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Select item 109526011.

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 107546072.

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 101764123.

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 98206694.

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 95928585.

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 94941866.

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 92929127.

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 86798448.

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 76673549.

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 662643810.

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 660796211.

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 643726512.

XY oocytes of sex-reversed females with a Sry mutation deviate from the normal developmental process beyond the mitotic stage

Akihiko Sakashita, Takuya Wakai, Yukiko Kawabata, Chiaki Nishimura, Yusuke Sotomaru, Kris G Alavattam, Satoshi H Namekawa, Tomohiro Kono

Biol Reprod. 2019 Mar; 100(3): 697–710. Published online 2018 Oct 4. doi: 10.1093/biolre/ioy214

PMCID:: PMC6437265

Abstract Article PDF–12M

Select item 600350613.

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

Abigail Harris, Pam Siggers, Silvia Corrochano, Nick Warr, Danielle Sagar, Daniel T. Grimes, Makoto Suzuki, Rebecca D. Burdine, Feng Cong, Bon-Kyoung Koo, Hans Clevers, Isabelle Stévant, Serge Nef, Sara Wells, Raja Brauner, Bochra Ben Rhouma, Neïla Belguith, Caroline Eozenou, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey, Andy Greenfield

Proc Natl Acad Sci U S A. 2018 May 22; 115(21): 5474–5479. Published online 2018 May 7. doi: 10.1073/pnas.1801223115

PMCID:: PMC6003506

Abstract Article PDF–1.0M

Select item 598317614.

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9

Prince Antwi, Christopher S. Hong, Daniel Duran, Sheng Chih Jin, Weilai Dong, Michael DiLuna, Kristopher T. Kahle

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002766. doi: 10.1101/mcs.a002766

PMCID:: PMC5983176

Abstract Article PDF–4.0M

Select item 583837015.

The Evaluation of Cases with Y-Chromosome Gonadal Dysgenesis: Clinical Experience over 18 Years

Merih Berberoğlu, Zeynep Şıklar, Ankara University Faculty of Medicine Disorders of Sexual Development Ethics Committee

J Clin Res Pediatr Endocrinol. 2018 Mar; 10(1): 30–37. Published online 2018 Feb 26. doi: 10.4274/jcrpe.4826

PMCID:: PMC5838370

Abstract Article PDF–349K

Select item 570257716.

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Montserrat Lara‐Velazquez, Alexander Perdomo‐Pantoja, Patrick R. Blackburn, Jennifer M. Gass, Thomas R. Caulfield, Paldeep S. Atwal

Mol Genet Genomic Med. 2017 Nov; 5(6): 781–787. Published online 2017 Jul 20. doi: 10.1002/mgg3.322

PMCID:: PMC5702577

Abstract Article PDF–821K

Select item 548922717.

Andrea Granados, Veronica I. Alaniz, Lauren Mohnach, Hayk Barseghyan, Eric Vilain, Harry Ostrer, Elisabeth H. Quint, Ming Chen, Catherine E. Keegan

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2017 Jun; 175(2): 253–259. Published online 2017 May 15. doi: 10.1002/ajmg.c.31559

PMCID:: PMC5489227

Abstract Article PDF–352K

Select item 546329018.

Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign

Emine Çamtosun, Zeynep Şıklar, Serdar Ceylaner, Pınar Kocaay, Merih Berberoğlu

J Clin Res Pediatr Endocrinol. 2017 Jun; 9(2): 163–167. Published online 2017 Jun 1. doi: 10.4274/jcrpe.3839

PMCID:: PMC5463290

Abstract Article PDF–196K

Select item 515974619.

Steroidogenic Factor-1 and Human Disease

Ranna El-Khairi, John C. Achermann

Semin Reprod Med. Author manuscript; available in PMC 2016 Dec 16.

Published in final edited form as: Semin Reprod Med. 2012 Oct; 30(5): 374–381. Published online 2012 Oct 8. doi: 10.1055/s-0032-1324720

PMCID:: PMC5159746

Abstract Article PDF–1.0M

Select item 501689520.

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Johanna Känsäkoski, Jarmo Jääskeläinen, Tiina Jääskeläinen, Johanna Tommiska, Lilli Saarinen, Rainer Lehtonen, Sampsa Hautaniemi, Mikko J. Frilander, Jorma J. Palvimo, Jorma Toppari, Taneli Raivio

Sci Rep. 2016; 6: 32819. Published online 2016 Sep 9. doi: 10.1038/srep32819

PMCID:: PMC5016895

Abstract Article PDF–781K

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