Results 41 to 50 of about 30,131 (248)

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

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

Study of novel androgen receptor V770 variant in androgen insensitivity syndrome patients reveals the transitional state of the androgen receptor ligand binding domain homodimer

Protein Science, 2023
We report the discovery of the androgen receptor missense mutation V770D, that was found in two sisters suffering from complete androgen insensitivity. Experimental validation of AR V770 variants demonstrated that AR V770D was transcriptionally inactive ...
C. Helsen, M. S. Rocca, T. Nguyen, R. Eerlings, Xiao Yin Lee, Sofie De Block, C. Vinanzi, Francesco Di Millo, V. Giagulli, A. Voet, A. Ferlin, F. Claessens   +11 more
semanticscholar   +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

Complete Androgen Insensitivity Syndrome: From Bench to Bed

International Journal of Molecular Sciences, 2021
Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes.
N. Tyutyusheva, I. Mancini, G. Baroncelli, S. D'Elios, D. Peroni, M. Meriggiola, S. Bertelloni   +6 more
semanticscholar   +1 more source

Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome

Endocrine, 2022
To study differences in metabolic outcomes between testosterone and estradiol replacement in probands with complete androgen insensitivity syndrome (CAIS). In this multicentre, double-blind, randomized crossover trial, 26 women with CAIS were included of
M. Auer, Wiebke Birnbaum, M. Hartmann, P. Holterhus, A. Kulle, Anke Lux, Luise Marshall, Katarina Rall, A. Richter-Unruh, R. Werner, S. Wudy, O. Hiort   +11 more
semanticscholar   +1 more source

Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome

Journal of Endocrinological Investigation, 2022
Background Androgen insensitivity syndrome (AIS) is caused by abnormal androgen receptor (AR) genes that show variable genotypes and phenotypes. However, the correlation between genotype and phenotype is unclear.
Q. Liu, X. Yin, P. Li
semanticscholar   +1 more source

Androgen insensitivity syndrome

Medical Science Case Reports, 2016
Clinical History: A 23 year old female presented with main complain of primary amenorrhea. To rule out mullerien abnormalities, obstetrician sends her for MRI pelvis Final Diagnosis: Complete androgen insensitivity syndrome (testicular feminization syndrome).
Juan Carlos Aviles Cevasco, Rosa Esmeralda Rios Avendano   +1 more
  +4 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   +1 more source

Laparoscopy in inguinal hernia and complete androgen insensitivity syndrome in children. Whether and when to remove the gonads because of cancer?

Studia Medyczne, 2016
Androgen insensitivity syndrome (CAIS) – also called Morris syndrome, formerly known as testicular feminisation syndrome – is a congenital disorder of sex development caused by various mutations in the gene encoding the androgen receptor.
Przemysław Wolak
doaj   +1 more source