نتایج جستجو برای: insensitivity syndrome
تعداد نتایج: 626376 فیلتر نتایج به سال:
BACKGROUND The androgen insensitivity syndrome (AIS) is a disease connected with the inactivation of AR due to a mutation that inactivate male sexual differentiation, and causes a spectrum of phenotypic anomalies having as a common aspect the loss of reproductive characteristics. PATIENTS In this paper the clinical, endocrinological and molecular features of three patients are reported. The f...
Androgen insensitivity syndrome (AIS) is caused by mutations in the gene encoding the androgen receptor (AR). The incidence of AIS is estimated to be 1 in 99,000. Complete androgen insensitivity syndrome (CAIS) is characterized by a 46,XY karyotype with external genitalia that appear typically female and results from mutations that render the androgen receptor non-functional. Partial androgen i...
•A seminoma developed in a patient with androgen insensitivity syndrome.•The patient had a de novo androgen receptor mutation.•Proper management of AIS, including appropriate genetic counseling, is necessary.
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