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Select item 116297311.

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

Maamoun Adra, Hayato Nakanishi, Eleni Papachristodoulou, Evangelia Karaoli, Petroula Gerasimou, Antri Miltiadous, Katerina Nicolaou, Loizos Loizou, Nicos Skordis

J Clin Res Pediatr Endocrinol. 2024 Dec; 16(4): 495–500. Published online 2024 Dec 4. doi: 10.4274/jcrpe.galenos.2023.2023-12-11

PMCID:: PMC11629731

Abstract Article PDF–333K

Select item 111496692.

Y chromosome in Turner syndrome: review of the literature

Rose Mary Rocco de Oliveira, Ieda Therezinha do Nascimento Verreschi, Monica Vannucci Nunes Lipay, Lilian Piñero Eça, Alexis Dourado Guedes, Bianca Bianco

Sao Paulo Med J. 2009; 127(6): 373–378. Published online 2010 May 21. doi: 10.1590/S1516-31802009000600010

PMCID:: PMC11149669

Abstract Article PDF–266K

Select item 109526013.

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination

Brittany Croft, Anthony D. Bird, Makoto Ono, Stefanie Eggers, Stefan Bagheri‐Fam, Janelle M. Ryan, Alejandra P. Reyes, Jocelyn van den Bergen, Anne Baxendale, Elizabeth M. Thompson, Andrew J. Kueh, Peter Stanton, Tim Thomas, Andrew H. Sinclair, Vincent R. Harley

Clin Genet. 2023 Mar; 103(3): 277–287. Published online 2022 Nov 28. doi: 10.1111/cge.14261

PMCID:: PMC10952601

Abstract Article PDF–6.9M

Select item 107546074.

Xianzhen Wei, Shan Li, Yu He

Medicine (Baltimore) 2023 Dec 29; 102(52): e36725. Published online 2023 Dec 29. doi: 10.1097/MD.0000000000036725

PMCID:: PMC10754607

Abstract Article PDF–432K

Select item 106667155.

A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype

Inshal Jawed, Ayesha Azhar Javed, Syeda Alisha Johar, Daayl N Mirza, Ayesha A Abdani, Asad Ali Khan

Womens Health (Lond) 2023; 19: 17455057231213270. Published online 2023 Nov 22. doi: 10.1177/17455057231213270

PMCID:: PMC10666715

Abstract Article PDF–766K

Select item 101764126.

Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis

Jakob A Meinel, Verónica Yumiceba, Axel Künstner, Kristin Schultz, Nathalie Kruse, Frank J Kaiser, Paul-Martin Holterhus, Alexander Claviez, Olaf Hiort, Hauke Busch, Malte Spielmann, Ralf Werner

J Med Genet. 2023 May; 60(5): 469–476. Published online 2022 Sep 9. doi: 10.1136/jmg-2022-108635

PMCID:: PMC10176412

Abstract Article PDF–5.1M

Select item 98206697.

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

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

Int J Mol Sci. 2023 Jan; 24(1): 494. Published online 2022 Dec 28. doi: 10.3390/ijms24010494

PMCID:: PMC9820669

Abstract Article PDF–1.1M

Select item 97877688.

Challenges in the Diagnosis of XY Differences of Sexual Development

Žana Bumbulienė, Diana Bužinskienė, Greta Banuškevičienė, Evelina Šidlovska, Eglė Preikšaitienė, Algirdas Utkus

Medicina (Kaunas) 2022 Dec; 58(12): 1736. Published online 2022 Nov 27. doi: 10.3390/medicina58121736

PMCID:: PMC9787768

Abstract Article PDF–3.6M

Select item 97767109.

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

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

Curr Oncol. 2022 Dec; 29(12): 9753–9759. Published online 2022 Dec 8. doi: 10.3390/curroncol29120766

PMCID:: PMC9776710

Abstract Article PDF–2.1M

Select item 959285810.

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

Noelia Baz-Redón, Laura Soler-Colomer, Mónica Fernández-Cancio, Sara Benito-Sanz, Marta Garrido, Teresa Moliné, María Clemente, Núria Camats-Tarruella, Diego Yeste

Front Endocrinol (Lausanne) 2022; 13: 957969. Published online 2022 Oct 11. doi: 10.3389/fendo.2022.957969

PMCID:: PMC9592858

Abstract Article PDF–4.1M

Select item 949418611.

46, XY Disorders of Sexual Development: a case report and its theoretical framework

Ilaria Brambilla, Enrico Landi, Carmen Guarracino, Carmelo Pistone, Enrico Tondina, Fabio Sirchia, Luigi Avolio, Piero Romano, Silvia Cavaiuolo, Amelia Licari, Giovanna Riccipetitoni

Acta Biomed. 2022; 93(Suppl 3): e2022145. Published online 2022 Jun 6. doi: 10.23750/abm.v93iS3.13067

PMCID:: PMC9494186

Abstract Article PDF–1.1M

Select item 929291212.

Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function

Tim C. van de Grift, Marion Rapp, Gundela Holmdahl, Lise Duranteau, Agneta Nordenskjold, the dsd‐LIFE group

BJU Int. 2022 Mar; 129(3): 394–405. Published online 2021 Mar 31. doi: 10.1111/bju.15369

PMCID:: PMC9292912

Abstract Article PDF–260K

Select item 888588813.

DMRT1: an ancient sexual regulator required for human gonadogenesis

David Zarkower, Mark W. Murphy

Sex Dev. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Sex Dev. 2022; 16(2-3): 112–125. Published online 2021 Sep 1. doi: 10.1159/000518272

PMCID:: PMC8885888

Abstract Article PDF–787K

Select item 867984414.

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

Dilek Cicek, Nick Warr, Gozde Yesil, Hatice Kocak Eker, Firdevs Bas, Sukran Poyrazoglu, Feyza Darendeliler, Gul Direk, Nihal Hatipoglu, Mehmet Eltan, Zehra Yavas Abali, Busra Gurpinar Tosun, Sare Betul Kaygusuz, Tuba Seven Menevse, Didem Helvacioglu, Serap Turan, Abdullah Bereket, Richard Reeves, Michelle Simon, Matthew Mackenzie, Lydia Teboul, Andy Greenfield, Tulay Guran

Eur J Endocrinol. 2022 Jan 1; 186(1): 65–72. Published online 2021 Oct 28. doi: 10.1530/EJE-21-0910

PMCID:: PMC8679844

Abstract Article PDF–2.9M

Select item 803407415.

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana

BMC Med Genomics. 2021; 14: 98. Published online 2021 Apr 8. doi: 10.1186/s12920-021-00934-x

PMCID:: PMC8034074

Abstract Article PDF–734K

Select item 787509516.

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing

Ahlee Kim, Katherine Abell, Jodie Johnson, Stephanie Cizek, Lesley Breech, Michelle M. Ernst, Robert J. Hopkin, Kimberly Kennedy, Jerzy Stanek, Andrew C. Strine, Meilan M. Rutter

Pediatrics. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Pediatrics. 2020 Nov; 146(5): e20193302. Published online 2020 Oct 15. doi: 10.1542/peds.2019-3302

PMCID:: PMC7875095

Abstract Article PDF–405K

Select item 766735417.

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni

Mol Genet Genomic Med. 2020 Nov; 8(11): e1514. Published online 2020 Sep 28. doi: 10.1002/mgg3.1514

PMCID:: PMC7667354

Abstract Article PDF–551K

Select item 662643818.

Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor

Farnaaz Kia, Kyriakie Sarafoglou, Ashajyothi Mooganayakanakote Siddappa, Kari D Roberts

BMJ Case Rep. 2019; 12(7): e227986. Published online 2019 Jul 12. doi: 10.1136/bcr-2018-227986

PMCID:: PMC6626438

Abstract Article PDF–201K

Select item 660796219.

Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency

Vipula Kolli, Hannah Kim, Ahmed Torky, Qizong Lao, Christina Tatsi, Ashwini Mallappa, Deborah P Merke

J Clin Endocrinol Metab. 2019 Feb; 104(2): 269–276. Published online 2018 Oct 8. doi: 10.1210/jc.2018-01661

PMCID:: PMC6607962

Abstract Article

Select item 650132320.

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

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

BMC Pediatr. 2019; 19: 143. Published online 2019 May 6. doi: 10.1186/s12887-019-1520-9

PMCID:: PMC6501323

Abstract Article PDF–4.2M

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