Results 21 to 30 of about 28,940 (212)

Genotype versus phenotype in families with androgen insensitivity syndrome [PDF]

, 2001
Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is ...
Assendelft, C. van, Boehmer, A.L., Brinkmann, A.O., Bruggenwirth, H.T., Brunner, H.G., Drop, S.L., Kleijer, W.J., Kwast, T.H. van der, Niermeijer, M.F., Oostdijk, W., Otten, B.J., Rouwé, C.W., Verleun-Mooijman, M.C.T., Vroede, M.A. de, Waelkens, J.J.   +14 more
core   +12 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

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
  +6 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

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report. [PDF]

Medicine (Baltimore)
Background: Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or androgen synthesis.
Yu T, Liu L.
europepmc   +2 more sources

Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk. [PDF]

Diseases
Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR ...
Fraccascia B, Sodero G, Pane LC, Malavolta E, Gola C, Pane L, Paradiso VF, Nanni L, Rigante D, Cipolla C.   +9 more
europepmc   +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

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

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

Mild Androgen Insensitivity Syndrome presenting in male with infertility and sexual difficulties

Bangladesh Journal of Medical Science, 2023
Androgen insensitivity syndrome has a wide spectrum of presentations. It results from a mutation in androgen receptor (AR) gene. It ranges from mild androgen insensitivity syndrome (MAIS) which is the mildest form to complete androgen insensitivity ...
A. Mukhtar, S. B. Ismail, Azidah Ak, Norhayati Mn, Mohd Yunus N   +4 more
semanticscholar   +1 more source