Novel associations in disorders of sex development: Findings from the I-DSD registry

Results: Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) two, 20 (12%) three and 14 (8%) four or more. Karyotypes with most frequently reported associations included 45,X with 6/8 affected cases (75%), 45,X/46,XY with 19/42 cases (45%), 46,XY with 112/460 cases (24%) and 46,XX with 27/121 cases (22%). In the 112 cases of 46,XY DSD, commonest conditions included small for gestational age (SGA) in 26 (23%), cardiac anomalies in 22 (20%) and CNS disorders in 22 (20%), while in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected Androgen Insensitivity Syndrome (AIS), 19 (11%) had reported anomalies and 9 of these 19 had confirmed androgen receptor mutations. Conclusions: Over a quarter of cases in the I-DSD Registry have an additional condition. These associationscandirectinvestigatorstowardsnovelgeneticetiologyandalsohighlighttheneedfor more holistic care of the affected person.