| Abstract [eng] |
Objective. To describe a case of a 46,XY teenage girl with complete androgen insensitivity syndrome and review the scientific literature about the prevalence, clinical features, diagnostic methods, and possible treatment strategies for this syndrome. Methodology. A clinical case was described and analysed. A scientific literature search was conducted using the PubMed and Scopus databases. Keywords were used for the literature search, and after applying inclusion and exclusion criteria, 55 publications were selected for the literature review. The Zotero reference management program was used to organise and cite the selected articles. Clinical case report. A 16-year-old patient was referred to an OB-GYN for consultation regarding primary amenorrhea. A clinical examination, hormonal blood tests, gynecological examination, and transabdominal ultrasound were performed, revealing uterine and cervical aplasia and ovarian hypoplasia. To confirm the diagnosis, routine karyotyping was performed, which revealed a 46,XY karyotype. Based on clinical and laboratory data, suspicion of complete androgen insensitivity syndrome was made. After that, AR gene sequencing was performed, revealing a pathogenic variant in the AR gene. Gonadectomy was recommended to the patient, but she refused the prophylactic surgery. To evaluate the patient's gonads, an MRI was performed, which revealed testis-like gonads with adjacent cystic formations. Conclusion. Complete androgen insensitivity syndrome is most commonly diagnosed in adolescents who present with primary amenorrhea. There are no universal and updated guidelines for the diagnosis and treatment of patients with androgen insensitivity syndrome. The diagnosis of CAIS involves clinical examination, ultrasound of the internal genital organs, MRI, and genetic testing. Genetic testing helps to differentiate CAIS from other disorders of sex development. The risk of gonad malignancy in CAIS patients is low. The need for gonadectomy is controversial, gonadectomy is recommended after natural puberty. After gonadectomy, patients should receive hormone replacement therapy and be monitored by an OB-GYN. |
