Results 61 to 70 of about 9,016 (186)

Genetic and semen examination of patients with 46,XX testicular disorder of sex development

Andrology and Genital Surgery, 2023
Background. 46,XX male syndrome (XX sex reversal) or 46,ХХ testicular disorder of sex development (DSD) – a genetic disorder that characterized by primary hypogonadism and male infertility because of severe spermatogenesis defects. 46,XX testicular DSD is resulted from unbalanced microstructural sex chromosome abnormalities, mostly X-Y translocations ...
M. I. Shtaut, T. M. Sorokina, L. F. Kurilo, M. V. Andreeva, N. V. Oparina, A. V. Polyakov, N. V. Shilova, V. B. Chernykh   +7 more
openaire   +1 more source

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

, 2014
Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia.
Silvia Majore, LAINO, LUIGI, GRAMMATICO, Barbara, N. Preziosi, S. Scommegna, BOTTILLO, IRENE, G. Marrocco, GRAMMATICO, Paola, C. De Bernardo, A. M. Rapone   +9 more
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Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges

JCRPE, 2020
Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals.Methods:The purpose of this study was to investigate the results of gender assignment
Fatih Gürbüz, Murat Alkan, Gonca Çelik, Atıl Bişgin, Necmi Çekin, İlker Ünal, Ali Kemal Topaloğlu, Ünal Zorludemir, Ayşe Avcı, Bilgin Yüksel   +9 more
doaj   +1 more source

Urethral stricture in a 46,XX male with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: A literature review and case report

Urology Case Reports
Disorders of sex development in 46,XX male individuals are rare and present complex surgical challenges, particularly regarding urethral stricture following urethral surgery.
Laura Gallardo Zamora, Yesica Quiroz Madarriaga, Anna Bujons Tur, Antoni Sanchez i Puy, David Salinas Duffo, Juan Antonio Peña Gonzalez   +5 more
doaj   +1 more source

Clinical Review of 95 Patients with 46,XX Disorders of Sex Development Based on the New Chicago Classification

, 2015
Study Objective The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient ...
Kilic, Birim Gunay
core   +1 more source

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive [PDF]

BMC Urology, 2014
To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene.Five untreated 46, XX patients with SRY-positive were referred for infertility.
Wu, Qiu-Yue, Li, Na, Li, Wei-Wei, Li, Tian-Fu, Zhang, Cui, Cui, Ying-Xia, Xia, Xin-Yi, Zhai, Jin-Sheng   +7 more
openaire   +2 more sources

Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development

, 2021
Objective: The aim of this study was to assess the quality of life (QoL) and psychological well-being in child and adolescent with disorders of sex development (DSD). Methods: Sixty-two cases, aged 2-18 years, who were followed by a multidisciplinary DSD
Çoğulu, Özgür, Darcan, Şükran, Ulman, İbrahim, Özen, Samim, Gökşen, Damla, Özbaran, Burcu, Pilan, Birsen Şentürk   +6 more
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What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Frontiers in Endocrinology, 2020
Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH),
Nathalie Josso, Rodolfo A. Rey
doaj   +1 more source

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

, 2016
Background: SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and
Kim, Gwang-Jin, Troppmann, Elke, Mann, Jillian, Hiort, Olaf, Zipf, William, Rostásy, Moritz, Costigan, Colm, Wegner, Michael, Rösler, Bernd, Radi, Orietta, Denzer, Friederike, Wieacker, Peter, Buchberger, Astrid, German, James, Kramer, Mildred, Scherer, Gerd, Hoepffner, Wolfgang, Arnold, Hans-Henning, Camerino, Giovanna, Salfelder, Anika, Cole, Trevor, Georg, Ina, Widholz, Sebastian A., Schmiady, Hardi, Teichmann, Anne-Christin, Just, Walter, Seguin, John H., Kaltenbach, Simon, Sock, Elisabeth   +28 more
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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children [PDF]

, 2018
Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while actively repressing the ...
Eozenou, Caroline, Sophie Lambert, Joelle Bignon-Topalovic, Rodriguez-Buritica, David, Lambert, S, Eozenou, C, Bashamboo A, Bignon-Topalovic, Joelle, Lambert, Sophie, Lambert S, John C. Achermann, Sólyom, J, Bashamboo, Anu, Halász, Z, Tar, Attila, Tar A, Siffroi, J-P, Ewa Rajpert-De Meyts, Janos Sólyom, Attila Tar, Nagy, Péter, Jorgensen, A, Martinerie L, Péter Nagy, Nagy, P, Bertalan, Rita, Ken McElreavey, Bignon-Topalovic J, Rajpert-de Meyts, Ewa, Rajpert-De Meyts, E, Bertalan R, Bertalan, R, Achermann, John, C, Halász, Zita, Rajpert-De Meyts E, Bashamboo, A, Hyon C, Tar, A, Martinerie, L, Eozenou C, Jean-Pierre Siffroi, Rita Bertalan, Anne Jorgensen, Jorgensen A, Paye-Jaouen A, David Rodriguez-Buritica, Bignon-Topalovic, J, Paye-Jaouen, A, Achermann, JC, Zita Halász, Nagy P, Hyon, Capucine, Jørgensen, Anne, Sólyom, Janos, Mcelreavey, Ken, Rodriguez-Buritica D, Rodriguez-Buritica, D, McElreavey K, Paye-Jaouen, Annnabel, Achermann JC, Capucine Hyon, Solyom J, McElreavey, K, Annnabel Paye-Jaouen, Hyon, C, Martinerie, Laetitia, Anu Bashamboo, Siffroi JP, Caroline Eozenou, Siffroi, Jean-Pierre, Laetitia Martinerie   +70 more
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