1. Total Registry Users – 134 -94 Clinical Users from 65 centres -22 Research Users from 12 centres -34 Basic Users from 24 centres -80 centres in total (some overlap occurs) 99 (75%) have used Registry within last 12 months – ie Active Users List Of Countries By Continent EUROPEAFRICAAUSTRALIA AustriaAlgeriaAustralia BelarusEgypt BelgiumMoroccoNORTH AMERICA Bosnia and HerzegovinaNigeriaCanada CyprusSudanMexico Czech Republic USA EstoniaASIA FranceChinaSOUTH AMERICA GermanyHong KongArgentina ItalyIndiaBrazil NetherlandsIndonesia PolandIsrael RomaniaJordan SpainKuwait SwedenMalaysia SwitzerlandPakistan TurkeySri Lanka United KingdomUnited Arab Emirates I-DSD Registry – Summary Of Users, September 2013

2. 1161 cases (August 2013) Median Year of Birth - 1996 (range 1927-2013) Majority of cases: 46XY (844), 46XX (203) Female - 664 (57%), Male - 497 (43%) Number of cases Associated conditions 294 (25%) History of infertility88 (8%) Family history of DSD232 (20%) Parental consanguinity153 (13%) Samples available492 (42%) Disorder Types in the Registry I-DSD Registry Metrics

3. When did you first receive User access to the Registry? What is your primary role? How often do you use the Registry? I-DSD Registry User Survey - 2013 Of 134 registered users, 35 responded (26%), 35% of 100 active users* *Active users have logged into the registry at least once in the past year

4. Functionality Of The Registry How important are the following functions of the Registry for you How effective is the Registry in addressing this function Looking at own cases for audit and research Searching for suitable cases for research Looking for samples which are available for sharing Designing new studies Searching for experts to discuss rare conditions n/a 25 %

5. Interaction In The Registry For how many cases entered in the Registry have you: 01-5 6-10 11-20 21-50 In 2012 and 2013, have you used the Registry (to provide data or obtain data) for any of the following studies?

6. What features would you like to see developed in the Registry? (darker shade - higher importance) New features

7. Other Comments -Scope to include information on -Psychological outcome -Surgical outcome -Tumourigenesis -Registry of guidelines & advice on management -Registry of centres that perform molecular genetic studies