ISSN 2347-954X (Print) Radiologic Imaging in Patients with 46 XY, Disorders of Sex Development (DSD): A 25 Years' Experience from a Major Teaching Hospital

Abstract: Disorders of sex development (DSD), is a group of conditions where the external genitalia appear abnormal. It represents a true medical and social emergency which need a multi-disciplinary team approach for elucidation. The pediatric radiologist plays an important role in defining the genital anatomy which remains one of the most important factors in sex determination, in addition to chromosomal analysis. It was a retrospective hospital-based study, conducted over 25 years between January 1989 and December 2014. Imaging studies (ultrasound, and/or magnetic resonance imaging were retrospectively reviewed in various patients with 46XY, DSD confirmed by chromosomal analysis and appropriate hormonal investigations. Fifty-six patients were diagnosed to have 46 XY, disorders of sex development (DSD), with variable etiological causes with androgen insensitivity and 5--reductase deficiency were among the commonest. In addition to radiological, hormonal and chromosomal studies, laparoscopy studies were needed in four patients. Ultrasound was the primary modality for screening, as it is so sensitive and specific for eliciting the presence or absence of internal organs, but it less sensitive in identifying the testes, only 6 out of 18 (33.3%) patients and operator dependent. However, Magnetic Resonance (MRI) was more sensitive for testicular tissue identification reaching up to 100%, and can detail various internal structures. At the time of diagnosis of 46 XY, DSD, imaging to characterize the pelvic structures should be ordered. Ultrasound continues to remain the first choice for initial evaluation, as it is cheap, easily accessible and has a high sensitivity and specificity for eliciting the presence or absence of female internal organ; however, it is less sensitive in identifying the tests and is operator dependent. Magnetic resonance (MRI) has been used as a helpful modality for difficult cases as it is more sensitive for testicular tissue identification, and can detailed internal structure