Malignant Testicular Germ Cell Tumor in Late Adolescent With Androgen Insensitivity Syndrome [26B

Abstract

INTRODUCTION: Androgen receptor mutations located in the X chromosome may present as several clinical disorders. When total function of the androgen receptor is loss in a male, complete androgen insensitivity syndrome develops. A phenotypically normal appearing female develops without uterus, fallopian tubes, short vagina and bilateral intraperitoneal testes. Germ cell neoplasia may develop and the risk of developing malignant germ cell tumor is approximately a 5% that gradually increases after puberty. Although gonadectomy is the actual management, there is no consensus about the specific timing for gonadectomy or risk of developing malignant germ cell tumor by age. METHODS: IRB, Consent. RESULTS: 15-year-old girl with primary amenorrhea, no relevant medical history and Tanner stage four for breast and pubic hair. Complete androgen insensitivity syndrome was diagnosed by means of transabdominal ultrasound, normal male testosterone levels and karyotype 46XY. Laparoscopic gonadectomy was performed at 18-year-old due to loss of follow up. Pathology with immunohistochemistry reported bilateral germ cell neoplasia in situ and unilateral seminoma. CONCLUSION: This case presents with an early development of a seminoma and appoints to reconsider an earlier post pubertal gonadectomy. A 30% risk of developing malignant germ cell tumor in late adulthood also supports the decision for an earlier gonadectomy. This case challenges the typical presentation of a female patient with complete androgen insensitivity syndrome, due to a clinical presentation with adequate tanner stage development. Considerations must be taken into account when dealing with a non-compliant patient, addressing the traditional timeline management to a more individualized clinical evaluation and prompt management.