WOFAPS 2025 8th World Congress of Pediatric Surgery

Jie Liu

Children's Hospital, Zhejiang University School of Medicine, Zhejiang Province, China

Abstract: Objective: To explore the clinical characteristics of complete androgen insensitivity syndrome (CAIS) and management strategies for patients of different ages. Three typical cases were selected to enhance understanding and treatment level of this disease. Methods: Three CAIS patients of different age groups were admitted to our hospital between 2021 and 2023. Case 1 late adolescence was 16 years and 11 months old, case 2 young children was 1 year and 8 months old, and case 3 middle adolescence was 13 years and 1 month old.A11 the initial diagnoses,the gender identity all were female. Cases 1 and 3 sought medical consultation due to the absence of menarche to date.Case 2 young child visited the hospital due to abnormal gonads discovered during the surgery for inguinal hernia.The diagnosis was confirmed by analyzing their clinical features, six sex hormone tests, chromosomal karyotype analysis (46XY), pelvic ultrasound (vaginal blind end, no uterus or ovaries), and AR gene testing.The treatment plan was developed by the multidisciplinary team (MDT) based on external genital Prader scores (0 points), external genital masculinization scores (EMS 1-2 points), sexual psychological assessment results, and family preferences. Results: A11 three patients presented with female external genitalia, vaginal blind end, no uterus or ovaries, and mutations in the androgen receptor AR gene. In cases 1 and 3, the testosterone levels during the puberty stage were significantly higher than those of normal females. The levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were also elevated. In case 3, the testosterone level in the young child was within the normal range, while the luteinizing hormone (LH) was slightly elevated.After psychological evaluation and MDT discussion, the current gender was maintained for al1 three patients. Case 1 underwent laparoscopic bilateral gonadectomy and the postoperative pathology was: underdeveloped testicular tissue (left and right gonds)，and hormone replacement therapy was provided after the operation.Case 2 underwent laparoscopic exploration Surgical + bilateral gonadal biopsy and the postoperative pathology (left and right gonadal biopsies) was testicular tissue with germ cel1 hyperplasia in the region tubules.Follow up ultrasound monitoring of gondal size, reexamination of sex hormone levels, and tumor markers every 6 months. Case 3 has not undergone gonadectomy yet,every six months, monitor gonadal size, tumor markers，provide psychological support and regularly check bone density and cardiovascular health. Conclusion: The management of CAIS should be individalized based on the patient^,s age, tumor risk, and the wishes of the patient and family. A dynamic management model involving multidisciplinary teams should be established, with enhanced long-term physiological and psychological follow ups to improve the long-term quality of life for children. Literature reports that early gonadectomy can reduce the risk of testicular malignancy (approximately 5-10%), followed by estrogen replacement therapy postoperatively. Various data indicate that post-pubertal gonadectomy is the best surgical timing to ensure natural development during puberty and avoid drug-induced treatment during puberty.