androgen insensitivity syndrome
X-linked disorder where individuals with male chromosomes are resistant to androgen action, resulting in female external appearance.
Full Definition
A genetic condition affecting individuals with 46,XY karyotype who have mutations in the androgen receptor gene, resulting in partial or complete inability to respond to testosterone and its metabolites. Complete androgen insensitivity syndrome (CAIS) presents with normal female external genitalia, absent or rudimentary uterus and fallopian tubes, and undescended testes that may be palpable as inguinal masses. Affected individuals typically present with primary amenorrhea at puberty despite normal breast development. Partial androgen insensitivity syndrome (PAIS) shows variable phenotypes ranging from predominantly female to predominantly male external genitalia with degrees of ambiguity. Diagnosis is confirmed through genetic testing and androgen binding studies. Management includes gonadectomy after pubertal development due to malignancy risk and hormone replacement therapy.
Usage
Usage note: Avoid outdated term 'testicular feminization syndrome' in favor of current terminology.
In Context
- "The patient's presentation of primary amenorrhea with normal breast development raised suspicion for androgen insensitivity syndrome." — Clinical assessment
- "Androgen insensitivity syndrome requires sensitive counseling regarding genetic sex versus gender identity." — Patient counseling guidelines