SFEBES2013 Poster Presentations Growth and development (9 abstracts)
The spectrum of associated congenital anomalies in disorders of sex development: a review of the I-DSD Registry
Kathryn Cox 1 , Jillian Bryce 1 , Jipu Jiang 1 , Martina Rodie 1 , Richard Sinnott 2 , Mona Alkhawari 3 , Wiebke Arlt 4 , Laura Audi 5 , Antonio Balsamo 6 , Silvano Bertelloni 7 , Martine Cools 8 , Feyza Darendeliler 9 , Stenvert Drop 10 , Mona Ellaithi 11 , Olaf Hiort 12, , Ieuan Hughes 14 , Lidka Lisa 15 , Yves Morel 16 , Olle Soder 17 & S Faisal Ahmed 1
1University of Glasgow, Glasgow, UK; 2University of Melbourne, Melbourne, Victoria, Australia; 3Amiri Hospital, Kuwait, Kuwait; 4University of Birmingham, Birmingham, UK; 5Vall d’Hebron Research Institute, Barcelona, Spain; 6University of Bologna, Bologna, Italy; 7University Hospital Pisa, Pisa, Italy; 8University Hospital Ghent, Ghent, Belgium; 9Istanbul University, Istanbul, Turkey; 10Sophia Children’s Hospital/Erasmus MC, Rotterdam, The Netherlands; 11University of Khartoum, Khartoum, Sudan; 12University of Lübeck, Lübeck, Germany; 13University of Cambridge, Cambridge, UK; 14Institute of Endocrinology, Prague, Czech Republic; 15Hospices Civils de Lyon, Lyon, France; 16Karolinska Institutet, Stockholm, Sweden; 17Westfalian-Wilhelms University, Münster, Germany.
Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.
Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.
Methods: 1050 registered cases on The I-DSD Registry (UKCRN#12729), currently used by 20 clinical centres in 14 countries, were examined. 649 (62%) had consent level to allow sharing suitable information. Case details were obtained from the Registry and where information was unclear the reporting clinician was contacted to obtain further information.
Results: Of 649 cases, congenital anomalies occurred in 173 (27%); 107 (62%) cases had one anomaly and 66 (38%) had two or more anomalies. Commonest anomalies included renal 35 (20%), heart 32 (18%), skeletal 32 (18%), short stature 30 (17%), small for gestational age (SGA) 28 (16%) and CNS 27 (15%). Of the 46XY, 46XX and 45X/46XY cases, anomalies were encountered in 113 (25%), 31 (26%), 19 (45%), respectively. In complete androgen insensitivity syndrome (AIS), congenital anomalies were reported in eight cases reported to have a mutation in the androgen receptor (AR) gene (ARmut+ve) (range of anomalies: renal, GI tract, heart, skeletal, skin) and in one case which was ARmut−ve (renal). Corresponding data for partial AIS: total 10 cases, 2 ARmut+ve, 3 ARmut−ve, 5 unknown. Of 89 cases of non-specific 46XY DSD, associated anomalies were encountered in 43 (48%). The range of anomalies included SGA 17 (40%), heart 10 (23%), CNS 8 (19%), renal 7 (16%), GI tract 6 (14%), ENT 5 (12%), skeletal 5 (12%), craniofacial 4 (9%), short stature 4 (9%), eyes 3 (7%), respiratory 3 (7%), skin 3 (7%), adrenal 1 (2%), haematological 1 (2%), and unidentified syndrome 1 (2%).
Conclusions: Associated congenital anomalies occur frequently in DSD, including in monogenic conditions such as AIS which are generally thought to solely affect sex development. These findings provide a direction for further study of genetic and environmental causes of DSD.
Declaration of funding: The I-DSD Registry is supported by the Medical Research Council (Grant number G1100236).
Volume 31
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Endocrine Abstracts
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