Androgen insensitivity syndrome

C Sultan, L Gaspari, N Kalfa, F Paris - Genetic steroid disorders, 2023 - Elsevier
After reviewing the mechanisms of androgen action, we will look at the main clinical features
of androgen insensitivity. The diagnosis of CAIS arises usually at puberty, when normal …

Whole‐genome sequencing identifies new candidate genes for nonobstructive azoospermia

A Malcher, T Stokowy, A Berman, M Olszewska… - …, 2022 - Wiley Online Library
Background Genetic causes that lead to spermatogenetic failure in patients with
nonobstructive azoospermia (NOA) have not been yet completely established. Objective To …

ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

A Malcher, Z Graczyk, H Bauer, T Stokowy… - Scientific Reports, 2023 - nature.com
Infertility is a problem that affects approximately 15% of couples, and male infertility is
responsible for 40–50% of these cases. The cause of male infertility is still poorly diagnosed …

Alternative Biological Material for Tissue Engineering of the Vagina: Porcine-Derived Acellular Vaginal Matrix

Y Tian, Y Liu, Y **ao, Z Li, M Zhang, L Chen… - Tissue Engineering and …, 2024 - Springer
Abstract Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a severe
congenital disorder characterized by vaginal hypoplasia caused by dysplasia of the …

Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome

K Wang, Q Wang, J Chen, Y Wang, X Ma - Reproductive Sciences, 2022 - Springer
Androgen insensitivity syndrome (AIS) is a rare X-linked genetic disorder caused by
mutations in the androgen receptor (AR) gene. AIS can be divided into partial type (PAIS) …

Identification of potential genes in pathogenesis and diagnostic value analysis of partial androgen insensitivity syndrome using bioinformatics analysis

Y Peng, H Zhu, B Han, Y Xu, X Liu, H Song… - Frontiers in …, 2021 - frontiersin.org
Background Androgen insensitivity syndrome (AIS) is a rare X-linked genetic disease and
one of the causes of 46, XY disorder of sexual development. The unstraightforward …