Disorders of sex Development (DSD); Beyond hormonal aetiology

Abstract

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