Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience.

Introduction: The aim of the current work was to review the clinical profile, etiological classification as well as management of Egyptian paediatric patients with disorder of sex development (DSD) presented at tertiary center in Cairo. Material and Methods: The study was a cross sectional observational study included Egyptian patients who were attending the Endocrine clinic during a period of one year from January to December 2019. All patients with overt genital ambiguity aged from 0 to 18 years were recruited in the study. The diagnosis of patients was dependent upon clinical and hormonal profile. Results: Out of 100 patients, 71% had 46XY DSD, 24% had 46XXDSD, and sex chromosome DSD was identified in 5%. The median age of presentation was 12 months with 19% presented during infancy. The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to androgen insensitivity syndrome (28%). Most of 46 XX DSD (21/24) group were diagnosed as classic congenital adrenal hyperplasia secondary to deficiency of 21 hydroxylase enzyme with 90% was salt waster. Conclusion: Our series revealed that 46XY DSD was the most frequent etiological diagnosis with androgen insensitivity syndrome representing the commonest presumed cause. CAH with classic salt wasting type was the second common disorder. Management of children with DSD is a real challenge especially with lack of adequate resources. The crucial issues which stand against proper diagnosis and management are late presentation combined with economic constrains, social and cultural issues.