Results 21 to 30 of about 26,178 (244)

Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction [PDF]

, 2019
his work was supported by FIS PI16/02057, PI19/00588, PI19/00815, DTS18/00032, REDinREN RD016/0009 Fondos FEDER, ERA-PerMed-JTC2018 (KIDNEY ATTACK AC18/00064 and PERSTIGAN AC18/00071), Sociedad Española de Nefrología, FRIAT, and Comunidad de Madrid B2017/
Fernández Prado, Raúl, Kanbay, Mehmet, Ortiz, Alberto, Pérez Gómez, María Vanessa   +3 more
core   +1 more source

Identification of endocrine-disrupting chemicals targeting the genes and pathways of genital anomalies in males

Ecotoxicology and Environmental Safety, 2022
Hypospadias and cryptorchidism are the most common congenital malformations in male neonates, both of which are also the important clinical manifestations of testicular dysgenesis syndrome and share a same origin.
Xiang Zhou, Xu Zhang, Xuan zhou, Gulinuer Abulimiti, Yichun Wang, Qijie Zhang, Rong Cong, Chengjian Ji, Jiaochen Luan, Liangyu Yao, Jie Yang, Ninghong Song   +11 more
doaj   +1 more source

Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]

, 2013
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed, Ahmed, Ahmed, Ahmed, Akre, Antonio Balsamo, Bangsbøll, Bebermeier, Berger, De Groote, Dolk, Duguid, Feyza Darendeliler, Flück, Gottlieb, Guerrier, Hiort, Hughes, Hughes, Hughes, Ieuan Hughes, Jillian Bryce, Jipu Jiang, Kathryn Cox, Kreidberg, Köhler, Laura Audi, Lidka Lisa, Martina Rodie, Martine Cools, Melià, Miles, Mona Alkhawari, Mona Ellaithi, Morcel, Nabhan, Nils Krone, Nowaczyk, Olaf Hiort, Olle Soder, Ono, Pang, Paul-Martin Holterhus, Peter Wieacker, Porter, Richard Sinnott, S. Faisal Ahmed, Silvano Bertelloni, Stenvert Drop, Sun, Telvi, Thyen, Tokgoz, Tosson, Tulay Guran, Wiebke Arlt, Yang, Yinon, Yves Morel   +58 more
core   +8 more sources

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]

, 2010
Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O, Freisinger, P, Hansikova, H, Honzik, T, Houstek, J, Huemer, M, Jesina, P, Kmoch, S, Koch, J, Kostkova, O, Magner, M, Mayr, JA, Sperl, W, Tesarova, M, Van Coster, Rudy, Zeman, J   +15 more
core   +2 more sources

Severity-Dependent Profile of the Metabolome in Hypospadias

Frontiers in Pediatrics, 2020
Background & Objective: Hypospadias, characterized by the displacement of the opening of the urethra at any point in the medial-ventral side of the penis, is classified upon severity as mild (Type I) and severe (Type II and Type III) hypospadias ...
Coriness Piñeyro-Ruiz, Nataliya E. Chorna, Marcos Raymond Pérez-Brayfield, Juan Carlos Jorge   +3 more
doaj   +1 more source

Parental risk factors associated with hypospadias

Archives of Medicine and Health Sciences, 2013
Introduction: Hypospadias is one of the most common congenital anomalies of male external genitalia. It occurs in approximately 1 in 250 newborn. Hypospadias can be defined as an abnormal urethral orifice under surface of the penis with or without ...
Bindhu Suma Shekar, Ramakrishna Avadhani
doaj   +1 more source

Association between perinatal factors and hypospadias in newborns: a retrospective case–control study of 42,244 male infants

BMC Pregnancy and Childbirth, 2022
Background Hypospadias is one of the most common male congenital malformations worldwide. It is characterised by the abnormal positioning of the opening of urethra, and may lead to problems with urination and sexual function.
Yi Wang, Lin Wang, Zeyong Yang, Fang Chen, Zhiwei Liu, Zheng Tang   +5 more
doaj   +1 more source

Can Testosterone Alter the Degree of Hypospadias? A Comprehensive Study

Journal of Indian Association of Pediatric Surgeons, 2021
Context: In this study, we observed using serial injections of parenteral testosterone whether we can alter the degree of hypospadias. Aims: The aim was to study the effect of testosterone on different parts of the phallus in hypospadias and to see if we
Dasmit Singh Khokar, Ravi Vadilal Patel
doaj   +1 more source

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source

Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias

Molecular Genetics & Genomic Medicine, 2020
Background The aberrant expression of genes involved in androgen metabolism and genetic contribution are unclear in hypospadias. Methods We compared gene expression profiles by RNA sequencing from five non‐hypospadiac foreskins, five mild hypospadiac ...
Zhongzhong Chen, Xiaoling Lin, Yaping Wang, Hua Xie, Fang Chen   +4 more
doaj   +1 more source