Please use this identifier to cite or link to this item:
Scopus Web of Science® Altmetric
Type: Journal article
Title: Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome
Author: De Sousa, S.M.C.
Kassahn, K.S.
McIntyre, L.C.
Chong, C.E.
Scott, H.S.
Torpy, D.J.
Citation: BMC Endocrine Disorders, 2016; 16(1):58-1-58-7
Publisher: BioMed Central
Issue Date: 2016
ISSN: 1472-6823
Statement of
Sunita M. C. De Sousa, Karin S. Kassahn, Liam C. McIntyre, Chan-Eng Chong, Hamish S. Scott and David J. Torpy
Abstract: Background: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. Case presentation: Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was later questioned due to the presence of intact Müllerian structures. The clinical phenotype suggested several susceptibility genes including SRY, DHH, NR5A1, NR0B1, AR, AMH, and AMHR2. To study candidate genes simultaneously, we performed whole genome sequencing. This revealed a novel and likely pathogenic missense variant (p.Arg130Pro, c.389G>C) in SRY, one of the major genes implicated in complete gonadal dysgenesis, hence securing this condition over androgen insensitivity syndrome as the cause of the patient’s disorder of sexual development. Conclusion: This case highlights the emerging clinical utility of whole genome sequencing as a tool in differentiating disorders of sexual development.
Keywords: Disorders of sexual development; androgen insensitivity syndrome; gonadal dysgenesis; whole genome sequencing; next generation sequencing; SRY; case report
Rights: © The Author(s). 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
DOI: 10.1186/s12902-016-0141-7
Grant ID:
Published version:
Appears in Collections:Aurora harvest 3
Medicine publications

Files in This Item:
File Description SizeFormat 
hdl_103898.pdfPublished version2.92 MBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.