Results 11 to 20 of about 5,072 (157)

Androgen Insensitivity Syndrome

The Nurse Practitioner
ABSTRACT Androgen insensitivity syndrome (AIS) is a genetic disorder impacting 46,XY individuals. It occurs in a complete form, producing a 46,XY female with female genitalia but no internal female reproductive organs; a partial form, producing a 46,XY newborn with genitalia intermediate between the classic male and female types; and ...
Singh S, Ilyayeva S.
europepmc   +4 more sources

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation. [PDF]

Clin Case Rep
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Francesca AM, Serena S, Chiara DB, Angela RM, Basilia P, Marco C, Mattia G, Maddalena RR, Emanuela E, Silvana B, Salvatore C.   +10 more
europepmc   +2 more sources

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   +2 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

Androgen insensitivity syndrome

Current Opinion in Endocrinology, Diabetes & Obesity, 2014
Androgen insensitivity syndrome (AIS) can present with a wide range of phenotypes, and its management requires a multidisciplinary approach from diagnosis in infancy to adulthood. This review provides an update on some clinical and genetic aspects in AIS.
Rieko, Tadokoro-Cuccaro, Ieuan A, Hughes
  +5 more sources