Etiological classification of patients with Ambiguous genitalia: A cross-sectional Study

Document Type : Original Article


1 Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2 Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

3 Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

4 Depatment of General Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

5 Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

6 Department of Endocrinology and Adult Metabolism, University of Kerman, Kerman, Iran


Backgrounds: 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
Objective: The aim of this study was to define the classification and etiological distribution of patients presented with ambiguous genitalia.
Methods: 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. Five patients were excluded who did not have final diagnosis of ambiguous genitalia.
Result: 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 ambiguous 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.
Conclusions: Ambiguous genitalia had various etiologies. 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.


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Articles in Press, Accepted Manuscript
Available Online from 30 June 2022
  • Receive Date: 30 June 2022
  • Accept Date: 30 June 2022
  • First Publish Date: 30 June 2022