Works matching Gonadal dysgenesis

Results: 1177

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.

Published in:

Clinical Genetics, 2022, v. 101, n. 2, p. 221, doi. 10.1111/cge.14086

By:

Altunoglu, Umut;
Börklü, Esra;
Shukla, Anju;
Escande‐Beillard, Nathalie;
Ledig, Susanne;
Azaklı, Hülya;
Nayak, Shalini S.;
Eraslan, Serpil;
Girisha, Katta Mohan;
Kennerknecht, Ingo;
Kayserili, Hülya

Publication type:

Article

State of the art review in gonadal dysgenesis: challenges in diagnosis and management.

Published in:

International Journal of Pediatric Endocrinology, 2014, v. 2014, n. 1, p. 1, doi. 10.1186/1687-9856-2014-4

By:

McCann-Crosby, Bonnie;
Mansouri, Roshanak;
Dietrich, Jennifer E.;
McCullough, Laurence B.;
Sutton, V. Reid;
Austin, Elise G.;
Schlomer, Bruce;
Roth, David R.;
Karaviti, Lefkothea;
Gunn, Sheila;
Hicks, M. John;
Macias, Charles G.

Publication type:

Article

Mayer‐Rokitansky‐Küster‐Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female.

Published in:

Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 7, p. 1386, doi. 10.1111/jog.13956

By:

Ono, Ayumi;
Iijma, Tomoko;
Katayama, Motoko;
Iura, Ayaka;
Hirao, Nobumaru;
Kisu, Iori

Publication type:

Article

Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis.

Published in:

Pediatric & Developmental Pathology, 2011, v. 14, n. 6, p. 445, doi. 10.2350/11-01-0960-OA.1

By:

Bergeron, Mélanie Beaulieu;
Lemieux, Nicole;
Brochu, Pierre

Publication type:

Article

New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.

Published in:

Neurological Sciences, 2023, v. 44, n. 10, p. 3691, doi. 10.1007/s10072-023-06792-y

By:

Brito, Lara Albuquerque;
Nóbrega, Paulo Ribeiro;
Dias, Daniel Aguiar;
Barreto, André Rodrigues Façanha;
Freitas, Hermany Capistrano;
Kok, Fernando;
Rodrigues, Cleonisio Leite

Publication type:

Article

Mullerian remnants presenting as a pelvic cyst in a young adult with 45X0/46XY mixed gonadal dysgenesis.

Published in:

Urology Annals, 2021, v. 13, n. 1, p. 76, doi. 10.4103/UA.UA_91_20

By:

Ravirajendran, Samson;
Palaniyandi, Velmurugan;
Arora, Anuj;
Ramanan, Venkat;
Kumaresan, Natarajan

Publication type:

Article

Disgenesia gonadal completa 46,XY o síndrome de Swyer: reporte de un caso.

Published in:

Ginecología y Obstetricia de México, 2022, v. 90, n. 12, p. 995, doi. 10.24245/gom.v90i12.3901

By:

Añorve-Vargas, Alexis;
Pérez-López, José del Carmen;
MandujanoÁlvarez, Gabriel Juan;
Domínguez-Morales, Ever;
Contreras-Albavera, Elfego Octavio

Publication type:

Article

Hormonal and cytogenetic studies in phenotypically female patients with gonadal dysgenesis.

Published in:

1981

By:

Muechler, Eberhard K.;
Cary, Donna;
Friedrich, Mary Anna;
Doherty, Richard A.;
Donaldson, Catherine H.;
Bonfiglio, Thomas;
Muechler, E K;
Cary, D;
Friedrich, M A;
Doherty, R A;
Donaldson, C H;
Bonfiglio, T

Publication type:

journal article

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 494, doi. 10.3390/ijms24010494

By:

Francese-Santos, Ana Paula;
Meinel, Jakob A.;
Piveta, Cristiane S. C.;
Andrade, Juliana G. R.;
Barros, Beatriz A.;
Fabbri-Scallet, Helena;
Gil-da-Silva-Lopes, Vera Lúcia;
Guerra-Junior, Gil;
Künstner, Axel;
Busch, Hauke;
Hiort, Olaf;
de Mello, Maricilda P.;
Werner, Ralf;
Maciel-Guerra, Andréa T.

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.871328

By:

Zhang, Wei;
Mao, Jiangfeng;
Wang, Xi;
Sun, Bang;
Zhao, Zhiyuan;
Zhang, Xiaoxia;
Nie, Min;
Wu, Xueyan

Publication type:

Article

A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.

Published in:

Andrologia, 2019, v. 51, n. 9, p. N.PAG, doi. 10.1111/and.13377

By:

Raveendran, Suresh Kumar;
Ramachandran, Lola;
Joseph, Lincy;
Asokan, Aneesh Kumar;
Raj, Soumya;
George, Alex;
James, Jimcy

Publication type:

Article

Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 4, p. 226, doi. 10.6065/apem.2015.20.4.226

By:

Jae Yeop Jung;
Sohyoung Yang;
Eun-Hwan Jeong;
Ho-Chang Lee;
Yong-Moon Lee;
Heon-Seok Han;
Kyung Hee Yi

Publication type:

Article

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.954288

By:

Lili Pan;
Zhuoguang Li;
Zhe Su;
Wei Su;
Rongfei Zheng;
Weiyan Chen;
Xuezhi He;
Jianming Song;
Shoulin Li;
Pengqiang Wen

Publication type:

Article

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.954288

By:

Lili Pan;
Zhuoguang Li;
Zhe Su;
Wei Su;
Rongfei Zheng;
Weiyan Chen;
Xuezhi He;
Jianming Song;
Shoulin Li;
Pengqiang Wen

Publication type:

Article

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.885589

By:

Alhamoudi, Kheloud M.;
Alghamdi, Balgees;
Aljomaiah, Abeer;
Alswailem, Meshael;
Al-Hindi, Hindi;
Alzahrani, Ali S.

Publication type:

Article

Germ Cell Tumors in 46, XY Gonadal Dysgenesis.

Published in:

Indian Journal of Endocrinology & Metabolism, 2024, v. 28, n. 4, p. 424, doi. 10.4103/ijem.ijem_373_22

By:

Misgar, Raiz A.;
Islam Mir, Sajad U.;
Mir, Mohmad H.;
Bashir, Mir I.;
Wani, Arshad I.;
Masoodi, Shariq R.

Publication type:

Article

Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature.

Published in:

Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S1, p. S274, doi. 10.4103/2230-8210.119605

By:

Shah, Viral N.;
Ganatra1, Parth J.;
Parikh, Rajni;
Kamdar, Panna;
Baxi, Seema;
Shah, Nishit

Publication type:

Article

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

Published in:

Journal of Human Reproductive Sciences, 2016, v. 9, n. 4, p. 263, doi. 10.4103/0974-1208.197694

By:

Manne, Sriharibabu;
Veeraabhinav, C. H.;
Jetti, Mounica;
Himabindu, Yalamanchali;
Donthu, Kiranmai;
Badireddy, Mutyalarayudu

Publication type:

Article

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases.

Published in:

2016

By:

Tambo, F. F. Mouafo;
Dahoun, S.;
Kamadjou, C.;
Makon, A. S. Nwaha;
Fossi, G.;
Andze, O. G.;
Sosso, M. A.;
Mure, P. Y.;
Mouafo Tambo, F F;
Nwaha Makon, A S

Publication type:

journal article

Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis.

Published in:

Turkish Journal of Pediatrics, 2017, v. 58, n. 5, p. 538

By:

Keskin, Melikşah;
Savaş-Erdeve, Şenay;
Kurnaz, Erdal;
Çetinkaya, Semra;
Karaman, Ayşe;
Apaydın, Sema;
Aycan, Zehra

Publication type:

Article

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY.

Published in:

Clinical Pediatric Endocrinology, 2023, v. 32, n. 4, p. 235, doi. 10.1297/cpe.2023-0032

By:

Chisato Narita;
Noriyuki Takubo;
Manami Sammori;
Yuko Matsumura;
Kazuhiro Shimura;
Rie Ozaki;
Hidenori Haruna;
Satoshi Narumi;
Tomohiro Ishii;
Tomonobu Hasegawa;
Toshiaki Shimizu

Publication type:

Article

Adolescent Girls with Pure Gonadal Dysgenesis: A Rare Disease.

Published in:

Journal of Bangladesh College of Physicians & Surgeons, 2018, v. 36, n. 4, p. 170, doi. 10.3329/jbcps.v36i4.38187

By:

SAHA, J.;
BEGUM, K.;
KHANOM, K. A.;
PRASAD, I.;
AKTER, S.

Publication type:

Article

A RARE CASE OF MIXED GONADAL DYSGENESIS WITH MALIGNANT MIXED GERM CELL TUMOR.

Published in:

2015

By:

Basavaraju, Mamatha;
Balaji, Dhiraj K.

Publication type:

Case Study

Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus.

Published in:

2013

By:

K., Azidah A.;
N. H., Nik Hazlina;
N., Aishah M.

Publication type:

Case Study

A case series of patients with gonadal dysgenesis-associated mixed malignant ovarian germ cell tumor.

Published in:

Gynecological Endocrinology, 2020, v. 36, n. 10, p. 934, doi. 10.1080/09513590.2020.1775194

By:

Yang, Wenqing;
Wu, Lisha;
He, Qiongqiong;
Zhang, Yi;
Zhang, Yu;
Tian, Yan

Publication type:

Article

Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.

Published in:

Gynecological Endocrinology, 2016, v. 32, n. 12, p. 995, doi. 10.1080/09513590.2016.1190820

By:

Huang, He;
Wang, Chun-Qing;
Tian, Qin-Jie

Publication type:

Article

Single-Center Experience in Patients with Mixed Gonadal Dysgenesis.

Published in:

Turkish Archives of Pediatrics, 2024, v. 59, n. 5, p. 476, doi. 10.5152/TurkArchPediatr.2024.24095

By:

Çetiner, Ebru Barsal;
Donbaloğlu, Zeynep;
Singin, Berna;
Behram, Bilge Aydın;
Çetin, Kürşat;
Karagüzel, Güngör;
Tuhan, Hale;
Parlak, Mesut

Publication type:

Article

Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature.

Published in:

Medicine & Pharmacy Reports: Clujul Medical, 2022, v. 95, n. 1, p. 47, doi. 10.15386/mpr-2064

By:

Jakovleva, Alise;
Kovalova, Zanna

Publication type:

Article

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.558

By:

Wagner‐Mahler, Kathy;
Kurzenne, Jean‐Yves;
Gastaud, Frederique;
Hoflack, Marie;
Panaia Ferrari, Patricia;
Berard, Etienne;
Giuliano, Fabienne;
Karmous‐Benailly, Houda;
Moceri, Pamela;
Jouannelle, Celine;
Bourcier, Marine;
Robart, Elise;
Morel, Yves

Publication type:

Article

A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis.

Published in:

Endocrinology Research & Practice, 2024, v. 28, n. 2, p. 130, doi. 10.5152/erp.2024.23344

By:

Eroğlu, Ceren Erdoğan;
Görar, Süheyla;
Paksoy, Barış

Publication type:

Article

Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis.

Published in:

International Journal of Pediatric Endocrinology, 2015, v. 2015, n. 1, p. 1, doi. 10.1186/s13633-015-0010-6

By:

McCann-Crosby, Bonnie;
Gunn, Sheila;
O'Brian Smith, E.;
Karaviti, Lefkothea;
John Hicks, M.

Publication type:

Article

Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.

Published in:

Sexual Development, 2022, v. 16, n. 2/3, p. 92, doi. 10.1159/000522428

By:

Ostrer, Harry

Publication type:

Article

A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.

Published in:

2022

By:

Nishi, Mirian Yumie;
Faria Júnior, José Antônia Diniz;
Krepischi, Ana Cristina Victorino;
de Moraes, Daniela Rodrigues;
da Costa, Silvia Souza;
Silva, Elinaelma Suelane do Nascimento;
Costa, Elaine Maria Frade;
Mendonca, Berenice Bilharinho;
Domenice, Sorahia

Publication type:

Case Study

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.

Published in:

Sexual Development, 2018, v. 12, n. 5, p. 239, doi. 10.1159/000491407

By:

Mazen, Inas;
McElreavey, Kenneth;
Eid, Maha M.;
Bashamboo, anu;
Kamah, Ghada

Publication type:

Article

The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis.

Published in:

Sexual Development, 2018, v. 12, n. 4, p. 175, doi. 10.1159/000489451

By:

Hatano, Megumi;
Fukuzawa, Ryuji;
Hasegawa, Yukihiro

Publication type:

Article

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.

Published in:

Sexual Development, 2017, v. 11, n. 4, p. 203, doi. 10.1159/000478718

By:

Tajouri, asma;
Ben Gaied, Dorsaf;
Hizem, Syrine;
Boujelben, Salma;
Maazoul, Faouzi;
M'rad, Ridha;
Poulat, Francis;
Kharrat, Maher

Publication type:

Article

Long-term Disease Free and Successful Pregnancy in a Woman with Gonadal Dysgenesis and Malignant Germ Cell Tumor.

Published in:

Journal of Family & Reproductive Health, 2012, v. 6, n. 2, p. 91

By:

Mousavi, Azamsadat;
Gilani, Mitra Modares;
Goodarzi, Shirin;
Tehraninejad, Ensieh Sh;
Haeri, Hayedeh

Publication type:

Article

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

Published in:

Clinical Genetics, 2012, v. 82, n. 6, p. 505, doi. 10.1111/j.1399-0004.2011.01832.x

By:

Stoppa-Vaucher, S;
Ayabe, T;
Paquette, J;
Patey, N;
Francoeur, D;
Vuissoz, J-M;
Deladoëy, J;
Samuels, ME;
Ogata, T;
Deal, CL

Publication type:

Article

Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review.

Published in:

Current Oncology, 2022, v. 29, n. 12, p. 9753, doi. 10.3390/curroncol29120766

By:

Zhang, Xinyue;
Zhang, Ying;
Wang, Jinhui;
Yang, Jie;
Yu, Shuangni;
Yin, Min;
Li, Sijian;
Yang, Jiaxin

Publication type:

Article

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.

Published in:

Life (2075-1729), 2023, v. 13, n. 5, p. 1093, doi. 10.3390/life13051093

By:

de Oliveira, Felipe Rodrigues;
Mazzola, Taís Nitsch;
de Mello, Maricilda Palandi;
Francese-Santos, Ana Paula;
Lemos-Marini, Sofia Helena V. de;
Maciel-Guerra, Andrea Trevas;
Hiort, Olaf;
Werner, Ralf;
Guerra-Junior, Gil;
Fabbri-Scallet, Helena

Publication type:

Article

NR5A1 c.991‐1G > C splice‐site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.

Published in:

Clinical Endocrinology, 2021, v. 94, n. 4, p. 656, doi. 10.1111/cen.14381

By:

Laan, Maris;
Kasak, Laura;
Timinskas, Kęstutis;
Grigorova, Marina;
Venclovas, Česlovas;
Renaux, Alexandre;
Lenaerts, Tom;
Punab, Margus

Publication type:

Article

Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.

Published in:

Clinical Endocrinology, 2018, v. 89, n. 2, p. 164, doi. 10.1111/cen.13717

By:

Gomes, Nathalia L.;
Lerário, Antônio Marcondes;
Machado, Aline Zamboni;
Moraes, Daniela Rodrigues de;
Silva, Thatiana Evilen da;
Arnhold, Ivo J. P.;
Batista, Rafael Loch;
Faria Júnior, José Antônio Diniz;
Costa, Elaine F.;
Nishi, Mirian Y.;
Inacio, Marlene;
Domenice, Sorahia;
Mendonca, Berenice B.

Publication type:

Article

A Novel SRY Mutation Leads to Asymmetric SOX9 Activation and Is Responsible for Mixed 46,XY Gonadal Dysgenesis.

Published in:

Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 188, doi. 10.1159/000336925

By:

Klee, Philippe;
Béna, Frédérique;
Birraux, Jacques;
Dahoun, Sophie;
Dirlewanger, Mirjam;
Girardin, Céline;
Plotton, Ingrid;
Rougemont, Anne-Laure;
Morel, Yves;
Schwitzgebel, Valérie M.

Publication type:

Article

Associated leukemia and mixed germ cell tumor in a patient with gonadal dysgenesis.

Published in:

1991

By:

Kaplan, S.S.;
Bornstein, S.G.;
Christopherson, W.A.;
Surti, U.

Publication type:

journal article

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 4, p. 231, doi. 10.6065/apem.2019.24.4.231

By:

Yoon Myung Kim;
Arum Oh;
Kun-Suk Kim;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature.

Published in:

Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. 3, p. 505, doi. 10.4103/2230-8210.111663

By:

Kebaili, Sahbi;
Chaabane, Kais;
Mnif, Mouna Feki;
Kamoun, Mahdi;
Kacem, Faten Hadj;
Guesmi, Nouha;
Gassara, Hichem;
Dammak, Abdallah;
Louati, Doulira;
Amouri, Habib;
Guermazi, Mohamed

Publication type:

Article

Hemoptysis: A Rare Presentation of Mixed Gonadal Dysgenesis.

Published in:

Journal of Human Reproductive Sciences, 2020, v. 13, n. 3, p. 242, doi. 10.4103/jhrs.JHRS_51_20

By:

Das, Darvin V.;
Jabbar, P. K.;
Gomez, Ramesh;
Seena T. P.

Publication type:

Article

GROWTH HORMONE DYNAMICS AMONG CHILDREN WITH MIXED GONADAL DYSGENESIS (45,X/46,XY).

Published in:

Acta Endocrinologica (1841-0987), 2021, v. 17, n. 1, p. 117, doi. 10.4183/aeb.2021.117

By:

Das, D.

Publication type:

Article

THE RARE CASE OF MIXED GONADAL DYSGENESIS, MOSAIC KARYOTYPE, PETROCLIVAL MENINGIOMA AND IDIOPATHIC HYPERDEHYDROEPIANDROSTERONISM.

Published in:

Acta Endocrinologica (1841-0987), 2018, v. 14, n. 4, p. 527, doi. 10.4183/aeb.2018.527

By:

Matulevicius, V.;
Urbanavicius, V.;
Lukosevicius, S.;
Ciaplinskiene, L.;
Ostrauskas, R.

Publication type:

Article

MIXED GONADAL DYSGENESIS ASSOCIATED WITH SHORT STATURE AND GONADOBLASTOMA: CASE REPORT.

Published in:

Acta Endocrinologica (1841-0987), 2015, v. 11, n. 2, p. 221, doi. 10.4183/aeb.2015.221

By:

Velea, P. I.;
Mogoi, M.;
Dema, A.;
David, V.;
Gug, C.;
Paul, C.

Publication type:

Article