Results 1 to 10 of about 30,274 (252)

The challenges of androgen insensitivity syndrome. [PDF]

Arch Med Sci, 2022
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.
Ovidiu B, Marcu DR, Mischianu DLD, Poiana C, Diaconu CC, Bungau SG, Tit DM, Cumpanas A, Bohiltea R.   +8 more
europepmc   +5 more sources

An Early Case of Complete Androgen Insensitivity Syndrome. [PDF]

J Investig Med High Impact Case Rep, 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.
Matalka L, Dean SJ, Beauchamp G, Sunil B.   +3 more
europepmc   +5 more sources

Androgen insensitivity syndrome: a review [PDF]

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   +6 more sources

Bilateral Breast Phyllodes Tumor in Androgen Insensitivity Syndrome. [PDF]

Surg J (N Y), 2023
Phyllodes is a rare tumor found exclusively in females. It can be classified into benign, intermediate, or malignant variety based on the aggressive nature of the disease.
Dutt AS, Bakhshi G, Sabale C, Landge R, Baligar S, V R, Jha M, Joshi S, Teja CR.   +8 more
europepmc   +3 more sources

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   +4 more sources

Partial Androgen Insensitivity Syndrome [PDF]

AMA Journal of Ethics, 2005
Physicians need to take a multispecialty health care team approach to treat an infant with partial androgen insensitivity syndrome and design a careful treatment plan with the informed input of the child's parents. Virtual Mentor is a monthly bioethics journal published by the American Medical Association.
William G. Reiner, David A. Diamond, Tammy Camp, Surendra K. Varma   +3 more
openalex   +4 more sources

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

J Med Case Rep
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.
Liao K, Wang Y, Yi X.
europepmc   +2 more sources

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family [PDF]

BMC Research Notes, 2011
Background The androgen insensitivity syndrome may cause developmental failure of normal male external genitalia in individuals with 46,XY karyotype.
Guerra-Junior Gil, de Calais Flávia L, Soardi Fernanda C, Maciel-Guerra Andréa T, Petroli Reginaldo J, de Mello Maricilda   +5 more
doaj   +2 more sources

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing. [PDF]

Appl Clin Genet
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
europepmc   +2 more sources

Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome

Journal of Human Reproductive Sciences, 2014
Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype in an individual with an XY karyotype. The pathogenesis of CAIS involves a defective androgen receptor gene located on X-chromosome at Xq11 ...
G Bhaskararao, Y Himabindu, Samir Ranjan Nayak, M Sriharibabu   +3 more
doaj   +2 more sources