Results 1 to 10 of about 50,074,769 (205)

Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: Swyer syndrome, or 46, XY complete gonadal dysgenesis, is a disorder of human sexual development which present with female external genitalia, lack of female reproductive organs, and a 46, XY karyotype.
Pei-Hsiu Yu, Meng-Che Tsai, Chun-Ting Chiang, Han-Yu Wang, Pao-Lin Kuo   +4 more
doaj   +2 more sources

THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY [PDF]

Бюллетень сибирской медицины, 2015
Disorders of sex development with Y chromosome material has been associated with a high risk for developing germ cell tumors such as gonadoblastoma or dysgerminoma.
O. Yu. Latyshev, L. N. Samsonova, E. P. Kasatkina, G. F. Okminyan, Ye. V. Kiselyova, Ye. S. Timofeyeva   +5 more
doaj   +3 more sources

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature [PDF]

Acta Medica Lituanica, 2022
Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder
Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas   +4 more
doaj   +2 more sources

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis [PDF]

BMC Medical Genomics
Background The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing.
Cui Li, Binyu Yang, Xu Li, Shuai Zhen, Xiaogang Liu, Pingping Li, Wei Chen, Xiaoyan Wang, Mei Xue   +8 more
doaj   +2 more sources

Clinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review [PDF]

Medicina
Background and Objectives: NR5A1-related 46,XY differences of sex development (DSD) represent a heterogeneous group of conditions characterized by variable degrees of undervirilization, gonadal dysgenesis, and endocrine dysfunction.
Stefania Vicario, Maria Escolino, Giorgia Esposito, Mauro Porcaro, Raffaella Di Mase, Mustafa Azizoglu, Ciro Esposito   +6 more
doaj   +2 more sources

Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies

Frontiers in Pediatrics, 2022
ObjectivesThis retrospective study sought to investigate the risk and proportion of gonadal neoplasms in phenotypic female pediatric patients with DSD and the presence of the Y chromosome and different genetic backgrounds in a single Chinese center ...
Liangsheng Lu, Feihong Luo, Xiang Wang
doaj   +1 more source

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review

Frontiers in Genetics, 2022
Purpose: Patients with syndromic 46, XY disorders/differences of sex development (DSD) are characterized by gonadal and phenotypic genders inconsistent with their chromosomal sexes as well as abnormalities of multiple extragonadal organs. They are caused
Wei Zhang, Jiangfeng Mao, Xi Wang, Bang Sun, Zhiyuan Zhao, Xiaoxia Zhang, Min Nie, Min Nie, Xueyan Wu, Xueyan Wu   +9 more
doaj   +1 more source

MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development

Frontiers in Genetics, 2022
Background: 46,XY disorders/differences of sex development (46,XY DSD) are congenital conditions that result from abnormal gonadal development (gonadal dysgenesis) or abnormalities in androgen synthesis or action.
Hong Chen, Hong Chen, Qingqing Chen, Yilin Zhu, Ke Yuan, Huizhu Li, Bingtao Zhang, Zexiao Jia, Hui Zhou, Mingjie Fan, Yue Qiu, Qianqian Zhuang, Zhaoying Lei, Mengyao Li, Wendong Huang, Li Liang, Qingfeng Yan, Qingfeng Yan, Qingfeng Yan, Chunlin Wang   +19 more
doaj   +1 more source

Dysgerminoma in three patients with Swyer syndrome

World Journal of Surgical Oncology, 2007
Background Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis.
Karimi Zarchi Mojgan, Behtash Nadereh
doaj   +1 more source

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Nature Communications, 2023
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome.
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair   +42 more
doaj   +1 more source