Successful Virilization of a PAIS Patient with a Missense Mutation in the Ligand-Binding Domain of the Androgen Receptor Using Combined High-Dose Testosterone and Aromatase Inhibitor

The study documented the successful virilization of a boy with partial androgen insensitivity syndrome (PAIS) due to a hemizygous missense mutation in the androgen receptor (AR). The treatment combined high-dose testosterone with an aromatase inhibitor, anastrozole. Initially, the patient, evaluated at age 7, had undergone unsuccessful surgeries and had a penile length of 2 cm. By age 12.3, after completing genital surgeries and receiving testosterone and DHT gel, his penile length increased to 3.5 cm. Following 6 months of the combined treatment, his penile length further increased to 7.0 cm, with improved testicular size and pubic hair development, and no gynecomastia. The hormonal profile showed increased testosterone and DHT levels, with decreased LH and FSH levels, and stable estradiol levels. Bone age did not advance during treatment, indicating the treatment's effectiveness in promoting virilization without accelerating bone maturation.