Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.
Level 5 - mechanism / opinion, no new human data
Narrative review synthesizing existing literature without systematic review methodology
PubMed 41163677 · doi:10.3389/fendo.2025.1600343
What was done
This is a narrative review summarizing the molecular pathogenesis, pathophysiology, diagnostic workflows, differential diagnosis, and clinical management strategies for complete androgen insensitivity syndrome (CAIS).
What was found
The abstract reports no quantitative data or specific numerical findings. It describes the pathophysiology of CAIS as an X-linked recessive androgen receptor (AR) gene mutation causing female external phenotypes in individuals with a 46,XY karyotype and functional testes. It outlines standard endocrine profiles (normal-to-elevated testosterone, elevated luteinizing hormone, normal follicle-stimulating hormone), key differential diagnoses, and management components including gonadectomy, hormone replacement therapy, and psychological counseling.
Why it matters
The review provides a structured overview of the molecular mechanisms, diagnostic challenges, and multidisciplinary management needs for a rare disorder of sex development.
Limits
As a narrative review, it introduces no new empirical data or systematic search protocol. Exact incidence rates, quantitative diagnostic accuracy metrics, and specific risks of gonadal malignancy are not reported in the abstract.
Cited by
- supports In complete androgen insensitivity syndrome, XY individuals have testes producing anti-Müllerian hormone (preventing uterus and oviduct formation), elevated testosterone, and typical female external genitalia.