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Androgen insensitivity syndrome: preventive gonadectomy, pros and cons

Ожирение и метаболизм
Androgen insensitivity syndrome is a genetic disorder characterized by complete or partial androgen insensitivity in individuals with a 46XY genotype.
E. A. Starostina, N. V. Frolkova, S. M. Seidova, E. G. Przhiyalkovskaya, N. M. Platonova, E. A. Troshina   +5 more
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Mutational analysis of androgen receptor gene in two families with androgen insensitivity

Indian Journal of Endocrinology and Metabolism, 2017
Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone.
Radha Ramadevi Akella
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Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis

Revista Brasileira de Ginecologia e Obstetrícia, 2021
With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome
Maria Liz Coelho, Elisa Soares, Marília Freixo, Pedro Brandão, Carla Marinho, Juliana Rocha, Graça Rodrigues   +6 more
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Androgen insensitivity syndrome: a review

Archives of Endocrinology and Metabolism
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically ...
Rafael Loch Batista, Elaine M. Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria Jr., Mirian Y. Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca   +8 more
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Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing [PDF]

The Application of Clinical Genetics
Tadeusz Kałużewski,1,2 Iwona Pinkier,1 Urszula Wysocka,1 Jordan Sałamunia,2 Łukasz Kępczyński,1,2 Małgorzata Piotrowicz,1 Bogdan Kałużewski,2 Agnieszka Gach1 1Department of Genetics, Polish Mother’
Kałużewski T, Pinkier I, Wysocka U, Sałamunia J, Kępczyński Ł, Piotrowicz M, Kałużewski B, Gach A   +7 more
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Some aspects of androgen insensitivity

, 1986
The clinical and endocrine features of the syndromes of androgen insensitivity which display a wide phenotypic spectrum are reviewed. A simple, dispersed whole cell assay to study androgen receptor binding in genital skin fibroblasts has been used to ...
Hughes, I. A., Evans, Bronwen Alice James   +1 more
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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome [PDF]

, 2023
We report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene.
Le, Phan Tuong Quynh, Ha, Thi Minh Thi, Hoang, Thi Thuy Yen, Le, Thanh Nha Uyen   +3 more
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Late Diagnosis of Partial Androgen Insensitivity Syndrome in a Peruvian Child [PDF]

, 2021
El Consejo Editorial es un equipo de expertos en el campo de la revista.Los trastornos de la diferenciación sexual son patologías congénitas caracterizadas por un desarrollo atípico del sexo genético, gonadal o fenotípico.
García Villasante, Eilhart Jorge, Concepción Zavaleta, Marcio José, Massucco Revoredo, Frederick Glenn, Zavaleta Gutiérrez, Francisca Elena, Barrantes Ticlla, José Luis   +4 more
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Genotype versus phenotype in families with androgen insensitivity syndrome [PDF]

, 2001
Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is ...
Rouwé, C.W. (Catrienus), Kwast, Theodorus, Brunner, H.G. (Han), Oostdijk, W (Wilma), Verleun-Mooijman, M.C., Kwast, Th.H. (Theo) van der, Verleun-Mooijman, M.C.T., Niermeijer, MF, Waelkens, JJ, Rouwe, CW, Drop, SLS, Boehmer, Annemie, Brinkmann, A.O., Waelkens, J.J., Mooijman, Marja, Brunner, H.G., Drop, S.L.S. (Stenvert), Brüggenwirth, Hennie, Otten, B.J., Oostdijk, W., Niermeijer, Martinus, Brunner, HG, Boehmer, ALM, Vroede, M.A. de, Verleun-Mooijman, MCT, Kleijer, WJ, Niermeijer, M.F., Otten, BJ, Kleijer, W.J., Waelkens, J, Boehmer, A.L.M. (Annemie), Bruggenwirth, H, De Vroede, MA, Oostdijk, W, Niermeijer, M.F. (Martinus), Otten, B.J. (Barto), Rouwé, C.W., Kwast, T.H. van der, Kleijer, W, Bruggenwirth, H.T., Oostdijk, W. (Wilma), Van Assendelft, C, Brüggenwirth, H.T. (Hennie), Drop, S.L., Waelkens, J.J.J. (Johan), Kleijer, W.J. (Wim), Boehmer, A.L., Van der Kwast, TH, Assendelft, C. van, Drop, Sten   +49 more
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Clinical, Hormonal and Genetics Features in patients with Androgen Insensitivity Syndrome in Cytogenetic Laboratories in Semarang [PDF]

, 2006
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by impaired Androgen Receptor (AR) which is encoded in Xq 11-12. In this condition, although the androgen is produced sufficiently, but the peripheral masculinizing effect is blocked ...
Tonang, Alvin
core   +1 more source