Testicular feminization: the androgen insensitivity syndrome. 1992

R Shah, and M M Woolley, and G Costin
Division of Pediatric, Children's Hospital of Los Angeles, CA 90027.

Testicular feminization (TF) is a syndrome due to androgen insensitivity. It occurs in a complete (CTF) and an incomplete (ITF) form. We have treated 21 patients with TF over the last 24 years. Eight patients presented because of ambiguous genitalia, seven presented as "females" with inguinal hernia and testes were found at surgery, five were diagnosed by karyotyping performed for a family history of TF, and one presented with an incarcerated hernia and primary amenorrhea. Two patients had prior surgery for inguinal hernia but the diagnosis was not recognized. All patients had a 46,XY karyotype. Patients with CTF were phenotypically female while those with ITF had a variable appearance of the external genitalia depending on the degree of androgen insensitivity. Seventeen patients underwent gonadectomy and one patient planned for delayed gonadectomy was lost to follow-up. Seventeen patients had been raised as females since birth. One patient with ambiguous genitalia, who was initially raised as a male, was reassigned female gender at 1 year of age when the diagnosis of ITF was made. Three patients were raised as males even after the diagnosis of ITF was made. Patients raised as males underwent multiple genital reconstructive procedures with poor results. In view of the poor anatomic and functional results of genital reconstructive surgery and the consequent psychological problems, patients with TF should be raised as female. Careful evaluation of infants with ambiguous genitalia and documentation of absent fallopian tubes in "females" presenting with inguinal hernia will lead to early diagnosis of TF, correct sex assignment, and early gonadectomy.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D011944 Receptors, Androgen Proteins, generally found in the CYTOPLASM, that specifically bind ANDROGENS and mediate their cellular actions. The complex of the androgen and receptor migrates to the CELL NUCLEUS where it induces transcription of specific segments of DNA. Androgen Receptors,5 alpha-Dihydrotestosterone Receptor,Androgen Receptor,Dihydrotestosterone Receptors,Receptor, Testosterone,Receptors, Androgens,Receptors, Dihydrotestosterone,Receptors, Stanolone,Stanolone Receptor,Testosterone Receptor,5 alpha Dihydrotestosterone Receptor,Androgens Receptors,Receptor, 5 alpha-Dihydrotestosterone,Receptor, Androgen,Receptor, Stanolone,Stanolone Receptors,alpha-Dihydrotestosterone Receptor, 5
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D005500 Follow-Up Studies Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease. Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D005835 Genitalia The external and internal organs involved in the functions of REPRODUCTION. Accessory Sex Organs,Genital Organs,Sex Organs, Accessory,Genital System,Genitals,Reproductive Organs,Reproductive System,Accessory Sex Organ,Genital,Genital Organ,Genital Systems,Organ, Accessory Sex,Organ, Genital,Organ, Reproductive,Organs, Accessory Sex,Organs, Genital,Organs, Reproductive,Reproductive Organ,Reproductive Systems,Sex Organ, Accessory,System, Genital,System, Reproductive,Systems, Genital,Systems, Reproductive
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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