Session: OR52-Reproductive Axis Determination, Development & Transgender Medicine
Room 104 (Moscone Center)
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 8 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 1 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%), 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.
Nothing to Disclose: KC, JB, JJ, MR, RS, MA, WA, AB, SB, MC, FD, SLD, ME, TG, SOH, PMH, IAH, LL, YM, OS, SFA
*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm
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