Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study

Disorder of sex development (DSD) is one of the most serious problems encountered at birth. DSD is a heterogeneous group of rare conditions wherein chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to define the classification and etiological distribution of patients presented with ambiguous genitalia
This study was a cross-sectional study conducted in the department of Pediatric and Endocrinology and Surgery at Shahid Sadoughi Hospital in Yazd from March 2016 to March 2020. All patients with genital ambiguity were included in the study with the exception of five patients since they did not have a final diagnosis of ambiguous genitalia.
Out of 50 patients, thirty-one (62 %) patients were diagnosed with 46, XXDSD, fifteen (30%) patients with 46, XYDSD, while four (8%) patients with ovotesticular DSD. Congenital adrenal hyperplasia (CAH) was the common cause in 46, XXDSD with majority due to deficiency of 21 hydroxylase enzyme. Three (6%) patients with 46, XXDSD were diagnosed with genital ambiguity as part of syndrome. Out of patients with 46, XYDSD, CAH observed in two (4%) patients, severe hypospadias in nine (18%) patients and 5-alpha reductase deficiency in two (4%) patients and one (2%) patient with syndrome. Four (8%) patients were diagnosed with ovoteticular DSD.
Our study revealed that 46, XXDSD was the most frequent DSD etiological diagnosis. CAH was the commonest cause in 46, XXDSD and severe hypospadias were the underlying cause of 46, XYDSD.