Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes

To report on six cases of the diagnosis and treatment of patients with complete androgen insensitivity syndrome (CAIS) and a review of the relevant published work.

A retrospective analysis was performed on the clinical features, diagnosis and treatment of a total of six patients with CAIS who were admitted to our hospital between September 1985 and June 2012. All surgical patients were examined for sex chromosomes and sex hormone levels pre- and postoperatively, respectively, and underwent lower abdominal B ultrasounds and pathological examinations among other tests.

Five of the patients were treated with castration, one patient aged 5 years was treated conservatively Tissue from surgical resections showed normal testicular tissue that comprised Leydig cells and Sertoli cells, and pathological examinations showed no sign of testicular cancer. Following corrective operations, postoperative complications, such as female secondary sexual characteristics, stagnation and osteoporosis, have not developed. Sex hormone level ratio changed significantly after being treated with castration compared with preoperative levels; mainly testosterone and estrogen decreased significantly (P < 0.05), while luteinizing hormone and follicle-stimulating hormone significantly increased (P < 0.05). However, prolactin did not change significantly (P > 0.05).

The study show that removal of the testes in CAIS patients after puberty is safe and reliable. Meanwhile, it is essential to provide a hormone drug after being treated with castration. Further studies are needed to evaluate the safety and the quality of life for CAIS patients.