Results 91 to 100 of about 33,046 (258)
Indonesian Biomedical JournalBACKGROUND: Hypospadias, a congenital birth defect in male, is the opening of the urethra located on the ventral side of the penis. Several mutations in SRD5A2 encoding steroid 5 alpha-reductase type 2 protein have been identified in hypospadias and ...
Rizki Diposarosa +3 more
doaj +1 more source
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]
, 1996 Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan +14 more
core +1 more source
Pediatric Anesthesia, EarlyView.ABSTRACT Background Pediatric patients undergoing general anesthesia often face stress responses, anesthetic challenges, and delayed recovery. Virtual reality has emerged as a promising non‐pharmacological intervention, though its effectiveness varies across studies. This meta‐analysis evaluates the effects of preoperative virtual reality interventions
Difang Zhao, Ting Tian, Shuguang Jin
wiley +1 more source
Germ cell and other tumors in individuals with differences in sex development
CA: A Cancer Journal for Clinicians, EarlyView.Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel +1 more
wiley +1 more source
Long-term outcomes of pediatric hypospadias and surgical intervention
Pediatric Health, Medicine and Therapeutics, 2012 Gunter De Win,1,2 Peter Cuckow,3 Piet Hoebeke,4 Dan Wood21Adolescent and Pediatric Urology, University Hospital, Antwerp, Belgium; 2Adolescent Urology, University College London Hospitals, UK; 3Pediatric Urology, Great Ormond Street Hospital for Sick ...
De Win G, Cuckow P, Hoebeke P, Wood D
doaj
Asian Journal of Andrology, 2018 Previous genome-wide association studies have identified variants in the diacylglycerol kinase kappa (DGKK) gene associated with hypospadias in populations of European descent. However, no variants of DGKK were confirmed to be associated with hypospadias
Hua Xie +9 more
doaj +1 more source
Canalization of the Vestibular Plate in the Absence of Urethral Fusion Characterizes Development of the Human Clitoris: The Single Zipper Hypothesis. [PDF]
, 2016 PurposeWe characterized the early gestation development of the female external genitalia using optical projection tomography to visualize anatomical structures at high resolution.Materials and methodsFirst and early second trimester human female fetal ...
Baskin, Laurence +8 more
core +2 more sources
The Prostate, Volume 85, Issue 11, Page 1000-1004, August 2025.ABSTRACT Background Congenital urological malformations encompass a wide range of anomalies affecting the urinary tract and reproductive organs. MRI has emerged as a diagnostic tool in identifying these conditions. Prostatic utricle is an enlarged diverticulum in the posterior urethra, which results from incomplete degradation of the Müllerian ducts or
Tomer Bashi +6 more
wiley +1 more source
Phenotype-specific association of the TGFBR3 locus with nonsyndromic cryptorchidism [PDF]
, 2015 PURPOSE: Based on a genome-wide association study of testicular dysgenesis syndrome showing a possible association with TGFBR3, we analyzed data from a larger, phenotypically restricted cryptorchidism population for potential replication of this signal.
Abrams, D +18 more
core +1 more source
Clinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò +57 more
wiley +1 more source