Results 11 to 20 of about 28,940 (212)

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome [PDF]

Scientific Reports
Androgen insensitivity syndrome (AIS) is a difference of sex development (DSD) characterized by different degrees of undervirilization in individuals with a 46,XY karyotype despite normal to high gonadal testosterone production.
Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Naseebullah Kakar, Kristin Schulz, Kristian Händler, Annemarie A. Verrijn Stuart, Jacques C. Giltay, Koen L. van Gassen, Almuth Caliebe, Paul-Martin Holterhus, Malte Spielmann, Nadine C. Hornig   +14 more
doaj   +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   +2 more sources

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   +2 more sources

Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report

Journal of Medical Case Reports, 2021
Background Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete ...
Stephanie Farah, Dana El Masri, Kamal Hirbli   +2 more
doaj   +2 more sources

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
doaj   +2 more sources

Androgen insensitivity syndrome: a review

Archives of Endocrinology and Metabolism, 2018
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
doaj   +2 more sources

Androgen Insensitivity Syndrome

Journal of the ASEAN Federation of Endocrine Societies
INTRODUCTIONAndrogen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by mutations in the androgen receptor. In Malaysia, only four cases of complete androgen insensitivity syndrome (CAIS) have been reported. CASEWe present three biological cousins born to two sisters from the same maternal lineage, presenting with varying ...
Singh S, Ilyayeva S.
europepmc   +4 more sources

Molecular genetics and general management of androgen insensitivity syndrome. [PDF]

Intractable Rare Dis Res, 2023
Androgen insensitivity syndrome (AIS) is a rare genetic disorder that affects the development of the male reproductive system in individuals with a 46,XY karyotype.
Chen Z, Li P, Lyu Y, Wang Y, Gao K, Wang J, Lan F, Chen F.   +7 more
europepmc   +2 more sources

Complete androgen insensitivity syndrome: a case report and literature review. [PDF]

J Int Med Res, 2023
Complete androgen insensitivity syndrome (CAIS) is a rare disease that can be easily misdiagnosed. Before puberty, this condition is easily misdiagnosed as an inguinal hernia.
Guo M, Huang JC, Li CF, Liu YY.
europepmc   +2 more sources

Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.

J Clin Endocrinol Metab
Introduction Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associated with gynecomastia in males. Objectives To assess the management of gynecomastia in male PAIS.
Patjamontri S, Lucas-Herald AK, Bryce J, van den Akker E, Cools M, Globa E, Guerra-Junior G, Hiort O, Hofman P, Holterhus PM, Hughes IA, Juul A, Nordenstrom A, Russo G, Stancampiano MR, Seneviratne SN, Tadokoro-Cuccaro R, Thankamony A, Weintrob N, Zelinska N, Ahmed SF.   +20 more
europepmc   +2 more sources