ESPE Abstracts

Background: Although the clinical presentations of congenital adrenal hyperplasia (CAH) have been studied in Saudi children, the literature review revealed no molecular report of 21-hydroxylase was published.

Objective and hypotheses: The aim of this study was to determine the pattern of CYP21A2 gene-mutations of CAH in Saudi children.

Method: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, we thoroughly examined 11 patients with CAH and two asymptomatic individuals with a history of affected siblings. Additionally, we sequenced the full coding regions of the CYP21A2 gene and screened the gene for deletion(s)/duplication(s) using the multiplex ligation-dependent probe amplification (MLPA) technique.

Results: Nine patients had classic CAH and presented with ambiguous genitalia and/or salt-losing crisis. Two patients had the non-classic form of CAH and presented with precocious puberty. The remaining two subjects were asymptomatic. Screening the CYP21A2 gene, we detected p.Gln318X mutation in four patients, c.290-13 C>G (IVS2-13C>G) in another four, and a common deletion, involving exons 6 and 8 in three patients.

Conclusion: Our strategy of Sanger sequencing followed by MLPA was very successful in detecting CYP21A2 mutations in all patients with CAH.

Funding: This work was supported by King Fahad Military Complex, Dahran and College of Medicine Research Center, Deanship of Scientific Research, King Saud University, Saudi Arabia.