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Complete androgen insensitivity syndrome [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2015
Introduction. Androgen insensitivity syndrome (AIS) belongs to disorders of sex development, resulting from complete or partial resistance to the biological actions of androgens in persons who are genetically males (XY) with normally developed ...
Tančić-Gajić Milina, Vujović Svetlana, Ivović Miomira, Marina Ljiljana V., Arizanović Zorana, Raković Dragana, Micić Dragan   +6 more
doaj   +3 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 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

Complexities of complete androgen insensitivity syndrome: insights from a case report and literature review. [PDF]

J Int Med Res
Complete androgen insensitivity syndrome (CAIS) presents significant challenges in the accurate diagnosis and personalized management of individuals with a 46, XY karyotype who exhibit a female phenotype due to complete insensitivity to androgens.
Asanidze E, Kristesashvili J, Asanidze A, Jibladze A, Gaphrindashvili G, Asanidze B, Bhatia R.   +6 more
europepmc   +2 more sources

[Androgen insensitivity syndrome].

Nihon rinsho. Japanese journal of clinical medicine, 2006
In a relatively short period of time, understanding of the fundamental causes of androgen insensitivity syndromes has improved dramatically. This has been brought about by the combination of several disciplines, including endocrinology, genetics ...
Shinji, Komori, Kyoko, Uchida
semanticscholar   +4 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

Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature [PDF]

Journal of Medical Case Reports
Background Complete androgen insensitivity syndrome is caused by inactivated mutations in the androgen receptor gene, which results in complete androgen resistance and a female phenotype with a 46,XY karyotype. This condition is rare in twins.
Kangji Liao, Ying Wang, Xianlin Yi
doaj   +2 more sources

Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant. [PDF]

BMC Med Genomics
Androgen insensitivity syndrome (AIS) is a rare genetic disorder characterized by resistance to androgens, mainly due to mutations in the androgen receptor (AR) gene. It can manifest as complete AIS, partial AIS and mild AIS.
Geng H, Tang D, Li K, Xu C, Wang C, Zhang X, He X, Cao Y.   +7 more
europepmc   +2 more sources

Potential risk of inguinal hernia in complete androgen insensitivity syndrome. [PDF]

Clin Pediatr Endocrinol, 2023
Complete androgen insensitivity syndrome (CAIS) presents as female external genitalia despite elevated serum testosterone levels and an XY karyotype, because of compromised androgen action owing to androgen receptor (AR) defects (1).
Kimizuka Y, Sato T, Nakano S, Ishii T, Hasegawa T.   +4 more
europepmc   +2 more sources