Medullary Sponge Kidney and Testicular Dysgenesis Syndrome: A Rare Association di Stefano Masciovecchio, Pietro Saldutto, Giuseppe Paradiso Galatioto, Carlo Vicentini

“...The work presented is the only one in the scientific literature that shows the association between the medullary sponge kidney and the testicular dysgenesis syndrome. A question still remains unanswered: are the MSK and TDS completely independent malformation syndromes occurring, in this case, simultaneously for a rare event or are they different phenotypic expressions of a common malformative mechanism? ...”
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A case of testicular dysgenesis syndrome with squamous cell carcinoma of the prostate harboring a CDK12 mutation di Yasuaki Murata, Takeo Kosaka, Kohei Nakamura, Yuto Baba, Eri Arai, Yota Yasumizu, Kazuhiro Matsumoto, Hiroshi Nishihara, Mototsugu Oya

Soggetti: Testo

Association between Late Manifestations of Testicular Dysgenesis Syndrome and Anogenital Distance: A Systematic Review and Meta-analysis di Carolina Arissa Tsutida, Ana Carolina Bernard Veiga, Anderson Joel Martino-Andrade, Diancarlos Pereira de Andrade, Rosiane Guetter Mello, Juliane Centeno Müller

“...Background: In 2001, Skakkebæk et al. proposed that certain male reproductive disorders might be grouped into a syndrome called testicular dysgenesis syndrome (TDS), as they all appear to be associated with disruption of the embryonic and foetal programming of gonadal development. ...”
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CHARGE syndrome with both primary and secondary hypogonadism di Yuki Yoshida, Soichiro Ogawa, Satoru Meguro, Akifumi Onagi, Ryo Tanji, Kanako Matsuoka, Seiji Hoshi, Junya Hata, Yuichi Sato, Hidenori Akaihata, Masao Kataoka, Motohide Uemura, Yoshiyuki Kojima

Soggetti: Testo

The Fate of Leydig Cells in Men with Spermatogenic Failure di Daria Adamczewska, Jolanta Słowikowska-Hilczer, Renata Walczak-Jędrzejowska

Soggetti: Testo

The Impact of Bisphenol A on Fertility, Reproductive System, and Development: A Review of the Literature di Ewa Matuszczak, Marta Diana Komarowska, Wojciech Debek, Adam Hermanowicz

“...There is increasing evidence that BPA has impact on human fertility and is responsible for the reproductive pathologies, e.g., testicular dysgenesis syndrome, cryptorchidism, cancers, and decreased fertility in male and follicle loss in female....”
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Using polygenic scores in social science research: Unraveling childlessness di Verweij, RM, Mills, MC, Stulp, G, Nolte, IM, Barban, N, Tropf, FC, Carrell, DT, Aston, KI, Zondervan, KT, Rahmioglu, N, Dalgaard, M, Skaarup, C, Hayes, MG, Dunaif, A, Guo, G, Snieder, H

“...In this study, we explore an innovative sociogenomic approach, which entails including key socio-demographic (marriage, education, occupation, religion, cohort) and genetic factors related to both behavioral [age at first birth (AFB), number of children ever born (NEB)] and biological fecundity-related outcomes (endometriosis, age at menopause and menarche, polycystic ovary syndrome, azoospermia, testicular dysgenesis syndrome) to explain childlessness. We examine the association of all sets of factors with childlessness as well as the interplay between them. ...”

Male Infertility and the Risk of Developing Testicular Cancer: A Critical Contemporary Literature Review di Giuseppe Maiolino, Esaú Fernández-Pascual, Mario Alberto Ochoa Arvizo, Ranjit Vishwakarma, Juan Ignacio Martínez-Salamanca

“...The concept of Testicular Dysgenesis Syndrome provides an explanatory model for the common etiology of MI, TC, cryptorchidism, and hypospadias. ...”
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Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors di Remko Hersmus, Hans Stoop, Stefan J. White, Stenvert L. S. Drop, J. Wolter Oosterhuis, Luca Incrocci, Katja P. Wolffenbuttel, Leendert H. J. Looijenga

“...These cases demonstrate overlap between DSD and the so-called testicular dysgenesis syndrome (TDS), of significant relevance for identification of individuals at increased risk for development of a malignant GCT....”
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Testicular cancer in mice: interplay between stem cells and endocrine insults di Ankita Kaushik, Deepa Bhartiya

“...Neonatal DES exposure affected testicular very small embryonic-like stem cells (VSELs) and spermatogonial stem cells and resulted in infertility, reduced sperm counts and tumor-like changes leading to our postulate that testicular dysgenesis syndrome possibly has a stem cell basis. ...”
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Primary Co-Occurrence of Gonadal and Extragonadal Central Nervous System (CNS) Germ Cell Tumors (GCTs): Case Report and Review of the Literature di Francesco Tengattini, Cesare Francesco Soffiati, Pier Paolo Panciani, Marco Zeppieri, Tamara Ius, Shahan Momjian, Karl Schaller, Marco Maria Fontanella, Lucio De Maria

“...Two out of seven cases (29%) were syndromic, one suffering from Down Syndrome and the other from Testicular Dysgenesis Syndrome. Regarding the etiology and molecular mechanism of GCT development, several gene mutations have been reported in the literature. ...”
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