J Korean Assoc Pediatr Surg.  2006 Jun;12(1):47-52.

Complete Testicular Feminization Syndrome: a Case Report

• Cho MH
• Nam ES

Abstract

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.

Keyword

Testicular feminization syndrome; Androgen insensitivity syndrome; Inguinal hernia

MeSH Terms

Adolescent
Amenorrhea
Androgen-Insensitivity Syndrome*
Child
Diagnosis
Dihydrotestosterone
Female
Genitalia
Hernia, Inguinal
Humans
Infant
Karyotype
Ligation
Male
Ovary
Testis
Testosterone
Uterus
Dihydrotestosterone
Testosterone