KMID : 0605920060120010047
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Journal of Korean Association of Pediatric Surgeons 2006 Volume.12 No. 1 p.47 ~ p.52
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Complete Testicular Feminization Syndrome: a Case Report
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Cho Ma-Hae
Nam Eun-Suk
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Abstract
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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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KEYWORD
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Testicular feminization syndrome, Androgen insensitivity syndrome, Inguinal hernia
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