Contribution of the Medical Imaging in Care of Ambiguous Genitalia

We report a case of ambiguous genitalia in a 15-year-old patient to demonstrate input of medical imaging in the diagnosis and care of this rare congenital deformation. Disorders of sexual differentiation (DSD) have been defined as congenital conditions in which development of chromosome, gonad, or anatomic sex is atypical and that raise an issue in the sex assignment. In lower socioeconomic countries where antenatal diagnosis is almost non-existent, due to lack of technical facilities, their medical and surgical management is hard. The case which we report was investigated by ultrasonography and genitography, which remains primary indications in our context.


Introduction
Ambiguous genitalia or hermaphroditism is a rare intersex condition. It affects about one newborn in 4500 births and is defined by mixed various proportions of male and female sexual characteristics [1]. According to the new nomenclature, we no longer speak of ambiguous genitalia but of disorders of sexual differentiation (DSD). This classification is based on the karyotype [2]. DSD's abnormalities result from insufficient masculinization of a genetically male embryo (46 XY, DSD) or excessive virilization of a female embryo (46 XX, DSD), in which several genetic and hormonal factors are involved [3].
Radiological imaging plays an important role in demonstrating genital anatomy [4]. We report a case of true hermaphroditism in a 15-year-old girl to illustrate the role of radiological imaging in diagnosis of this rare condition, as well as issue of its management in our context.

Observation
A 15-year-old patient, with history of scrotal hernia repaired at 4 months age, was referred to the radiology department of Yalgado Ouedraogo Teaching Hospital for imaging further investigation of an abnormal of sexual differentiation.

Discussion
DDS are rare diseases with a prevalence of 0.1% to 2% according to some authors and 2.3% in a recent study conducted in Mali [3] [4]. They lead a discordance between the sex itself ("phenotypic") and the genetic sex ("genotype").      These abnormalities of sexual development remain complex and rare and their management is based on development of an efficient therapeutic strategy [4]. This management requires an accurate diagnosis and involvement of a trained multidisciplinary team [4] [5]. Imaging examinations, including ultrasound and MRI, are considered as key modalities in diagnosis because they provide detailed anatomical information. In our case, ultrasound was the first choice imaging method used to explore the internal genitalia with demonstration of a rudimentary uterus, right ovary and a single testicle.
It is a non-invasive, inexpensive, easily reproducible and relatively accessible technique. Some authors found that it was sensitive and specific in 96% of cases in morphological screening of internal genitalia [4] [5]. Abdominal ultrasound scan ruled out intra or retroperitoneal pathological mass that might suggest adrenal hyperplasia, a leading cause of ambiguous genitalia. In recent decades, genitography has become more and more important in the diagnosis and therapeutic management of these conditions. It enables excellent viewing of gonads especially when they are small or are not palpable. In our case genitogram gave Z. S. Moussa et al.
anatomical evaluation and identification of internal genital organs. Thus a small tubular uterus and a large straight smooth right tube, without ampullary folds or peritoneal spillage were demonstrated by contrast medium outlining. Magnetic resonance imaging (MRI) has not been performed for our patient. Some authors revealed that it has better sensitivity (which could reach 100%) for gonadal exploration compared to ultrasound.
It would be a very useful imaging modality for difficult cases of hermaphroditism, especially in structural analysis of testicular tissues [5]. Sex assignment should be made quickly; surgical treatment must be early and if possible in one time. Diagnosis and treatment must begin at birth to avoid gender identity disturbances. Delay management should consider risk of malignancy and fertility impairment. In our case, the right testicle was dysplastic, thus raising the risk of long-term degeneration. Authors have noted that the incidence of gonad tumors is approximately 10% in true 46, XY hermaphrodites and 4% in true hermaphrodites 46, XX [6]. In our context, the cultural beliefs that stigmatize these patients heavily influence the care that is already made difficult by multiple deficiencies. As recommended by Mure and Sirol, sex assignment of children carrying DDS should be done within a multi-disciplinary team including endocrinologists, surgeons, psychologists, cytogeneticists, molecular biologists, hormonal biochemists, obstetricians and urologist [7].

Conclusion
Genitalia ultrasound scan remains the first-line assessment in investigation of disorders of sexual differentiation in our context. It is most often supplemented by fluoroscopic genitography. Our observation has just reminded us of the good practices of these exams. The accurate anatomical assessment performed by medical imaging, enables important therapeutic options. Sex assignment requires multidisciplinary decision and parental will.