Testicular position in the androgen insensitivity syndrome: Implications for the role of androgens in testicular descent

Purpose: We compared testicular position with genital phenotype in a clinic al series and a literature review of androgen receptor mutations to assess the role of androgens in testicular descent. Materials and Methods: Our clinical reports, the androgen receptor mutation s database and selected literature were reviewed. Subjects with a proved an drogen receptor mutation were included in our study when a female or ambigu ous phenotype was present (Quigley grade 3 to 7) and testicular position wa s documented. Comparison among groups was done by Fisher's exact or chi-squ are test. Results: Of the 7 patients with detailed clinical records 5 had abdominal ( bilateral in 4) and 2 had bilateral inguinal testes. Four patients with abd ominal testes also had aberrant pelvic ligaments extending medially from th e gonads. Including an additional 102 cases identified in the literature, a bdominal testes were present in 52% and 3% of those with complete and parti al androgen insensitivity, respectively. The incidence of abdominal testes was highest (86%) in patients with a complete female phenotype and no pubic hair (grade 7). It decreased significantly with increasing masculinization and was higher in phenotypic females diagnosed at or after (67%) than in t hose identified before (22%) puberty. Hernia was associated with inguinal a nd abdominal testes. Conclusions: Testicular position correlates with genital phenotype in patie nts with androgen receptor mutations, supporting a major role for androgens in testicular descent. Inguinal hernia and abnormal pelvic ligaments in th ese individuals may partially determine testicular position but to our know ledge the role of androgen receptors, if any, in their development is unkno wn.