Results 11 to 20 of about 12,853 (226)

Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report. [PDF]

Clin Case Rep, 2022
Ashraf Ganjooei T, Pirastehfar Z, Mosallanejad A, Raoufi M, Afshar Moghaddam N, Hashemieh M.   +5 more
europepmc   +2 more sources

Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis. [PDF]

Reprod Biol Endocrinol
Ding L, Deng S, Zhang P, Zhang D, Tian Q.   +4 more
europepmc   +3 more sources

46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review. [PDF]

Int J Mol Sci
Correa Brito L, Suco S, Casali B, Villegas F, Scaglia P, Izquierdo A, Lopez Dacal J, Podestá M, Medin M, Grinspon RP, Ropelato MG, Rey RA.   +11 more
europepmc   +2 more sources

Gonadal Dysgenesis [PDF]

, 2020
National Cancer Institute
  +4 more sources

Pure Gonadal Dysgenesis [PDF]

Proceedings of the Royal Society of Medicine, 1970
I S Trethewey
openalex   +3 more sources

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches. [PDF]

Clin Endocrinol (Oxf)
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Giri D, Yewale S, Hickingbotham H, Williams C, Shalaby M, Alderson J, Park J.   +6 more
europepmc   +2 more sources

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis. [PDF]

Mol Cytogenet
Salmaninejad A, Yaghoubi Z, Haghzad T, Latifi M, Bayat R, Esnaashari S, Dalili S.   +6 more
europepmc   +3 more sources

STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis. [PDF]

Int J Mol Sci
Sirokha D, Rayevsky A, Kalynovskyi V, Khalangot M, Samson O, Gorodna O, Kwiatkowska K, Mayere C, Lemanska Z, Kunik A, Nef S, Kusz-Zamelczyk K, Livshits L.   +12 more
europepmc   +3 more sources

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   +10 more sources

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   +1 more source