Results 81 to 90 of about 167,060,252 (161)

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

Update on the genetics of differences of sex development (DSD)

, 2019
Human gonadal development is regulated by the temporospatial expression of many different genes with critical dosage effects. Subsequent sex steroid hormone production requires several consecutive enzymatic steps and functional hormone receptors ...
Elfride De Baere, De Baere, Elfride, Baetens, Dorien, Verdin, Hannah, Dorien Baetens, Hannah Verdin, Cools, Martine, Martine Cools   +7 more
core   +1 more source

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? [PDF]

, 2018
SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only.
Audí, Laura, Schaller, André, André Schaller, Camats Tarruella, Núria, Núria Camats, Mónica Fernández-Cancio, Christa E. Flück, Flück Pandey, Christa Emma, Fernández-Cancio, Mónica, Laura Audí   +9 more
core   +1 more source

Moving Intersex/DSD Rights and Care Forward: Lay Understandings of Common Dilemmas

Journal of Social and Political Psychology, 2019
When sex characteristics develop in ways that do not conform to binary models, dilemmas arise regarding how to understand the situation and what terminology to use to describe it.
Tove Lundberg, Ingrid Dønåsen, Peter Hegarty, Katrina Roen   +3 more
doaj   +1 more source

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing. [PDF]

Genes (Basel), 2021
De Falco L, Piscopo C, D'Angelo R, Evangelista E, Suero T, Sirica R, Ruggiero R, Savarese G, Di Carlo A, Furino G, Scarpato C, Fico A.   +11 more
europepmc   +1 more source

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

, 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
Audí Laura, Granada Maria Luisa
core   +1 more source

Analisa Faktor Permasalahan Pengurusan Pertukaran Jantina Pesakit Disorder Of Sex Development (DSD) Muslim di Malaysia

Disorder of Sex Development (DSD) refers to individuals with abnormal genetic, gonadal, or anatomical conditions. DSD patients with khunsa-status gender dysphoria often require gender reassignment and surgery to repair or remove one of the genitals ...
Anisatul-Qalbi M. S, Wan Maslukma W. Z
core   +1 more source

Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation

Case Reports in Genetics
Discordance between the genetic sex and phenotype seen on ultrasound can identify disorders of sexual development (DSD) that previously escaped detection until puberty.
Madeline Snipes, Stephanie Stokes, Amy Vidalin, Lee D. Moore, Natalia Schlabritz-Lutsevich, James Maher   +5 more
doaj   +1 more source

Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]

, 2014
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Sinnott, Richard, Ahmed, S Faisal, Alkhawari, M. (Mona), Darendeliler, F, Balsamo, Antonio, Sinnott, R. (Richard), Cools, M.B.C.M. (Martine), Arlt, W, Drop, S, Hiort, O. (Olaf), O. Hiort, Audi, L, Jiang, J, Bertelloni, Silvano, N. Krone, L. Lisa, Morel, Y. (Yves), Soder, O, Darendeliler, Feyza, Y. Morel, Hior, O, P. Wieacker, Wieacker, P. (Peter), Hiort, Olaf, Balsamo, A. (Antonio), Ahmed, S.F. (Sayed), Holterhus, Paul-Martin, I. Hughes, O. Soder, Darendeliler, F. (Feyza), J. Jiang, Holterhus, P-M. (Paul-Martin), Bryce, J. (Jillian), Balsamo, A, M. Cools, Hughes, Ieuan, Krone, N, Lisa, Lidka, Morel, Yves, Arlt, W. (Wiebke), Soder, O. (Olle), Ellaithi, M, Hughes, I. (Ieuan), Jiang, J (John), L. Audi, Arlt, Wiebke, Jiang, Jipu, Drop, Sten, Audi, Laura, Hiort, O, F. Darendeliler, M. Ellaithi, Audi, S. (Salma), Bertelloni, S, Sinnott, R, Holterhus, PM, K. Cox, Krone, Nils, Guran, T. (Tulay), Drop, S.L.S. (Stenvert), Bryce, Jillian, Drop, Stenvert, Bertelloni, S. (Silvano), Ellaithi, M. (Mona), Morel, Y, Cools, M, Ahmed, SF, Rodie, Martina, R. Sinnott, Jiang, J. (John), Wieacker, Peter, Alkhawari, Mona, Cox, K, S. F. Ahmed, Lisa, E. (Elena) de, J. Bryce, Cools, Martine, Lisa, L, Cools, M (Martine), Guran, Tulay, S. Bertelloni, Rodie, M. (Martina), M. Alkhawari, M. Rodie, Guran, T, S. Drop, Wieacker, P, Hughes, I, Krone, B., Darendeliler, Fatma Feyza, Soder, Olle, Ahmed, S. Faisal, T. Guran, Cox, K. (Kathryn), Alkhawari, M, Cox, Kathryn, P. M. Holterhus, Rodie, M, Bryce, J, W. Arlt, Ellaithi, Mona   +100 more
core   +1 more source

Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency

Frontiers in Pediatrics
17β-hydroxysteroid dehydrogenase type 3 deficiency is a 46,XY difference of sex development (DSD) that may present in childhood with inguinal testes or at puberty following virilization. We present four individuals, assigned female at birth, to highlight
Lissa X. Yu, Jodie Johnson, Christine M. Pennesi, Christine M. Pennesi, Michelle M. Ernst, Michelle M. Ernst, Andrew Strine, Andrew Strine, Armand H. Matheny Antommaria, Armand H. Matheny Antommaria, Robert J. Hopkin, Robert J. Hopkin, David E. Sandberg, Behzad Khorashad, Lauren Mohnach, Amer Heider, Meilan M. Rutter, Meilan M. Rutter   +17 more
doaj   +1 more source