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- Ahead-of-Print
Complete Androgen Insensitivity Syndrome: A Case Report and Literature Review
摘要
Background: Androgen insensitivity syndrome, one of the most common cause of disorder of sex development in 46, XY karyotype people, is an X-linked disease indicated by androgen receptor gene mutation. Methods: We reported a 16-year-old 〞phenotypic female〞 with complete androgen insensitivity syndrome who received laparoscopic orchiectomy and estrogen replacement therapy. Results: A 16-year-old 〞phenotypic female,〞 accompanied to our endocrinology clinic by her grandmother, denied any systemic disease before diagnosis with complete androgen insensitivity syndrome. She visited the clinic due to amenorrhea, and she did not complain any other discomfort. Physical examination showed fair breast development (Tanner stage IV-V) and absence of pubic and axillary hair (Tanner stage I). Luteinizing hormone (44.53 mIU/mL), follicle stimulating hormone (46.3 mIU/mL) and testosterone (5.47 ng/mL) all were higher than normal for females in in her age range. Genetic testing was conducted, and karyotype revealed 46 XY. Abdominal CT revealed testes at the lateral aspect of the bilateral pelvic cavity and no sign of uterus, so she was transferred to the division of urology. Laparoscopic orchiectomy was performed for prevention of testicular carcinogenesis. After surgery, estrogen replacement therapy was provided to maintain her female secondary sexual characteristics. Conclusions: Although almost all patients with complete androgen insensitivity syndrome receive gonadectomy and hormone replacement therapy after surgery, but the timing of gonadectomy is still controversial. Delaying the operation is now more common because the risk of tumor of the testes with complete androgen insensitivity syndrome is low before puberty.