Disorders of sex Development (DSD); Beyond hormonal aetiology

Disorders of Sex Development (DSD), are a group of conditions where the biological sex, being male or female, of a baby does not match the genital appearance. Congenital genital abnormalities, isolated or in association with syndromes, can often be confusing and have complex pathology. Here in we report our experience with patients, who presented with various congenital genital abnormalities, referred to our center as DSD. The aim is to highlight the importance of considering this in the differential diagnosis of DSD. During the period under review, 204 patients were referred for the pediatric Endocrine clinic, King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, for evaluation of possible DSD. Their age ranged between newborn to 8 years of age. More than sixty eight percent (139 patients) were genetically females (46XX), while 29.4 percent (60 patients) had a male genetic sex (46XY). The majority of patients with female genetic sex (46XX) had congenital adrenal hyperplasia (CAH), while androgen resistance (AIS) was the commonest in male genetic sex (46XY). Of interest, to observe an increase in the percentage of patients with congenital genital anomalies of 14.8 percent (31 patients), with no hormonal aetiology in association with DSD. Further, specific genetic studies utilizing the current available technologies. We conclude that clinicians should consider such fact in their management of DSD