Androgen Insensitivity Syndrome

History 1817: 1st report of a woman with un-descended testes by a Dr. Diefferbach 1st provided evidence of a hereditary pattern. 1937: Dr. discovered any female with AIS was genetically male. 1993: Anne Fausto-Sterling proposed a pan for 5 gender categories.

Symptoms No extragenital abnormalities. Two nondysplastic testes. (are inside body) No fallopian tubes, uterus, and cervix but a short vagina. Undermasculinization of extra genetalia at birth. (very little or no male parts.) Impaired spermatogenesis and/or somatic virilization at puberty. (no production of sperm or egg)

Inheritance Usually from the mother with an altered copy of the carrier AR gene. 46XY Karytype and affected. 46XY Karytype and unaffect. 46XX Karytype and a carrier. 46XX Karytype and not a carrier.

It affects 2 to 5 per 100,000 people who are genetically male. Frequency It affects 2 to 5 per 100,000 people who are genetically male.

Locus Mutations in the AR gene. usually the AR gene provides instructions for making a protein called an androgen receptor. Mutations prevent androgen receptors from working properly, and prevents cells from using the hormones properly.

It affects sexual development before birth and during pregnancy. Age of Onset It affects sexual development before birth and during pregnancy.

Males (genetically) with a mutation in the X- chromosome. Affected Groups Males (genetically) with a mutation in the X- chromosome.

Treatment Hormone Replacement Therapy Mostly consists of estrogen replacement. Psychological Support Parents are the biggest client for support. Surgical Care Vaginal lengthening or orchidectomy. (remove a testicle and spermatic cord.)

Prognosis For complete AIS, it’s good if at risk testicular tissue is removed at the right time. The outlook for incomplete AIS depends on the presence and severity of ambiguous genitalia.

Celebrity Cases Chaz Bono Jamie Lee Curtis