Results 71 to 80 of about 21,834 (238)

Female form of persistent mullerian duct syndrome: Rare entity

Urology Annals, 2015
Persistent Mullerian duct syndrome (PMDS) is a rare form of Disorder of sex development in which Mullerian duct derivatives (fallopian tubes, uterus and the proximal vagina) are present in an otherwise normally differentiated 46 XY male.
Shailesh Solanki, Gowrishankar, Vinay Jadhav, M Narendra Babu, S Ramesh   +4 more
doaj   +1 more source

Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells article [PDF]

, 2018
The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at puberty.
Aksglaede, Lise, Almstrup, Kristian, Belling, Kirstine G., Brunak, Søren, Dalgaard, Marlene Danner, Jensen, Jacob Malte, Juul, Anders, Nielsen, John Erik, Rajpert-De Meyts, Ewa, Schierup, Mikkel Heide, Skakkebæk, Niels Erik, Winge, Sofia Boeg   +11 more
core   +2 more sources

Early Outcomes After Total Arch Replacement With Frozen Elephant Trunk in Elderly Patients With Acute Type A Aortic Dissection

AGING MEDICINE, EarlyView.
Across seven centers (2015–2023), we studied 1634 ATAAD patients undergoing TAR+FET and, after propensity matching (n = 699), compared elderly (≥ 60) versus non‐elderly (< 60) outcomes. Elderly patients had higher 30‐day mortality and complications (log‐rank p = 0.002), supporting individualized hybrid strategies, organ‐protective perioperative care ...
Jiajun Liang, Yuan Xue, Yeting Lou, Hao Han, Xiaohan Zhong, Zhou Liu, Tianxu Han, Meili Wang, Wenjian Jiang, Hongjia Zhang, Haiyang Li, Yuanfei Zhao   +11 more
wiley   +1 more source

Metformin enhances external urethral sphincter integrity and restores continence via AMPK activation in a rat model of stress urinary incontinence

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu, Xuhong Li, Alvaro Munoz, Li Jiang, Lihua Huang, Yanhua Zhou, Liping Zhu, Youbo Yang   +7 more
wiley   +1 more source

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya

Clinical Case Reports
Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex.
Christian Omoaghe
doaj   +1 more source

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing

Frontiers in Endocrinology
BackgroundMore than 60% of cases of 46,XY gonadal dysgenesis (GD), a condition classified as a disorder of sex development (DSD), remain unexplained, which is due to high genetic and clinical heterogeneity.
Ning Zhang, Ning Zhang, Ning Zhang, Shuoming You, Shuoming You, Jingjing Guo, Jingjing Guo, Xingyu Chang, Xingyu Chang, Junjun Qiu, Junjun Qiu, Keqin Hua, Keqin Hua   +12 more
doaj   +1 more source

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations

Urology Case Reports, 2022
Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD)
Kiarad Fendereski, John Carey, Kathleen Timme, Katherine Hayes, Jessica Robnett, Anthony Schaeffer   +5 more
doaj   +1 more source

Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development

PLoS ONE, 2013
46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD.To clarify the role of cryptic rearrangements in the development of 46,XY DSD, we performed array-based comparative genomic hybridization analysis for 24 ...
Maki Igarashi, Vu Chi Dung, Erina Suzuki, Shinobu Ida, Mariko Nakacho, Kazuhiko Nakabayashi, Kentaro Mizuno, Yutaro Hayashi, Kenjiro Kohri, Yoshiyuki Kojima, Tsutomu Ogata, Maki Fukami   +11 more
openaire   +4 more sources

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, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Malignant Germ Cell Tumors and Disorders of Sex Development [PDF]

, 2015
__Abstract__ The thesis focuses on selected disorders of sex development (DSD) with an increased risk of gonadal germ cell cancer (GCC) and aims to contribute to the refinement of management of the DSD at risk.
Kaprová-Pleskačová, J. (Jana)
core