Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.
Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.
Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/month. Of a total of 2061 cases in the I-DSD/CAH Registry in Mar 2016, there were 560 cases of CAH, which had been added by 27 centres in 13 countries from four continents. The median year of birth of cases in the Registry was 2002 (range, 1937, 2015) and 224 (40%) were over 16 years old. The median age at first presentation was 4 months (<1.48) and the aetiology of CAH was 21-hydroxylase deficiency in 404 (93%). Of the 560 cases, 259 (60%) were 46,XX and 8 (3%) of these cases were raised as boys. The median age at presentation of these eight cases was 2 months (<1.18). Of the 433 cases, where information was available, the basis of diagnosis was available in 206 and of these cases, the diagnosis had been confirmed by a combination of biochemistry and DNA analysis in 126 (61%). In 71 (34%), the diagnosis had been reached on biochemistry alone, in 7 (3%) the diagnosis was reported to have been based solely on clinical features and in 2 (1%) the diagnosis had been confirmed by genetics alone. The median year of birth of those cases where the diagnosis was based on genetic vs solely biochemical confirmation were 2007 (1975, 2015) and 1999 (1964, 2014), respectively (P<0.0001).
Conclusion: The quick adoption of the I-CAH Registry clearly demonstrates user acceptability of this new Registry and its use reveals a temporal shift in diagnostic practice towards the use of molecular genetics. Acknowledgements: Funded by MRCUK-G1100236, EUFP7-201444, EUFP7-281654.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology