Complete androgen insensitivity syndrome: from bench to bed

N Tyutyusheva, I Mancini, GI Baroncelli… - International journal of …, 2021 - mdpi.com
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 …

[HTML][HTML] Androgen insensitivity syndrome: a review

RL Batista, EMF Costa, AS Rodrigues… - … of endocrinology and …, 2018 - SciELO Brasil
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 …

Androgen insensitivity syndrome: a review

E Delli Paoli, S Di Chiano, D Paoli, A Lenzi… - Journal of …, 2023 - Springer
Purpose Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral
androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype …

Novel and recurrent mutations in patients with androgen insensitivity syndromes

S Ledig, S Jakubiczka, J Neulen, U Aulepp… - Hormone Research in …, 2005 - karger.com
Abstract Background/Aims: Androgen insensitivity syndrome (AIS) caused by mutations
within the androgen receptor gene represents a variety of phenotypes from females with 46 …

[HTML][HTML] Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative …

P Philibert, F Audran, C Pienkowski, I Morange… - Fertility and sterility, 2010 - Elsevier
OBJECTIVE: To confirm the clinical diagnosis of complete androgen insensitivity syndrome
(CAIS) by molecular genetic analysis and to determine the prevalence of exon 1 mutations …

Androgen insensitivity syndrome

N Mendoza, MA Motos - Gynecological Endocrinology, 2013 - Taylor & Francis
Androgen insensitivity syndrome (AIS) is a disorder caused by a mutation of the gene
encoding the androgen receptor (AR; Xq11–q12). The prevalence of AIS has been …

Androgen insensitivity syndrome: clinical features and molecular defects

A Galani, S Kitsiou-Tzeli, C Sofokleous, E Kanavakis… - Hormones, 2008 - Springer
The end-organ resistance to androgens has been designated as Androgen Insensitivity
Syndrome (AIS), an X-linked disorder caused by mutations in the Androgen Receptor (AR) …

Different clinical presentations and management in complete androgen insensitivity syndrome (CAIS)

L Lanciotti, M Cofini, A Leonardi, M Bertozzi… - International journal of …, 2019 - mdpi.com
Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder
resulting from maternally inherited or de novo mutations involving the androgen receptor …

[PDF][PDF] Androgen insensitivity syndrome: clinical phenotype and molecular analysis in a single tertiary center cohort

MS Touzon, NP Garrido, R Marino… - Journal of clinical …, 2019 - jag.journalagent.com
Objective: The aim of this study was the molecular characterization of the AR gene as the
cause of 46, XY disorder in our population. Methods: We studied 41, non related, 46, XY …

[PDF][PDF] Complete androgen insensitivity syndrome

A Hashmi, F Hanif, SM Hanif, FE Abdullah… - J Coll Physicians Surg …, 2008 - jcpsp.pk
ABSTRACT The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1
in 20,000. People with CAIS are normal appearing females, despite the presence of testes …