ESPE Abstracts

Background: Disorders of sex development (DSD) comprises a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo. Imaging is a very useful tool in assessing the patient’s phenotypic sex through identifying the internal genital anatomy and the adrenal glands. Ultrasonography is a cheap and readily available tool. MRI has disadvantage of being expensive with long waiting lists especially in developing countries. We aimed to study the value of these 2 tools in the radiological evaluation of 46 XY DSD cases.

Methods: All 46, XY DSD cases referred to Endocrinology Clinic in Alexandria University Children's Hospital for evaluation of atypical genitalia over one year were included in the study. Parents signed an informed consent to participate in the study. Patients were subjected to full clinical assessment including external musculinization score (EMS) and blood testing for karyotyping, testosterone (T), dihydrotestosterone (DHT), Follicle stimulating hormone (FSH) and luteinizing hormone (LH). All cases had ultrasound pelvis and inguino-scrotal region and MRI abdomen and pelvis to assess internal genital organs, localize the gonads and measure the testicular volume.

Results: 24 new patients with XY DSD were recruited. The age of presentation ranged between 0.6– 14 years with a mean of 3.34 ± 1.85 years. Most of the cases were initially assigned as males (18 cases, 75%). Five alpha reductase deficiency was the most common diagnosis (12 cases, 50%). Using ultrasonography, 20 cases had normal testicular volume for age (83.3%) while 2 cases (8.3%) had small testes. MRI findings match the ultrasonography in them. Gonads were non-detectable either clinically or by ultrasonography in 2 cases. One of them had male phenotype with bilateral cryptorchidism. MRI showed one atrophied gonad and the other was partially atrophied in the inguinal canal. The other case had female phenotype with bilateral cryptorchidism and MRI showed bilateral abdominal testes.

Conclusion: The diagnosis of XY DSD cases remains a challenge. Ultrasonography plays a major role in the evaluation of gonads and phenotypic gender. MRI should be reserved to cases when ultrasonography is non-conclusive especially in resource-limited setup.