Results 71 to 80 of about 50,074,769 (205)

46, Xy Gonadal Dysgenesis: A Case Report

, 2001
46, XY Gonadal disgenezis female fenotip, seksüel infantilizm, önikoid yapı ve primer amenore şeklinde görülen bir sendromdur. Streak band şeklindeki gonadlardan tümör gelişmesi % 10-30 dur. Plazma ve üriner gonadotropinlerin düzeyleri artmıştır.
Gönen, M. Sait, Mil, Sibel, Sağmanlıgil, Ş. Nur, Güney, İbrahim   +3 more
core  

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis

Molecular Cytogenetics
Background Sexual differentiation and development rely upon many genetic and environmental factors and any disruption of these can lead to Differences/Disorders of Sex Development (DSDs).
Arash Salmaninejad, Zahra Yaghoubi, Tahereh Haghzad, Maryam Latifi, Reza Bayat, Somaye Esnaashari, Setila Dalili   +6 more
doaj   +1 more source

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis

Brazilian Journal of Medical and Biological Research, 2005
The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation.
E.B. Tagliarini, J.G. Assumpção, M.R. Scolfaro, M.P. de Mello, A.T. Maciel-Guerra, G. Guerra Júnior, C. Hackel   +6 more
doaj   +1 more source

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

Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.
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.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +1 more source

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome [PDF]

, 2019
PURPOSE: XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients
Sallai, A, Conway, GS, Bertalan, R, Merel, T, Jauch, R, Nef, S, Bashamboo, A, Buonocore, F, Martinerie, L, Warr, N, Bignon-Topalovic, J, Eozenou, C, Achermann, JC, Le Ru, R, Carel, J-C, Peycelon, M, Greenfield, A, Houzelstein, D, Mignot, B, Brauner, R, Siffroi, J-P, Mazen, I, Leger, J, Tan, DS, Kay, RGG, McElreavey, K, Shcherbak, Y, Jorgensen, A, Globa, E, Van Maldergem, L   +29 more
core   +2 more sources

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism

BMC Pediatrics, 2019
Background The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.
Lili Pan, Zhe Su, Jianming Song, Wanhua Xu, Xia Liu, Longjiang Zhang, Shoulin Li, on behalf of the multidisciplinary collaboration team of DSD management at Shenzhen Children’s Hospital   +7 more
doaj   +1 more source

Advanced‐Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Süleyman Cemil Oğlak, Nilgün Söğütçü, Sedat Akgöl, Özgür Adıgüzel, Hümeyra Elif Ateş Eminoğlu, Gizem Güzel, Veysi Balcı, Emine Acar, Abdullah Acar, Fuat Bozan, Aneek Das Bhowmik   +10 more
wiley   +1 more source

46 XY Gonodal Dysgenesis

, 2012
46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to ...
Akyürek, Nesibe, Eklioğlu, Berkay Selver, Atabek, Mehmet Emre, Arı Yuca, Sevil   +3 more
core  

Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature

JCRPE
Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY disorders of sexual development, is characterized by complete gonadal dysgenesis (CGD) and is mostly ...
Maamoun Adra, Hayato Nakanishi, Eleni Papachristodoulou, Evangelia Karaoli, Petroula Gerasimou, Antri Miltiadous, Katerina Nicolaou, Loizos Loizou, Nicos Skordis   +8 more
doaj   +1 more source

A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family

Human Mutation, Volume 2026, Issue 1, 2026.
Background and Aims MIRAGE syndrome is an autosomal‐dominant genetic disease primarily caused by a de novo mutation in the gene SAMD9 gene. This study is aimed at investigating the pathogenesis of MIRAGE syndrome through a Chinese case exhibiting intrauterine growth retardation and renal hypoplasia.
Yuxin Huang, Jiahui Fu, Zhongzhi Gan, Fu Xiong, Honglei Zhu, Fang Yang, Priya Gusain   +6 more
wiley   +1 more source