Hermaphroditism states are a result of abnormalities in embryonic development and may have mixed characteristics of each sex, with variable clinical manifestations. True hermaphroditism is defined as the simultaneous presence in a single individual of both testicular and ovarian tissues, that may exist either in separate gonads or in the same gonad (ovotestis) 3.
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Epidemiology
True hermaphroditism is the rarest of all such conditions: ambiguous genitalia occur approximately once in every 1000 live births, and in a 10-year series of 109 patients presenting with ambiguous genitalia, true hermaphroditism was found in only 2 patients (1.8%).
Pathology
Genetics
The karyotypic distribution found in this condition is approximately 80% 46, XX, 10% XY, and 10% mosaicism 7.
Histology
Histologic evaluation is necessary for differentiation between normal and abnormal gonads 1.
Forms
Female pseudohermaphrodites
Female pseudohermaphrodites are genetically 46,XX females with normal ovaries who were exposed to androgens in utero and underwent virilisation of the external genital primordium 1.
Although their external genitalia are ambiguous, they do not have testicular tissue or internal Wolffian duct derivatives. The most common cause is congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency 1.
Male pseudohermaphrodites
Male pseudohermaphrodites are genetically 46,XY males with normal or mildly defective testes. Patients with a complete defect have a normal female phenotype. Patients with an incomplete defect have a varying degree of virilisation or feminization. Male hypospadias has been interpreted as a form of male pseudohermaphroditism caused by decreased androgen stimulation of the male fetus at an early stage of gestation 1. In some cases, a blind-ending vaginal pouch empties into the perineum behind the urethral opening (pseudovagina) or through the urethra (urogenital sinus) 1.
Radiographic features
Ultrasound
Ultrasound may reveal focal abnormalities as well as a diffusely heterogeneous echotexture of the affected testis due to multiple scattered cysts 6,8-10.
MRI
As both testes and non-cystic immature ovaries have similar signal intensity on T1- and T2-weighted images 7, gonadal characterization requires histological evaluation 1. Ectopic gonads frequently demonstrate an outer rim of medium signal intensity on T2-weighted images, which helps distinguish them from lymph nodes 2,3. Although the signal intensity of atrophic, dysgenetic, or streak gonads is not as high as that of normal gonads on T2-weighted images 1.
Treatment and prognosis
Treatment is complex but may include surgery, hormone therapy and psychological therapy.
Differential diagnosis
Requires the presence of female and male sexual organs in the cavity of the small pelvis. Variants are possible in varying degrees of development and the predominance of one system of organs over another. Characteristic is the underdevelopment of one or both of the existing systems of organs.
Practical points
If hermaphroditism is suspected, it is advisable to examine the retroperitoneal organs, the hypothalamic-pituitary region and the breasts.
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