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J Clin Endocrinol Metab. 2014 Feb;99(2):E348-55. doi: 10.1210/jc.2013-2918. Epub 2013 Dec 3.

Novel associations in disorders of sex development: findings from the I-DSD Registry.

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University of Glasgow (K.C., J.B., J.J., M.R., R.S., S.F.A.), Child Health, School of Medicine, Royal Hospital for Sick Children, Yorkhill, and National eScience Centre, Glasgow G3 8SJ, United Kingdom; University of Melbourne (R.S.), eResearch, Melbourne, Parkville VIC 3010, Australia; Al-Amiri Hospital (M.A.), Paediatric Department, MOH, Safat 13015, Kuwait; University of Birmingham (W.A., N.K.), Centre for Endocrinology, Diabetes and Metabolism, School of Clinical & Experimental Medicine, Birmingham B15 2TT, United Kingdom; Vall d'Hebron Research Institute (L.A.) and CIBERER, Barcelona, 08035 Spain; University of Bologna (A.B.), Department of Gynecologic, Obstetric and Pediatric Sciences, Operative Unit Pediatrics, 40138, Bologna, Italy; University Hospital Pisa (S.B.), Servizio di Medicina dell'Adolescenza - UO Pediatria, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy; University Hospital Ghent & University of Ghent (M.C.), Department of Pediatric and Adolescent Endocrinology and Diabetology, 185-9000 Gent, Belgium; Istanbul University (F.D.), Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, 34452 İstanbul, Turkey; Sophia Children's Hospital/Erasmus MC (S.D.), Division of Pediatric Endocrinology, Department of Pediatrics, Rotterdam, The Netherlands; Al-Neelain Medical Research Centre (M.E.), Faculty of Medicine and Health Sciences, Al-Neelain University and Biotechnology Lab, Ahfad University for Women, 00249 Khartoum, Sudan; Marmara University Hospital (T.G.), Istanbul, Pediatric Endocrinology and Diabetes, Fevzi Cakmak Mh. 34899 Ustkaynarca/Pendik-Istanbul-Turkey; University of Lübeck (O.H.), Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, 23560 Lübeck, Germany; University Hospital of Schleswig Holstein (P.-M. H.), Department of General Pediatrics, University of Kiel, 24105 Kiel, Germany; University of Cambridge (I.H.), Department of Paediatri



The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.


To report the range of associated conditions identified in the international DSD (I-DSD) Registry.


Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician.


Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas 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, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations.


Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.

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