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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


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 Mullerian 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.

Type Journal
ISBN 1472-6823 (Electronic) 1472-6823 (Linking)
Authors De Sousa, S. M. ; Kassahn, K. S. ; McIntyre, L. C. ; Chong, C. E. ; Scott, H. S. ; Torpy, D. J.;
Publisher Name BMC Endocrine Disorders
Published Date 2016-01-01
Published Volume 16
Published Issue 1
Published Pages 58
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version