Results 1 to 10 of about 2,351 (123)

Satisfaction with a new patient education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents. [PDF]

PEC Innovation
Objective: Evaluation of the participant satisfaction with a newly developed interdisciplinary, modular education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents.
Sabine Wiegmann, Ralph Schilling, Mirja Winter, Martina Ernst, Katja Wechsung, Ute Kalender, Barbara Stöckigt, Annette Richter-Unruh, Olaf Hiort, Ulla Döhnert, Louise Marshall, Julia Rohayem, Klaus-Peter Liesenkötter, Martin Wabitsch, Gloria Herrmann, Gundula Ernst, Stephanie Roll, Thomas Keil, Uta Neumann   +18 more
doaj   +4 more sources

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)

Advances in Laboratory Medicine, 2021
The development of female or male sex characteristics occurs during fetal life, when the genetic, gonadal, and internal and external genital sex is determined (female or male). Any discordance among sex determination and differentiation stages results in
Granada Maria Luisa, Audí Laura
doaj   +5 more sources

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population [PDF]

BMC Endocrine Disorders, 2017
Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler, on behalf of the dsd-LIFE group   +10 more
doaj   +2 more sources

Quality of care for people with differences of sex development (DSD) in Germany [PDF]

Orphanet Journal of Rare Diseases
Background People with "Differences of Sex Development" (DSD) require comprehensive, specialised, and individualised medical and psychological care. This is often perceived as inadequate by those affected. Therefore, the German Federal Ministry of Health
Maike Schnoor, Andreas Heidenreich, Martina Jürgensen, Ulla Döhnert, Olaf Hiort, Alexander Katalinic   +5 more
doaj   +2 more sources

Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE) [PDF]

BMC Health Services Research, 2018
Background To investigate the association between the structural quality of care and patient satisfaction with care in individuals with disorders/ differences of sex development (DSD). Methods A multicenter cross-sectional comparative study was conducted
Ute Thyen, Till Ittermann, Steffen Flessa, Holger Muehlan, Wiebke Birnbaum, Marion Rapp, Louise Marshall, Maria Szarras-Capnik, Claire Bouvattier, Baudewijntje P. C. Kreukels, Anna Nordenstroem, Robert Roehle, Birgit Koehler, on behalf of the dsd-LIFE group   +13 more
doaj   +2 more sources

Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis [PDF]

Scientific Reports
Differences of sex development (DSD) comprise a heterogeneous group of conditions involving atypical chromosomal, gonadal, or anatomical sex. While genetic causes have been extensively studied, transcriptional programs underlying human gonadal ...
Helena Fabbri-Scallet, Verónica Calonga-Solís, Gil Guerra-Júnior, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Arthur Antolini-Tavares, Hauke Busch, Axel Künstner, Ralf Werner, Olaf Hiort   +10 more
doaj   +2 more sources

Satisfaction with health care among people with differences of sex development (DSD) in Germany [PDF]

Endocrine Connections
Objective: Individuals with a difference of sex development (DSD) face complex medical and psychosocial challenges, which can make it difficult to provide care tailored to their needs and in line with guidelines.
Maike Schnoor, Andreas Heidenreich, Martina Jürgensen, Ulla Döhnert, Olaf Hiort, Alexander Katalinic, the DSDCare study group   +6 more
doaj   +2 more sources

Clinical practice guidelines for the management of differences of sex development in Japan [PDF]

Endocrine Journal
Differences of sex development (DSD) are congenital conditions in which chromosomal, gonadal, and anatomical sex characteristics are discordant with typical male or female development.
Tomohiro Ishii, Kenichi Kashimada, Masanobu Kawai, Tomoyo Itonaga, Takeshi Iwasa, Akari Utsunomiya, Kayo Ozaki, Kazuhiro Kawamura, Junko Kanno, Jun Koh, Yoshiyuki Kojima, Shoko Sasaki, Hiroyuki Sato, Koji Shiraishi, Yasuhiro Naiki, Mitsuru Nishiyama, Takashi Hamajima, Yasuko Fujisawa, Noriko Makita, Katsuyuki Matsui, Toshihiro Yanai, Reiko Horikawa, Tsutomu Ogata   +22 more
doaj   +3 more sources

The potential of deep learning on the discovery of new genes implicated in differences of sex development [PDF]

Computational and Structural Biotechnology Journal
Despite advances in understanding genetic causes of DSD (differences of sex development), the molecular cause remains unknown for over half of affected individuals.
Isabel von der Decken, Hamid Azimi, Anna Lauber-Biason   +2 more
doaj   +2 more sources

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development [PDF]

Biology of Sex Differences
Structural variants (SVs) may increase SOX3 expression in the gonads and have been observed in individuals with ovotesticular differences in sex development (OT-DSD) and XX testicular differences in sex development (T-DSD).
Carolina Gama Nascimento-Vidoti, Helena Fabbri-Scallet, Mara Sanches Guaragna, Melissa Bittencourt de Wallau, Vanessa Sodré de Souza, Silvia Souza da Costa, Ana Cristina Victorino Krepischi, Juliana Forte Mazzeu, Claudia M. B. Carvalho, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior, Társis Paiva Vieira   +11 more
doaj   +2 more sources