Results 61 to 70 of about 2,351 (123)

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next studyResearch in context

EBioMedicine
Summary: Background: Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants.
Chrysanthi Kouri, Idoia Martinez de Lapiscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay-Sara Sauter, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, S. Faisal Ahmed, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Hedi L. Claahsen - van der Grinten, Martine Cools, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia- Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Ieuan Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar L’Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, LIoyd J.W. Tack, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska   +73 more
doaj   +1 more source

A Critical Response to the UK's ‘Sullivan Review’ Into Sex and Gender in Research and Data

Transactions of the Institute of British Geographers, Volume 51, Issue 2, June 2026.
ABSTRACT This intervention argues that the UK Government‐commissioned independent review of data, statistics and research on sex and gender (the ‘Sullivan Review’) implicitly promotes the erasure of trans and gender diverse people from research and data collection protocols and carries worrying implications for the inclusion of trans people within UK ...
Jay JD Todd, Felicity Callard
wiley   +1 more source

A Familial X‐Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice‐Site Variant

Animal Genetics, Volume 57, Issue 3, June 2026.
Anna Letko, Vidhya Jagannathan, Cord Drögemüller, Gesine Lühken   +3 more
wiley   +1 more source

Cytogenomic description of a Mexican cohort with differences in sex development

Molecular Cytogenetics
Background Differences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex characters. Although these conditions do not represent a mortality risk, they can have a severe psycho-emotional
Grecia C. Olivera-Bernal, Marlon De Ita-Ley, Edgar F. Ricárdez-Marcial, Luz María Garduño-Zarazúa, Ángel Ricardo González-Cuevas, Omar A. Sepúlveda-Robles, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Laura Santana-Díaz, Haydeé Rosas-Vargas   +9 more
doaj   +1 more source

In-depth exploration of differences of sex development: 5-year experience in a tertiary center

Endocrine Connections
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari   +6 more
doaj   +1 more source

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model

Biology of Sex Differences, 2018
Background Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from mild hypospadias to a discrepancy between sex chromosomes and external genitalia.
Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E. Segura, Ascia Eskin, Matthew S. Bramble, Valerie A. Arboleda, Ruth Baxter, Stanley F. Nelson, Emmanuèle C. Délot, Vincent Harley, Eric Vilain   +12 more
doaj   +1 more source

Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care

Frontiers in Pediatrics, 2019
Background: Patients with a disorder of sex development (DSD) are born with atypical genitals or may develop atypical genitals and atypical body appearance, if left untreated.
Annastasia Ediati, Annastasia Ediati, Gijsbert H. W. Verrips, Achmad Zulfa Juniarto, Achmad Zulfa Juniarto, Sultana M. H. Faradz, Sultana M. H. Faradz, Stenvert L. S. Drop, Arianne B. Dessens   +8 more
doaj   +1 more source

Long-term outcomes in non-CAH 46,XX DSD

Frontiers in Endocrinology
Differences/disorders of sex development (DSD) comprise a large group of rare congenital conditions. 46,XX DSD, excluding congenital adrenal hyperplasia (CAH), represent only a small number of these diseases.
Virginie Grouthier, Virginie Grouthier, Anne Bachelot, Anne Bachelot   +3 more
doaj   +1 more source

Creation of an Electronic Resource Repository for Differences of Sex Development (DSD): Collaboration Between Advocates and Clinicians in the DSD-Translational Research Network. [PDF]

Sex Dev, 2022
Rutter MM, Muscarella M, Green J, Indig G, von Klan A, Kennedy K, Weidler EM, Barrett M, Sandberg DE, DSD-Translational Research Network.   +9 more
europepmc   +1 more source

Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol of Empower-DSD. [PDF]

BMC Endocr Disord, 2022
Wiegmann S, Ernst M, Ihme L, Wechsung K, Kalender U, Stöckigt B, Richter-Unruh A, Vögler S, Hiort O, Jürgensen M, Marshall L, Menrath I, Schneidewind J, Wagner I, Rohayem J, Liesenkötter KP, Wabitsch M, Fuchs M, Herrmann G, Lutter H, Ernst G, Lehmann C, Haase M, Roll S, Schilling R, Keil T, Neumann U.   +26 more
europepmc   +1 more source