These genotypic male patients are phenotypic
females. Anatomically, they have normal female external genitalia but a
blind-ending vaginal pouch and absent uterus and fallopian tubes. The testes
usually are located intraabdominally, in the inguinal canal, or in the
labia. Leydig cells appear hyperplastic and form adenomatous clumps. Primary amenorrhea
and scant pubic and axillary hair contrast with well developed female personality and body shape (including breasts). Patients often appear tall for females, and
the clinical signs result from high estrogen levels. Other features include inguinal
hernia and an increased risk of testicular malignancies (Sertoli cell adenomas,
seminomas, malignant sex-cord stromal tumor) after 25 years of age. Patients often
present for orchiectomy and vaginal lengthening procedures, both now often done at the
end of the second or at the beginning of the third decade of life so that the patient is
mature enough to participate actively in the treatment decisions. Patients are mentally
absolutely normal. Gender identity is that of a normal female.