ESPE Abstracts

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by mutation in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a crucial role in male sexual differentiation and development. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male shows some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report a patient of complete AIS who showed complete sex reversal from male to female as a result of novel AR mutation. A 2-month-old girl was referred to our hospital for evaluation of inguinal masses. Pelvis sonography revealed that there was no uterus, and testicle-like masses were found in both lower inguinal areas. The patient’s karyotype was 46,XY. Genetic analysis of AR, SRY and SRD5A2 was performed, and a hemizygous novel mutation (c.2242T>C, p.Phe748Leu) was identified in AR. No mutations were found in SRY and SRD5A2, respectively. Family screening for genetic counseling was performed, and the same AR mutation was also found in the mother. For individuals with AIS, the standard of care is an orchidectomy to prevent possible malignant degeneration of the testes. The timing of such surgery has been debated. Later orchidectomy allows pubertal development to occur spontaneously with the production of estrogen from the aromatization of the high levels of testosterone normally produced. In our patient, gonadectomy is planned after puberty. Individuals with complete AIS are usually raised as females and need appropriate care.