Results 1 to 10 of about 310 (97)

Androgen insensitivity syndrome [PDF]

Lancet, The, 2012
The androgen insensitivity syndromes (AIS) fall within the generic category of 46,XY DSD (disorder of sex development) and present as phenotypes associated with complete or partial resistance to the action of androgens. Three categories are recognized: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), mild
Ieuan A Hughes, Vickie Pasterski, Jane Macdougall   +2 more
exaly   +9 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   +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   +3 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   +4 more sources

Complete Androgen Insensitivity Syndrome [PDF]

The Journal of Obstetrics and Gynecology of India, 2012
Complete androgen insensitivity syndrome (AIS) is a medical condition which affects the development of the genital and reproductive system. This raises some very uncomfortable issues about gender identity that are difficult to put into words. The first medical report on AIS was published in 1953 by J. M. Morris, an American gynecologist.
Hemant, Deshpande, Shilpa, Chaudhari, Shivani, Sharma   +2 more
openaire   +2 more sources

Androgen insensitivity syndrome

Best Practice & Research Clinical Endocrinology & Metabolism, 2015
Androgen insensitivity syndrome (AIS) results from androgen receptor dysfunction and is a common cause of disorder of sex development. The AIS phenotype largely depends on the degree of residual androgen receptor (AR) activity. This review describes the molecular action of androgens and the range of androgen receptor gene mutations, essential knowledge
Nigel P, Mongan, Rieko, Tadokoro-Cuccaro, Trevor, Bunch, Ieuan A, Hughes   +3 more
  +5 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   +1 more source

Androgen insensitivity syndrome.

European review for medical and pharmacological sciences, 2018
We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated developmental anomalies and the genetic alterations causing it.We searched PubMed with a larger emphasis on the physiology, genetics and current management of AIS.AIS is an X-linked recessive Disorder of Sex Development (DSD). It is caused by
Gulía, C, Baldassarra, S, Zangari, A, Briganti, V, Gigli, S, Gaffi, M, Signore, F, Vallone, C, Nucciotti, R, Costantini, FM, Pizzuti, A, Bernardo, S, Porrello, A, Piergentili R   +13 more
openaire   +5 more sources

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
doaj   +1 more source

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
openaire   +2 more sources