Results 41 to 50 of about 2,574,928 (152)

P327: Partial androgen insensitivity syndrome in three siblings revealed by an androgen receptor synonymous variant in the Democratic Republic of Congo [PDF]

Genetics in Medicine Open
Kizito Mosema, D’Andre Spencer, René Kabanga-Biyanga, D. Tshala Katumbay, Dieudonné Mumba Ngoyi, Jean-Pierre Alworonga-Opara, Eric Vilain, Emmanuèle C. Délot   +7 more
openalex   +2 more sources

Primary Amenorrhea in Patients with Partial and Complete Androgen Insensitivity Syndrome: A Case Report [PDF]

Journal of Obstetrics Gynecology and Cancer Research
Prita Aji Malinda, Sri Ratna Dwiningsih, Arif Tunjungseto   +2 more
openalex   +2 more sources

Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome

Journal of Clinical Endocrinology and Metabolism, 2019
CONTEXT Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development in 46,XY individuals. It is an X-linked condition that is usually caused by pathogenic allelic variants in the androgen receptor (AR) gene.
Rafael Loch Batista, Katsumi YAMAGUCHI, Andresa di Santi Rodrigues, Mirian Yumie Nishi, John L. Goodier, Luciani R. S. Carvalho, Sorahia Domenice, Elaine Maria Frade Costa, Haig H. Kazazian, Berenice Bilharinho Mendonca   +9 more
openalex   +3 more sources

Masked by Femininity: A Clinical Exploration of Complete and Partial Androgen Insensitivity Syndrome

Journal of GMC Nagpur
Iqbal Singh, Rahul Rohitaj, Himanshu Agrawal   +2 more
openalex   +2 more sources

PARTIAL ANDROGEN INSENSITIVITY SYNDROME IN A PATIENT REARED AS FEMALE WITH AMBIGUOUS GENITALIA: A CASE REPORT AND MINI-REVIEW

International Journal of Research Publications, 2022
Joice Marlina Budiharto, Reny I’tishom, William William   +2 more
openalex   +3 more sources

The challenges of androgen insensitivity syndrome

Archives of Medical Science, 2021
Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients.
Bratu Ovidiu, Dragos R. Marcu, Dan L. D. Mischianu, Catalina Poiana, Camelia C. Diaconu, Simona G. Bungau, Delia M. Tit, Alin Cumpanas, Roxana Bohiltea   +8 more
doaj   +1 more source

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
core   +1 more source

Disorders of Sex Development: Ambiguous Genitalia and Partial Androgen Insensitivity Syndrome [PDF]

Emerald Reach Proceedings Series, 2018
Rajuddin Rajuddin, Fauzan Fauzan
exaly   +2 more sources

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
core   +4 more sources

GENDER ASSIGNMENT IN COMPLETE ANDROGEN INSENSITIVITY SYNDROME. WHO SHOULD BE THE DECISION MAKER

Pakistan Armed Forces Medical Journal, 2020
Androgen insensitivity syndrome (AIS) is a condition in which the target cells are unable to respond to androgenic hormones. This inability can be complete or partial.
Naveed Ahmed, Iftikhar Ahmed, Safdar Awan, Omair Arshad Dar, Shehla Kanwal, C. Aqeel Safdar, Mudasir Saleem   +6 more
doaj   +6 more sources