Results 41 to 50 of about 18,332 (236)

Prevalence of SRY and DAX-1 gene deletion in patients with Cryptorchidism and Hypospadias – A Pilot study in North Indian Children

Asian Journal of Medical Sciences, 2015
Background: Cryptorchidism and hypospadias are common problems in males attending the pediatric surgery clinic. These two abnormalities are also associated with genetic syndromes/disorders of sexual development (DSD).
Krishna Mohan Gulla
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Cryptorchidism: Causes and Consequences

, 2019
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject.

core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Weak association of anti-sperm antibodies and strong association of familial cryptorchidism/infertility with HLA-DRB1polymorphisms in prepubertal Ukrainian boys

Reproductive Biology and Endocrinology, 2011
Background Cryptorchidism is a frequent syndrome occurring in 1-2% of males within the first year of age. Autoimmune reactions, particularly directed to testicular elements and/or spermatozoa have been found to be often associated with cryptorchidism ...
Chopyak Valentyna, Nowakowska Beata, Kamieniczna Marzena, Havrylyuk Anna, Niepieklo-Miniewska Wanda, Nakonechnyy Andriy, Kurpisz Maciej, Kusnierczyk Piotr   +7 more
doaj   +1 more source

RNA sequencing profiles reveals progressively reduced spermatogenesis with progression in adult cryptorchidism

Frontiers in Endocrinology, 2023
IntroductionThe fertility of cryptorchidism patients who didn’t perform corrective surgery will decrease with age. Herein, we elucidate the histological alterations and underlying molecular mechanism in patients with an increase in the disease duration ...
Weihao Sun, Xinhui Zhang, Lei Wang, Guanyu Ren, Shuguang Piao, Chenghua Yang, Chenghua Yang, Zhiyong Liu, Zhiyong Liu   +8 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Decoding the pathogenesis of spermatogenic failure in cryptorchidism through single-cell transcriptomic profiling

Cell Reports Medicine
Summary: Cryptorchidism, commonly known as undescended testis, affects 1%–9% of male newborns, posing infertility and testis tumor risks. Despite its prevalence, the detailed pathophysiology underlying male infertility within cryptorchidism remains ...
Xiaoyan Wang, Qiang Liu, Ziyan Zhuang, Jianxing Cheng, Wenxiu Zhang, Qiaoling Jiang, Yifei Guo, Ran Li, Xiaojian Lu, Lina Cui, Jiaming Weng, Yanlin Tang, Jingwei Yue, Songzhan Gao, Kai Hong, Jie Qiao, Hui Jiang, Jingtao Guo, Zhe Zhang   +18 more
doaj   +1 more source

Perspective: A Neuro-Hormonal Systems Approach to Understanding the Complexity of Cryptorchidism Susceptibility

Frontiers in Endocrinology, 2018
Nonsyndromic cryptorchidism is a common multifactorial, condition with long-term risks of subfertility and testicular cancer. Revealing the causes of cryptorchidism will likely improve prediction and prevention of adverse outcomes.
Julia S. Barthold, Richard Ivell
doaj   +1 more source