patologie legate al gene del recettore degli androgeni

The androgen receptor (AR) gene is associated with a spectrum of pathologies primarily involving disorders of reproductive and endocrine systems, as well as certain cancers characterized by dysregulated androgen signaling.

1. Polycystic Ovary Syndrome (PCOS): The AR gene is implicated in PCOS, a prevalent endocrine disorder in women characterized by hyperandrogenemia (HA), ovulatory dysfunction, and polycystic ovarian morphology. Dysregulated androgen receptor signaling contributes to follicular development disruption, ovulatory failure, and metabolic abnormalities in PCOS. Bioinformatics analyses have identified hub androgen-related genes including AR itself, showing differential expression in PCOS patients; AR signaling pathways intersect with steroid hormone biosynthesis and ovarian steroidogenesis. Moreover, aberrant AR function in ovarian granulosa cells influences folliculogenesis and contributes to PCOS pathogenesis He et al. 2026.

2. Adenomyosis: Although primarily driven by estrogenic pathways, adenomyosis involves interplay with androgen receptor signaling distinct from related uterine pathologies. AR expression distinguishes adenomyosis from uterine leiomyomas and endometriosis. In adenomyosis and endometriosis (endometrium-derived pathologies), AR expression is often downregulated in ectopic tissues, removing an anti-proliferative brake on estrogen-driven tissue expansion, whereas in leiomyomas, AR is frequently overexpressed and acts synergistically with estrogen to promote tumor growth. Thus, loss or altered androgen receptor signaling contributes to the uncontrolled growth and hormonal dysregulation characteristic of adenomyosis and endometriosis Yang et al. 2026.

3. Prostate Cancer and Neuroendocrine Differentiation: The AR gene plays a central role in prostate cancer pathophysiology. Neuroendocrine prostate cancer (NEPC), an aggressive subtype, shows transcriptional heterogeneity in relation to AR signaling. Classical small and large cell neuroendocrine carcinomas of the prostate typically lack AR activity, whereas focal neuroendocrine differentiation (NED) and amphicrine carcinomas maintain AR expression alongside neuroendocrine markers. Focal NED cells co-express AR signaling and neuroendocrine markers, representing a distinct molecular entity. Genetic clonal analyses reveal that in mixed small cell neuroendocrine and adenocarcinoma tumors, neuroendocrine and adenocarcinoma components are genetically distinct and diverge in AR expression status. These findings emphasize that AR gene's expression and signaling status delineate subtypes of prostate neoplasms with distinct transcriptional programs and clinical implications Quezada Urban et al. 2025.

4. Androgen Insensitivity Syndrome (AIS): Mutations in the androgen receptor gene cause AIS, a condition characterized by partial or complete resistance to androgens, resulting in a spectrum of phenotypes from undermasculinized genitalia to complete female external genitalia in genetically male individuals Mongan et al. 2015.

In summary, pathologies associated with the AR gene include androgen insensitivity syndrome, PCOS through dysregulated androgen signaling affecting ovarian function, adenomyosis characterized by altered AR expression contributing to uterine pathology divergent from leiomyomas and endometriosis, and distinct subtypes of prostate cancer where AR status modulates tumor phenotype and progression. These diverse pathologies underscore the AR gene’s critical role in mediating androgen effects across different tissues and diseases.