Results 41 to 50 of about 25,988 (233)
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 +11 more
wiley +1 more source
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
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 +8 more
doaj +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
Cell Reports MedicineSummary: 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 +18 more
doaj +1 more source
The Nature of Disorders in Reproductive System in Unilateral Cryptorchidism [PDF]
Саратовский научно-медицинский журнал, 2009 The objective of the research: assessment of the condition of the reproductive system in patients with unilateral cryptorchidism. Children and teenage boys with unilateral cryptorchidism before surgical treatment, young adult men with surgically treated ...
E.S. Pimenova
doaj
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 +7 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Journal of Animal Reproduction and BiotechnologyBackground: Cryptorchidism is the most common congenital abnormality affecting male reproductive development in dogs. Castration is generally recommended for affected individuals, and many cases are identified incidentally during elective procedures.
Minsu Baek +4 more
doaj +1 more source
Modern competency‐based teaching of human sexual development
Anatomical Sciences Education, EarlyView.Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler +2 more
wiley +1 more source