Results 21 to 30 of about 1,226,810 (157)

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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Challenges in the Diagnosis of XY Differences of Sexual Development

Medicina, 2022
Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen ...
Žana Bumbulienė, Diana Bužinskienė, Greta Banuškevičienė, Evelina Šidlovska, Eglė Preikšaitienė, Algirdas Utkus   +5 more
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Complete androgen insensitivity syndrome with Sertoli cell tumour in a 27-year-old married woman: a case report

African Journal of Urology, 2023
Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development that results from mutations in the androgen receptors leading to failure of normal masculinization of the external genitalia in genetically male individuals.
Mumini Wemimo Rasheed, Najeem Adedamola Idowu, Adebayo Ayoade Adekunle, Joseph Olusola Olarewaju, Latifat Tunrayo Oduola-owoo, Foluke Omolara Odetayo, Felix Abiodun Omolade, Akinremi Tosin Opeyemi   +7 more
doaj   +1 more source

Androgen insensitivity syndrome (AIS) [PDF]

, 2012
SummaryAndrogen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens ...
Bunch, Trevor I., MacDougall, Jane, Hughes, Ieuian, Hughes, Ieuan A, Davies, John D, Bunch, Trevor I, Pasterski, Vickie, Davies, John D., Mastroyannopoulou, Kiki   +8 more
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An Early Case of Complete Androgen Insensitivity Syndrome

Journal of Investigative Medicine High Impact Case Reports, 2023
Inguinal hernias are rare in female infants, and when present, there is an increased incidence of androgen insensitivity in these infants. We present a case of bilateral inguinal hernias in a 26-day-old full-term phenotypic female.
Leen Matalka MD, S. Joy Dean MD, Giovanna Beauchamp MD, Bhuvana Sunil MD   +3 more
doaj   +1 more source

Androgen insensitivity syndrome, a case report and literature review [PDF]

, 2017
A case of androgen insensitivity syndrome who presented with left labial mass and inguinal hernia was managed by surgery and counselling. The aim of this report is to present a rare case of androgen insensitivity syndrome, its cause, diagnosis and ...
V. M., Chaitanya, Malipatil, Pushpanjlai, Malipatil, Venkatreddy   +2 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
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Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report

The Pan African Medical Journal, 2016
Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen
Regragui Souhail, Slaoui Amine, Abounouh Nadia, Karmouni Tarik, El Khader Khalid, Koutani Abdellatif, Ibn Attya Ahmed   +6 more
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Mild androgen insensitivity syndrome presenting as male infertility with azoospermia

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Androgen insensitivity syndrome results from a mutation in androgen receptor gene. It has wide spectrum of phenotypic presentations. Mild androgen insensitivity syndrome (MAIS) is the milder form, present as undervirilized male syndrome.
Dharshini Karuppiah, Sanduni Kudabadu
doaj   +1 more source