Impact of Androgen Receptor Repeat Length on Receptor Function in Mutation-Negative Patients
Project no. 32293 · Status: Kapanmış (Yayın bekleniyor) · 2024
Summary
<p>Androgen insensitivity syndrome (AIS) is one of the most common causes of disorders of sex development in individuals with a 46,XY karyotype. The number of CAG repeats in the androgen receptor (AR) gene has been suggested to influence receptor function and contribute to phenotypic variability. In this study, the relationship between CAG repeat polymorphism and external genitalia phenotype was investigated in 15 patients with ambiguous genitalia in whom no pathogenic variant was detected in the AR gene. External genitalia were scored using the External Genitalia Score (EGS), genital tubercle lengths were measured, and hormonal profiles were evaluated.</p><p>Statistical analysis revealed no significant correlation between CAG repeat length and external genitalia score (r = -0.105, p = 0.71) or genital tubercle length (r = -0.150, p = 0.59). In contrast, a strong positive correlation was found between external genitalia score and genital tubercle length (r = 0.68, p < 0.01). Additionally, grouping by CAG repeat length did not yield statistically significant differences in genital scores (p = 0.82). These findings suggest that CAG repeat polymorphism alone is not a determining factor in the ambiguous genitalia phenotype. It is concluded that genotypic-phenotypic correlation in AIS must be interpreted within the context of hormonal, epigenetic, and environmental interactions.</p><p><strong>Keywords: </strong>Androgen receptor; Androgen insensitivity syndrome; Repeat length</p>