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"Androgen insensitivity syndrome"

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[English]
Complete Testicular Feminization Syndrome: a Case Report
Ma Hae Cho, Eun Sook Nam
J Korean Assoc Pediatr Surg 2006;12(1):47-52.   Published online June 30, 2006
DOI: https://doi.org/10.13029/jkaps.2006.12.1.47

Testicular feminization syndrome (TFS) is a genetic disorder due to androgen insensitivity of the target organs. The most common clinical presentation of complete TFS is inguinal hernia in the infant or primary amenorrhea in the adolescence. A 7-year old phenotypically female patient was seen with a complaint of a right inguinal mass. Under the diagnosis of right inguinal hernia, high ligation was performed. Six months later, the patient showed a left inguinal mass. On operation, the mass looked like a testis. The external genitalia were normal female, but a uterus and ovary were not identified. Chromosome study showed a 46, XY karyotype and the levels of serum testosterone and dihydrotestosterone were increased after HCG stimulation. The patient was diagnosed as complete TFS and underwent bilateral gonadectomy 6 months later.

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