scholarly journals GENETIC ASPECTS OF TESTICULAR DYSGENESIS SYNDROME AND ASSOCIATED CONDITIONS

2018 ◽  
Vol 14 (3) ◽  
pp. 92-106
Author(s):  
M. V. Nemtsova ◽  
I. S. Dantsev ◽  
D. S. Mikhaylenko ◽  
O. V. Loran
Keyword(s):  
Germ Cell ◽  
Genetic Factors ◽  
Semen Quality ◽  
Germ Cell Tumors ◽  
Abnormal Development ◽  
Testicular Microlithiasis ◽  
Testicular Germ Cell ◽  
Testicular Dysgenesis Syndrome ◽  
Factors Associated ◽  
Testicular Dysgenesis

Today it is noted that the most cases of the hypospadias, cryptorchidism, testicular microlithiasis, as well as problems of semen quality and testicular germ cell tumours can be a clinical manifestation of testicular dysgenesis syndrome caused by abnormal development of reproductive organs. In the last decade, technological progress in the molecular genetics has made possible to carry out a directed search for genetic factors associated with reproductive disorders in men. In the review we attempted to analyze available literature data on the testicular dysgenesis syndrome and its constituent condition and also to consider the risk factors associated with its development. We give particular attention to the consideration of genetic factors that determine the manifestation of testicular microlithiasis, cryptorchidism and testicular germ cell tumors, both individual clinical conditions and in the syndrome of testicular dysgenesis. Knowledge of the genetic aspects of reproductive damage will allow us to characterize the complex interconnection of the human genome with the clinical phenotype, clarify the role of unfavorable factors of the environment and the lifestyle of the individual, and suggest new approaches to treatment.

scholarly journals Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis

2018 ◽  
Vol 20 (6) ◽  
pp. 593 ◽  
Author(s):  
MarinaV Nemtsova ◽  
IlyaS Dantsev ◽  
EvgeniyV Ivkin ◽  
AlekseyA Tryakin ◽  
DmitriyN Godlevski ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumors ◽  
Testicular Germ Cell Tumors ◽  
Testicular Microlithiasis ◽  
Testicular Germ Cell ◽  
Testicular Dysgenesis

Bilateral Testicular Microlithiasis Predicts the Presence of the Precursor of Testicular Germ Cell Tumors in Subfertile Men

2004 ◽  
Vol 171 (1) ◽  
pp. 158-160 ◽  
Author(s):  
C. A. de GOUVEIA BRAZAO ◽  
F.H. PIERIK ◽  
J.W. OOSTERHUIS ◽  
G.R. DOHLE ◽  
L.H.J. LOOIJENGA ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumors ◽  
Testicular Germ Cell Tumors ◽  
Testicular Microlithiasis ◽  
Testicular Germ Cell

scholarly journals Testicular microlithiasis predicts concurrent testicular germ cell tumors and intratubular germ cell neoplasia of unclassified type in adults

Cancer ◽  
2010 ◽  
Vol 116 (19) ◽  
pp. 4520-4532 ◽  
Author(s):  
Iain B. Tan ◽  
Kai K. Ang ◽  
Boon C. Ching ◽  
Chandra Mohan ◽  
Chee K. Toh ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumors ◽  
Testicular Germ Cell Tumors ◽  
Testicular Microlithiasis ◽  
Testicular Germ Cell ◽  
Intratubular Germ Cell Neoplasia

Prevalence of testicular microlithiasis association with testicular and extragonadal germ cell tumors in a Latin American population.

2012 ◽  
Vol 30 (5_suppl) ◽  
pp. 331-331
Author(s):  
Silvia P. Neciosup ◽  
Jose Quesada ◽  
David Callacondo ◽  
Ivan Aguilar
Keyword(s):  
Germ Cell ◽  
Latin American ◽  
Tertiary Care ◽  
Germ Cell Tumors ◽  
Testicular Tumor ◽  
Testicular Microlithiasis ◽  
Testicular Germ Cell ◽  
History Of ◽  
The Relationship ◽  
Extragonadal Germ Cell Tumors

331 Background: Testicular microlithiasis (TM) is a entity characterized by multiple areas of increased echogenicity on scrotal ultrasonography (U.S.). Studies have reported association between TM and testicular germ cell tumors (TGCT). However, a study assessing the association of TM and extragonadal germ cell tumors (EGCT) has not been performed. Methods: Scrotal U.S. were reviewed in 441 men randomly selected from our computerized database during the period 1998 and 2010 at our tertiary-care cancer hospital. The association of U.S. findings with medical records and a history of germ cell tumors (GCT) were evaluated. The type of tumor was confirmed at histology after surgery or biopsy. Exclusion criteria included age <15 years and history of orchidectomy. Results: The median age was 32 years (range 15 – 88). TM was present in 95 patients (22%) and GCT were found in 130 patients (29%). 105 of these had TGCT (seminoma, n=56 and no seminoma, n=49) and 25 had EGCT (mediastinal, n=16, retroperitoneal, n=6 and CNS, n=3). Concurrent diagnosis of a TGCT was more prevalent in TM patients than in patients without TM (36/95 [38%] versus 69/346[20%] OR 2.45 95% CI 1.49–4.0; p<0.0001) while a diagnosis of an EGCT was present in 13 patients with TM and 12 patient without TM (13/95 [14%] versus 12/346 [3%] OR 4.41 95% CI 1.94–10.03; p<0.0001). No statistical differences were found for histology type. Conclusions: The prevalence in Latin American of TM is higher than previous reports and strongly associated with TCGT and EGCT. The clinical impact of the relationship between EGCT and TM is yet unknown and further studies are needed to clarify its role in the management. We suggest that young high-risk referral patients with TM should undergo scrotal U.S. annually; when a testicular tumor is not evident by U.S., investigations to rule out an EGCT, as thoracic or abdominal CT scans, should be considered individually in each case.

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