The Long term outcome of boys with partial androgen insensitivity syndrome and androgen receptor gene mutations

Lucas-Herald, A. et al. (2016) The Long term outcome of boys with partial androgen insensitivity syndrome and androgen receptor gene mutations. Journal of Clinical Endocrinology and Metabolism, 101(11), pp. 3959-3967. (doi: 10.1210/jc.2016-1372) (PMID:27403927) (PMCID:PMC5095251)

120975i.pdf - Published Version
Available under License Creative Commons Attribution.



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 I-DSD Registry, clinical information was gathered on young men suspected of having PAIS (n=52) who presented before the age of 16 yrs and who had genetic analysis of AR. Results: The median age at presentation and at the time of the study was 1 month (1 day, 16 yrs) and 22 yrs (16, 52), respectively. Of the cohort, 29 (56%) had 20 different AR mutations reported. At diagnosis, the median external masculinisation score (EMS) was 7 and 6 in cases with and without AR mutation, respectively (p=0.9) and median current EMS was 9 and 10, respectively (p=0.28). Thirty-five (67%) men required at least one surgical procedure and those with a mutation were more likely to require multiple surgeries for hypospadias (p=0.004). All cases with an AR mutation had gynecomastia compared to 9% of those without an AR mutation. Of the 6 men who had a mastectomy, 5 (83%) had an AR mutation. Conclusions: Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, normal testosterone synthesis and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and management.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Rodie, Dr Martina and Bryce, Dr Jillian and Sinnott, Professor Richard and Ahmed, Professor Syed Faisal and Boroujerdi, Dr Massoud and Jiang, Mr Jipu and Lucas-Herald, Dr Angela
Authors: Lucas-Herald, A., Bertelloni, S., Juul, A., Bryce, J., Jiang, J., Rodie, M., Sinnott, R., Boroujerdi, M., Lindhardt-Johansen, M., Hiort, O., Holterhus, P.M., Cools, M., Guaragna-Filho, G., Guerra-Junior, G., Weintrob, N., Hannema, S., Drop, S., Guran, T., Darendeliler, F., Nordenstrom, A., Hughes, I.A., Acerin, C., Tadokoro-Cuccaro, R., and Ahmed, S.F.
College/School:College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > MRC/CSO SPHSU
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
University Services > IT Services > E-Science
Journal Name:Journal of Clinical Endocrinology and Metabolism
Publisher:The Endocrine Society
ISSN (Online):1945-7197
Published Online:12 July 2016
Copyright Holders:Copyright © 2016 The Endocrine Society
First Published:First published in Journal of Clinical Endocrinology and Metabolism 101(11):3959-3967
Publisher Policy:Reproduced in accordance with the copyright policy of the publisher

University Staff: Request a correction | Enlighten Editors: Update this record

Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
557261The International DSD Network (I-DSD)Syed Faisal AhmedMedical Research Council (MRC)G1100236SCHOOL OF MEDICINE, DENTISTRY & NURSING