IDSD2026 Oral Communication Abstracts Session 1 (7 abstracts)
Reliance on diagnostic genetics in reaching a diagnosis of androgen insensitivity syndrome (AIS) – results from the I-DSD registry
Kapczuk A 1 , Alimussina M 1,2 , McElvaney J 1,2 , Kolesinska Z 3 , Lucas-Herald A 1 , McNeilly J 4 , Holterhus PM 5 , Ahmed SF 1,2 & I-DSD AIS Study Group
1Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, United Kingdom; 2Office for Rare Conditions, University of Glasgow, Glasgow, UK; 3Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, 60-572 Poznan, Poland; 4Department of Clinical Biochemistry, Glasgow Royal Infirmary, Glasgow, UK; 5Department of Paediatric Oncology and Rheumatology, Paediatric Endocrinology and Diabetes, University of Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany
Introduction: The practice of reaching a diagnosis and the reliance on diagnostic genetics in suspected cases of Partial and Complete AIS (PAIS, CAIS) remains unclear.
Methods: To understand the use of Androgen Receptor (AR) analysis for reaching a diagnosis of Complete and Partial AIS (CAIS/PAIS), the I-DSD registry on the SDMregistries platform was used to identify all cases reported as AIS. Centres with eligible cases were approached to obtain more information on clinical features and diagnostic findings.
Results: At study launch in 2025, of the 10,375 cases on the platform, 831 (8%) cases were reported as AIS (CAIS:PAIS:NK, 479:348:4). At first data tranche, of these 831 cases, data were available in 664 (80%) (CAIS:PAIS:NK, 381:280:3) from 43 centres in 20 countries. Of the 381 cases of CAIS, AR analysis was reported in 125 (33%) cases, and a gene abnormality was reported in 116 (93%). Of the 280 cases of PAIS, details of AR analysis were available in 100 (36%) cases, and a gene abnormality was reported in 54 (54%). Comparing the 12 high income centres and 8 low/middle income centres, the number of centres that had performed AR analysis was 11 (92%) and 6 (75%), respectively. The median age (10th, 90th) at diagnosis was available in 230 cases and was 9.7yrs (0.06, 18.5) and 0.6yrs (0.04, 12.6) in CAIS and PAIS, respectively (P <0.01). In those cases of PAIS where the diagnosis was associated with an AR abnormality, the median age at diagnosis was 1.3yrs (0.01, 28.1) whereas in those cases where there was no report of AR analysis, the age at diagnosis was 0.3yrs (0.04, 2.0) (P <0.01). In CAIS, the median age at diagnosis for the two groups was similar at 10.9yrs (0.02, 18.8) and 8.5yrs (0.2, 38.0) (NS).
Conclusion: The preliminary analysis of the I-DSD Registry shows that there is a high level of genetic certainty of diagnosis in cases of AIS who have had genetic analysis. However, almost 50% of the cases were reported as AIS despite the absence of genetic confirmation. In cases of PAIS, an earlier diagnosis was less likely to be associated with genetic confirmation.
Volume 118
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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