Results 61 to 70 of about 25,988 (233)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Hypogonadism and Cryptorchidism

Frontiers in Endocrinology, 2020
Congenital cryptorchidism (undescended testis) is one of the most common congenital urogenital malformations in boys. Prevalence of cryptorchidism at birth among boys born with normal birth weight ranges from 1.8 to 8.4%.
Wiwat Rodprasert, Wiwat Rodprasert, Helena E. Virtanen, Helena E. Virtanen, Juho-Antti Mäkelä, Juho-Antti Mäkelä, Jorma Toppari, Jorma Toppari, Jorma Toppari   +8 more
doaj   +1 more source

Cryptorchidism in the orl rat is associated with muscle patterning defects in the fetal gubernaculum and altered hormonal signaling [PDF]

, 2014
Cryptorchidism, or undescended testis, is a common male genital anomaly of unclear etiology. Hormonal stimulation of the developing fetal gubernaculum by testicular androgens and insulin-like 3 (INSL3) is required for testicular descent.
Abigail Mateson, Alan Robbins, Joan Pugarelli, Julia S. Barthold, Rat Genome Database Web Site, Medical College of Wisconsin, Milwaukee, WI, Ravinder Anand-Ivell, Richard Ivell, Robert E. Akins, Suzanne M. McCahan, Yanping Wang   +9 more
core   +1 more source

Testicular histopathology and its association with germ cell numbers, serum concentrations of reproductive hormones, and semen quality

Andrology, EarlyView.
Abstract Background It is well‐established that spermatogenesis, semen quality, and reproductive hormones are interlinked. It is, however, less well‐described how various specific testicular histopathologies are linked to reproductive hormones and semen quality.
Gülizar Saritas, Nina Mørup, Trine H. Johannsen, Anders Juul, Lise Aksglaede, Sofia B. Winge, Kristian Almstrup   +6 more
wiley   +1 more source

Testicular neoplasia in undescended testes of cryptorchid boys-does surgical strategy have an impact on the risk of invasive testicular neoplasia?

The Turkish Journal of Pediatrics, 2004
We investigated whether or not surgical strategy has an impact on the risk of invasive testicular neoplasia in cases of cryptorchidism. We made a database study of the incidence of testicular neoplasia at surgery for cryptorchidism in childhood ...
Dina Cortes, Jorgen Thorup, Bodil Laub Petersen   +2 more
doaj  

Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network

Frontiers in Endocrinology, 2018
Background: Cryptorchidism is one of the most frequent congenital birth defects in male children and is present in 2–4% of full-term male births. It has several possible health effects including reduced fertility, increased risk for testicular neoplasia,
Kristian Urh, Živa Kolenc, Maj Hrovat, Luka Svet, Peter Dovč, Tanja Kunej   +5 more
doaj   +1 more source

Semen quality in patients with testicular cancer is associated with age and with greatly elevated levels of beta human chorionic gonadotropin

Andrology, EarlyView.
Abstract Background Poor semen quality is a well‐known feature in patients with testicular germ cell tumours (GCTs) at the time of diagnosis but the underlying biological reasons are incompletely understood. Objectives This study aimed to identify GCT‐specific clinical factors that are involved with poor semen quality in GCT patients.
Klaus‐Peter Dieckmann, Johanna Hochmuth‐Tisch, Andrea Salzbrunn, Cord Matthies, Kathrein von Kopylow, Marta Godlewska, Christian Wülfing, Uwe Pichlmeier, Armin Soave, Christian Guido Ruf   +9 more
wiley   +1 more source

miR-34c disrupts spermatogonial stem cell homeostasis in cryptorchid testes by targeting Nanos2

Reproductive Biology and Endocrinology, 2018
Background Cryptorchidism as a common genitourinary malformation with the serious complication of male infertility draws widespread attention. With several reported miRNAs playing critical roles in spermatogonial stem cells (SSCs), we aimed to explore ...
Zhenyu Huang, Dongdong Tang, Jingjing Gao, Xianming Dou, Peng Cheng, Dangwei Peng, Yao Zhang, Jun Mao, Li Zhang, Xiansheng Zhang   +9 more
doaj   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

Risk of cryptorchidism and hypospadias among boys of maternal hairdressers – a Danish population-based cohort study

Scandinavian Journal of Work, Environment & Health, 2013
OBJECTIVES: Pregnant hairdressers may be exposed to a mixture of chemicals in their working environment. The possible relationship between these chemical agents and male reproductive tract malformations has raised concern that the working environment of ...
Kristian Tore Jørgensen, Morten Søndergaard Jensen, Gunnar Vase Toft, Ann Dyreborg Larsen, Jens Peter Bonde, Karin Sørig Hougaard   +5 more
doaj   +1 more source