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 …

Objectives. To evaluate the characteristics of presentation, biochemical profile, and etiology
of gynecomastia in adults. Methods. Medical records of 237 men aged 18‐85 years with …

Considering that children and adults with DSD may be at risk of several comorbidities a
clear aetiological diagnosis will guide further management. To date, a firm diagnosis is not …

Androgens are responsible for the development and maintenance of male sex
characteristics. Dysfunctions in androgen action due to mutations in the androgen receptor …

Background: Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46, XY
disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in …

Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex
development, is caused by mutations in the androgen receptor (AR) gene, and is …

Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the
NR3C4 gene, which encodes the androgen receptor (AR). In this study, we performed …

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various
abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone …

With advancing maternal age, the number of prenatal genetic tests is increasing in many
countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non …

Las anomalías de la diferenciación sexual son consecuencia de alteraciones congénitas en
la diferenciación sexual, normalmente femenina o masculina. Dentro de estas, el síndrome …