, is especially important to consider these patients to significant life expectancy. Nevertheless, developments in radiotherapy techniques and lower doses and irradiated volumes can probably reduce this risk further. (authors)

  14. Serum Levels of Trace Elements in Patients with Testicular Cancers

    Science.gov (United States)

    Kaba, Mehmet; Pirinççi, Necip; Yüksel, Mehmet Bilgehan; Geçit, İlhan; Güneş, Mustafa; Demir, Murat; Akkoyun, HurremTuran; Demir, Halit

    2015-01-01

    ABSTRACT Introduction: Trace elements are primary components of biological structures; however, they can be toxic when their concentrations are higher than those needed for biological functions. Materials and Methods: In the present study serum levels of trace elements were measured in 30 patients (mean age was 26.9±11.2 years) newly diagnosed with germ cell testicular cancer and 32 healthy volunteers (mean age: 27.4±10.8) by using furnace atomic absorption spectrophotometer. Serum samples were stored at-20°C until assays. Results: In patients with germ cell testicular cancer, the diagnosis was seminoma in 15, mix germ cell tumor in 7, embryonal carcinoma in 4, yolk sac tumor in 2 and teratoma in 2 patients. There was stage I testicular tumor in 19 patients (63.3%) while stage II in 6 patients (20.0%), stage IIIA in 4 patients (13.3%) and stage IIIC in one patient (3.4%). It was found that serum Co, Cu, Mg and Pb levels were increased (ptrace elements. PMID:26742967

  15. Multiple vascular anomalies involving renal, testicular and suprarenal arteries

    Directory of Open Access Journals (Sweden)

    Suresh Rao

    2015-09-01

    Full Text Available Knowledge of variations of blood vessels of the abdomen is important during operative, diagnostic and endovascular pro- cedures. During routine dissection of the abdominal cavity, we came across multiple vascular anomalies involving renal, suprarenal and testicular arteries. The left kidney was supplied by two renal arteries originating together from the abdomi- nal aorta, and the right kidney was supplied by two accessory renal arteries, one of which was arising from the right renal artery and the other one from the aorta (about 2 inches below the origin of the renal artery. Accessory renal veins were present on both sides. The right testicular artery was arising from the lower accessory renal artery. The left testicular artery was looping around the inferior tributary of the left renal vein, whereby forming a sharp kink. The left middle suprarenal artery was diving into three small branches; the upper two branches were supplying the left suprarenal gland, whereas the lower branch was supplying the left kidney. Furthermore, detailed literature and the clinical and surgical importance of the case are discussed. [Arch Clin Exp Surg 2015; 4(3.000: 168-171

  16. Malpractice Litigation and Testicular Torsion: A Legal Database Review.

    Science.gov (United States)

    Colaco, Marc; Heavner, Matthew; Sunaryo, Peter; Terlecki, Ryan

    2015-12-01

    The litigious nature of the American medical environment is a major concern for physicians, with an estimated annual cost of $10 billion. The purpose of this study is to identify causes of litigation in cases of testicular torsion and what factors contribute to verdicts or settlements resulting in indemnity payments. Publicly available jury verdict reports were retrieved from the Westlaw legal database (Thomson Reuters, New York, NY). In order to identify pertinent cases, we used the search terms "medical malpractice" and "testicular torsion" with date ranging from 2000 to 2013. Jury verdicts, depositions, and narrative summaries were evaluated for their medical basis, alleged malpractice, findings, and indemnity payment(s) (if any). Fifty-two cases were identified that were relevant to this study. Fifty-one percent of relevant cases were found in favor of the defendant physician, with the remaining 49% involving an indemnity payment (13% of which were settled). The most commonly sued medical providers were emergency physicians (48% of defendants), with urologists being second most common and making up 23% of the defendant pool. Emergency physicians were significantly more likely to make indemnity payments than urologists. Testicular torsion is a delicate condition and requires expertise in evaluation and treatment. When emergency physicians choose not to consult an urologist for possible torsion, they leave themselves open to litigation risk. When an urologist is involved in torsion litigation, they are rarely unsuccessful in their defense. Finally, ultrasound is no guarantee for success against litigation. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Compromised Rat Testicular Antioxidant Defence System by Hypothyroidism before Puberty

    Directory of Open Access Journals (Sweden)

    Dipak K. Sahoo

    2012-01-01

    Full Text Available Altered thyroid function during early stages of development is known to affect adversely testicular growth, physiology, and antioxidant defence status at adulthood. The objective of the present study is to investigate the modulation of antioxidant defence status in neonatal persistent hypothyroid rats before their sexual maturation and also to identify the specific testicular cell populations vulnerable to degeneration during neonatal hypothyroidism in immature rats. Hypothyroidism was induced in neonates by feeding the lactating mother with 0.05% 6-n-propyl-2-thiouracil (PTU through the drinking water. From the day of parturition till weaning (25 day postpartum, the pups received PTU through mother's milk (or drinking water and then directly from drinking water containing PTU for the remaining period of experimentation. On the 31st day postpartum, the animals were sacrificed for the study. An altered antioxidant defence system marked by elevated SOD, CAT, and GR activities, with decreased GPx and GST activities were observed along with increased protein carbonylation, disturbed redox status in hypothyroid immature rat testis. This compromised testicular antioxidant status might have contributed to poor growth and development by affecting the spermatogenesis and steroidogenesis in rats before puberty as indicated by reduced germ cell number, complete absence of round spermatids, decreased seminiferous tubule diameter, and decreased testosterone level.

  18. Identification of Stem Leydig Cells Derived from Pig Testicular Interstitium

    Directory of Open Access Journals (Sweden)

    Shuai Yu

    2017-01-01

    Full Text Available Stem Leydig cells (SLCs, located in the testicular interstitial compartment in the mammalian testes, are capable of differentiating to testosterone-synthesizing Leydig cells (LCs, thus providing a new strategy for treating testosterone deficiency. However, no previous reports have identified and cultured SLCs derived from the pig. The aim of the current study was to isolate, identify, and culture SLCs from pigs. Haematoxylin and eosin staining and immunochemical analysis showed that SLCs were present and that PDGFRα was mainly expressed in the pig testicular interstitium, indicating that PDGFRα was a marker for SLCs in the neonatal pig. In addition, reverse transcription-PCR results showed that SLC markers were expressed in primary isolated LCs, indicating that they were putative SLCs. The putative SLCs were subsequently cultured with a testicular fluid of piglets (pTF medium. Clones formed after 7 days and the cells expressed PDGFRα. However, no clones grew in the absence of pTF, but the cells expressed CYP17A1, indicating that pTF could sustain the features of porcine SLCs. To summarize, we isolated porcine SLCs and identified their basic characteristics. Taken together, these results may help lay the foundation for research in the clinical application of porcine SLCs.

  19. Primary testicular plasmocytoma: A five year follow-up

    Directory of Open Access Journals (Sweden)

    Milton Ghirelli Filho

    2013-01-01

    Full Text Available The testicular plasmocytoma represents only 5% of the non-germinative cell testicular tumors, and accounts for only 2% of all plasma cell neoplasms. Approximately, 50 cases of testicular plasmocytoma have been reported in medical literature; however, only 9 of these are isolated tumors without previous history or progression to multiple myeloma. A 47-year-old patient, presenting progressive and painless growth of the right testicle in the last four years, underwent surgical treatment in another hospital two years ago, to correct a hydrocele in the same testicle with no improvement at all. Sonography showed a tumor with the following measurements for the right testicle: 84 × 59 × 80 mm. The tumor marker values were all normal. An abdominal computed tomography found no evidence of retroperitoneal lymph nodes invasion. The patient underwent a right radical orchiectomy. Pathologic analysis revealed a malignant neoplasia described as a plasmocytoma (solitary myeloma that produces immunoglobulin′s kappa light chain. After five years of follow-up, there were no signs of metastasis or local recurrence in the exams. Case report and review of literature have been presented here.

  20. A RARE CASE OF AXENFELD-RIEGER SYNDROME

    Directory of Open Access Journals (Sweden)

    Priyadarshini

    2015-11-01

    Full Text Available Axenfeld-Rieger syndrome is an uncommon autosomal dominant condition characterized by anterior segment dysgenesis and systemic abnormalities. We report a case of Axenfeld Rieger syndrome associated with secondary developmental glaucoma who remained undiagnosed since childhood. Twenty-one year old male patient presented with progressive dimness of vision and coloured halos. Slit lamp examination showed scleral thinning and megalocornea in both the eyes and iris hypoplasia in the right eye only. Posterior embryotoxon, few tissue bands, high insertion of the iris roots and anterior synechiae were seen on gonioscopy. Intraocular pressure was 32mmHg in the right eye and 38mmHg in the left eye. Glaucomatous disc changes were observed in both eyes on fundus examination. Systemic features such as maxillary hypoplasia, oligodontia, microdontia, taurodontism, micrognathia and redundant periumbilical skin were observed.

  1. Influence of Vitamin C and Vitamin E on testicular zinc content and testicular toxicity in lead exposed albino rats.

    Science.gov (United States)

    Ayinde, Oluseyi C; Ogunnowo, Sunday; Ogedegbe, Rita A

    2012-12-14

    Occupational and environmental exposures to lead remain a public health problem as lead alters physiological processes by inducing oxidative stress and mimicking divalent cations. This study was designed to investigate the effects of Vitamin C (VC) and Vitamin E (VE) on the reproductive function of lead exposed male rats. Experimental animals were exposed to oral doses of lead, VC and VE at 60 mg/kg body weight, 40 mg/kg body weight, and 150 mg/kg body weight respectively, while control animals received 0.9% saline solution. Oral administration spanned for six weeks after which changes in testicular redox status, lead deposition, testicular zinc content, serum androgen content, semen quality and testis histology were examined. There were significant (p animals was also observed. Fluctuations were observed in androgen levels of lead treated animals with a significant increase (p < 0.05) in Serum follicle stimulating hormone (FSH) and testosterone (TT) content, while there was no significant change in luteinizing hormone (LH) content. Testicular tissue showed an alteration in its normal histology with degeneration of the seminiferous epithelium accompanied by a significant reduction (p < 0.05) in the number of luminal spermatozoa. A downgrade in the semen appearance and semen quality -sperm motility, morphology, and count was also observed after lead exposure. VC and VE treatment showed a significant (p < 0.05) reversal of the physiological alteration induced by lead. Lead exposure resulted in a decline in the reproductive function of male rats by inducing oxidative stress, inhibiting enzymes and depleting testicular zinc contents. However, results clearly showed that VC and VE attenuated the deleterious impact of lead on the reproductive system.

  2. Factors associated with testicular self-examination among unaffected men from multiple-case testicular cancer families

    Directory of Open Access Journals (Sweden)

    Vadaparampil Susan T

    2009-05-01

    Full Text Available Abstract Background The lifetime testicular cancer (TC risk in the general population is relatively low (~1 in 250, but men with a family history of TC are at 4 to 9 times greater risk than those without. Some health and professional organizations recommend consideration of testicular self-examination (TSE for certain high-risk groups (e.g. men with a family history of TC. Yet little is known about factors associated with TSE behaviors in this at-risk group. Methods We collected information on this subject during an on-going NCI multidisciplinary, etiologically-focused, cross-sectional Familial Testicular Cancer (FTC study. We present the first report specifically targeting TSE behaviors among first- and second-degree relatives (n = 99 of affected men from families with ≥ 2 TC cases. Demographic, medical, knowledge, health belief, and psychological factors consistent with the Health Belief Model (HBM were evaluated as variables related to TSE behavior, using chi-square tests of association for categorical variables, and t-tests for continuous variables. Results For men in our sample, 46% (n = 46 reported performing TSE regularly and 51% (n = 50 reported not regularly performing TSE. Factors associated (p Conclusion The findings suggest that, even in this high-risk setting, TSE practices are sub-optimal. Our data provide a basis for further exploring psychosocial issues that are specific to men with a family history of TC, and formulating intervention strategies aimed at improving adherence to TSE guidelines.

  3. Dysgenesis of the corpus callosum and associated malformaaation{sup :} computed tomography and magnetic resonance imaging findings; Disgenesia do corpo caloso e mas-formacoes associadas: achados de tomografia computadorizada e ressonancia magnetica

    Energy Technology Data Exchange (ETDEWEB)

    Montandon, Cristiano; Montandon Junior, Marcelo Eustaquio [Colegio Brasileiro de Radiologia e Diagnostico por Imagem (CBR), Sao Paulo, SP (Brazil); Ribeiro, Flavia Aparecida de Sousa; Lobo, Leonardo Valadares Barbosa; Teixeira, Kim-Ir-Sen Santos [Goias Univ., Goiania (Brazil). Hospital de Clinicas. Dept. de Diagnostico por Imagem e Anatomia Patologica]. E-mail: cabeca2@terra.com.br

    2003-10-01

    Callosal dysgenesis is a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. We reviewed the computed tomography and magnetic resonance imaging findings of 11 patients with callosal dysgenesis and one patient with normal corpus callosum associated with a lipoma. The patients were divided into three distinct groups: total agenesis (three patients), partial agenesis (six patients) and hypoplasia (two patients). Associated abnormalities were observed in nine patients, including Chiari II malformation (one patient), schizencephaly (one patient), interhemispheric cyst (two patients), Dandy-Walker cyst (one patient), nodular heterotopy (one patient) and lipoma of the corpus callosum (four patients). This paper presents a review that may contribute to the diagnosis of these disorders. (author)

  4. Disease: H00609 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available s causes includes persistent Mullerian duct syndrome, hypospadias, and cryptorchidism. During embryogenesis,...S ... Thorup J, McLachlan R, Cortes D, Nation TR, Balic A, Southwell BR, Hutson JM ... TITLE ... What is new in cryptorchidism and hyposp...adias--a critical review on the testicular dysgenesis hypothesis. ... JOURNAL ... J Pediatr Surg 45:2074-86 (2010) DOI:10.1016/j.jpedsurg.2010.07.030

  5. Female with 46, XY karyotype.

    Science.gov (United States)

    Jung, Eun Jung; Im, Do Hwa; Park, Yong Hee; Byun, Jung Mi; Kim, Young Nam; Jeong, Dae Hoon; Sung, Moon Su; Kim, Ki Tae; An, Hyo Jung; Jung, Soo Jin; Lee, Kyung Bok

    2017-07-01

    Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.

  6. AZFa protein DDX3Y is differentially expressed in human male germ cells during development and in testicular tumours

    DEFF Research Database (Denmark)

    Gueler, B; Sonne, S B; Zimmer, J

    2012-01-01

    BACKGROUNDDDX3Y (DBY), located within AZoospermia Factor a (AZFa) region of the human Y chromosome (Yq11), encodes a conserved DEAD-box RNA helicase expressed only in germ cells and with a putative function at G1-S phase of the cell cycle. Deletion of AZFa results most often in germ cell aplasia, i.......e. Sertoli-cell-only syndrome. To investigate the function of DDX3Y during human spermatogenesis, we examined its expression during development and maturation of the testis and in several types of testicular germ cell tumours (TGCTs), including the pre-invasive carcinoma in situ (CIS) precursor cells which......, but not in somatically differentiated non-seminomas, consistent with its germ-cell specific function.CONCLUSIONSThe fetal germ cell DDX3Y expression suggests a role in early spermatogonial proliferation and implies that, in men with AZFa deletion, germ cell depletion may begin prenatally. The strong expression of DDX3Y...

  7. File list: InP.Gon.50.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available InP.Gon.50.AllAg.Testicular_somatic_cells mm9 Input control Gonad Testicular somatic... cells SRX591728,SRX591716 http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/InP.Gon.50.AllAg.Testicular_somatic_cells.bed ...

  8. New reference charts for testicular volume in Dutch children and adolescents allow the calculation of standard deviation scores

    NARCIS (Netherlands)

    Joustra, S.D.; Plas, E.M. van der; Goede, J.; Oostdijk, W.; Delemarre-van de Waal, H.A.; Hack, W.W.M.; Buuren, S. van; Wit, J.M.

    2015-01-01

    Aim Accurate calculations of testicular volume standard deviation (SD) scores are not currently available. We constructed LMS-smoothed age-reference charts for testicular volume in healthy boys. Methods The LMS method was used to calculate reference data, based on testicular volumes from

  9. File list: InP.Gon.10.AllAg.Testicular_somatic_cells [Chip-atlas[Archive

    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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    Lifescience Database Archive (English)

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