Figure 12.8. Septate uterus. Transverse T2–weighted image identifies a septum in the uterine cavity (arrow). The external uterine outline is normal. (Source: Imaoka I, Kitagaki H, Sugimura K. MR imaging associated with female infertility. Nichi-Doku Iho 2000;45:440–450, with permission from Nihon Schering K. K.)
development abnormalities, and distorted fallopian tubes. Clinically, DES exposure is associated with subsequent infertility and ectopic pregnancies.
Hysterosalpingography in these patients shows a narrow irregular cervix and a small irregular uterine cavity. The uterus may have a T-shape. Currently hysterosalpingography is the preferred imaging modality in evaluating DESrelated abnormalities.
Figure 12.9. Septate uterus (arrow) identified on T2-weighted transverse oblique MR image. (Source: Burgener FA, Meyers SP, Tan RK, Zaunbauer W. Differential Diagnosis in Magnetic Resonance Imaging. Stuttgart: Thieme, 2002, with permission.)
Sex Differentiation Abnormalities
These abnormalities are usually subdivided into genetic disorders, gonadal disorders, and phenotypic sex differentiation disorders. Unless testicular tissue is present, a fetus develops into a female or a variant of a female. Genetic and hormonal evaluations are needed to define the underlying abnormalities in many of these infants and imaging has a limited role. Ultrasonography is helpful in outlining internal genital anatomy, although MRI provides better resolution.
Gonadal Disorders
Gonadal disorders include true hermaphroditism and gonadal dysgenesis (Turner’s syndrome). Both ovarian and testicular tissue is present in true hermaphrodites. For instance, an ovotestis can contain spermatogenesis in testicular tissue.
Patients with Turner’s syndrome have their gonads replaced by connective tissue. The incidence of malignancy is increased in this tissue.
Phenotypic Differentiation Disorders
Phenotypic abnormalities develop in a setting of several endocrine disturbances. Female pseudohermaphrodites have a normal female XX karyotype and normal internal female genitalia, but have virilizing external genitalia due to excess androgen from a number of sources. The most common etiology is congenital adrenal hyperplasia. Ultrasonography or MRI should confirm normal internal genitalia.
Male pseudohermaphrodites have a normal male XY karyotype, and testicular tissue is present, but the internal or external genitalia is ambiguous. Imaging should exclude the presence of ovaries and uterus.
Testicular feminization is a rare sex-linked disorder caused by androgen receptor gene mutations. Peripheral insensitivity to androgen leads to female external genitalia, undeveloped müllerian duct structures, androgen-producing testes, and a male genotype.As a result, the proximal third of the vagina, cervix, uterus, and fallopian tubes are either absent or rudimentary. The sexual orientation is female. Testes are undescended. Ultrasonography identifies a blind-ending vagina and no uterus or adnexal