Journal article
The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene
A Lucas-Herald, S Bertelloni, A Juul, J Bryce, J Jiang, M Rodie, R Sinnott, M Boroujerdi, M Lindhardt Johansen, O Hiort, PM Holterhus, M Cools, G Guaragna-Filho, G Guerra-Junior, N Weintrob, S Hannema, S Drop, T Guran, F Darendeliler, A Nordenstrom Show all
Journal of Clinical Endocrinology and Metabolism | ENDOCRINE SOC | Published : 2016
DOI: 10.1210/jc.2016-1372
Abstract
Background: In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. Objective: To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis. Methods: Through the International Disorders of Sex Development Registry, clinical information was gathered on young men suspected of having PAIS (n = 52) who presented before the age of 16 years and had genetic analysis of AR. Results: The median ages at presentation and at the time of the study were 1 month (range, 1 day to 16..
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Awarded by European Commission
Funding Acknowledgements
The I-DSD Registry is supported by Medical Research Council partnership award G1100236 (to S.F.A., J.B., J.J., M.R., and R.S.) and was initially developed under a project grant from the Seventh European Union Framework Program (201444) and a project grant from the Research Unit of the European Society for Pediatric Endocrinology. G.G.-F. was supported by the CAPES Foundation, Ministry of Education of Brazil (BEX 3547-15-9). I.A.H., C.A., and R.T.-C. were supported by the National Institute for Health Research Cambridge Biomedical Research Centre. M.C. is supported by a senior clinical investigator grant from the Research Foundation Flanders and is grateful to A. Desloovere for data collection and logistic support. S.F.A., M.C., O.H., P.M.H., A.J., and A.N. performed this work as part of COST Action BM1303 DSDnet, supported by COST (European Cooperation in Science and Technology).