I-DSD Registry User Insights 2013: Metrics, Users, and Survey Results

I-DSD Registry Summary Of Users, September 2013 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 New Registry Users Per Year List Of Countries By Continent EUROPE Austria Belarus Belgium AFRICA Algeria Egypt Morocco Nigeria Sudan AUSTRALIA Australia 2013 37 2012 35 2011 15 NORTH AMERICA Canada Mexico USA 2010 32 Bosnia and Herzegovina Cyprus Czech Republic Estonia France Germany Italy Netherlands Poland Romania Spain Sweden Switzerland Turkey United Kingdom 2009 15 2008 6 ASIA China Hong Kong India Indonesia Israel Jordan Kuwait Malaysia Pakistan Sri Lanka United Arab Emirates 0 10 20 30 40 SOUTH AMERICA Argentina Brazil Number of Active Users Accessing Registry last year 99 last 6 months 66 last month 27 last 2 weeks 19 last week 14 0 20 40 60 80 100 120

I-DSD Registry Metrics 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%) Disorder Types in the Registry Non-specific disorder of undermasculi nisation 12% Disorder of androgen action 29% Associated conditions Number of cases 294 (25%) History of infertility 88 (8%) Family history of DSD 232 (20%) Parental consanguinity 153 (13%) Samples available 492 (42%) Disorder of gonadal development 23% Disorder of androgen excess 13% Disorder of androgen synthesis 15%

I-DSD Registry User Survey - 2013 Of 134 registered users, 35 responded (26%), 35% of 100 active users* When did you first receive User access to the Registry? How often do you use the Registry? 0% 5% 10% 15% 20% 25% 30% 35% Before 2011 > once a week > once a month 2011 > once every 3 m > once every 6 m 2012 > once a year 2013 Never 0% 10% 20% 30% 40% 50% What is your primary role? What are your secondary roles? 3 1 0% 10% 20% 30% 40% 50% 60% 5 Medical Care Clinician 22 Clin Evaluation Researcher Biochem Evaluation 11 Genetic Evaluation Clinical Researcher Genetic Counselling Other Psych Care 11 Other Surgical Care 18 *Active users have logged into the registry at least once in the past year

Functionality Of The Registry How important are the following functions of the Registry for you How effective is the Registry in addressing this function 1 2 4 3 Searching for suitable cases for research 16 15 14 9 1 3 2 Looking at own cases for audit and research 6 11 16 1 - ineffective 1 - unimportant 12 10 2 - moderately effective 2 - moderately important 4 4 3 - effective Searching for experts to discuss rare conditions 6 3 15 12 3 - important 4 - very effective 7 4 - very important 10 1 n/a 25% 3 6 6 14 11 Looking for samples which are available for sharing 12 8 2 3 9 4 13 9 Designing new studies 11 9

Interaction In The Registry For how many cases entered in the Registry have you: Been asked for more information Supplied blood and urine samples 1 3 2 In 2012 and 2013, have you used the Registry (to provide data or obtain data) for any of the following studies? 1 1 5 13 Studies Launched 2008-2011 14 17 Been contacted by another user to discuss a similar case Studies Launched 2011-2013 Supplied more information 24 1 5 1 None of the above 9 10 4 17 0 1-5 11-20 6-10 21-50

New features What features would you like to see developed in the Registry? (darker shade - higher importance) Database of active studies Biochemical test Surgical anatomical evaluation 1 2 5 6 11 15 15 22 13 11 Limited access to patients of their own clinical records E-Consultation 4 6 1 - unimportant 9 13 4 2 - moderately important 8 13 8 3 - important 9 9 8 9 4 - very important

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