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
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Published in |
BMC Endocrine Disorders, November 2016
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DOI | 10.1186/s12902-016-0141-7 |
Pubmed ID | |
Authors |
Sunita M. C. De Sousa, Karin S. Kassahn, Liam C. McIntyre, Chan-Eng Chong, Hamish S. Scott, David J. Torpy |
Abstract |
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. 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. This case highlights the emerging clinical utility of whole genome sequencing as a tool in differentiating disorders of sexual development. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 11% |
Australia | 2 | 7% |
Spain | 1 | 4% |
Burkina Faso | 1 | 4% |
France | 1 | 4% |
Canada | 1 | 4% |
Sri Lanka | 1 | 4% |
Unknown | 17 | 63% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 23 | 85% |
Scientists | 3 | 11% |
Practitioners (doctors, other healthcare professionals) | 1 | 4% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 31 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 6 | 19% |
Student > Ph. D. Student | 4 | 13% |
Researcher | 4 | 13% |
Student > Doctoral Student | 3 | 10% |
Other | 3 | 10% |
Other | 3 | 10% |
Unknown | 8 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 35% |
Agricultural and Biological Sciences | 4 | 13% |
Biochemistry, Genetics and Molecular Biology | 3 | 10% |
Nursing and Health Professions | 2 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
Other | 2 | 6% |
Unknown | 8 | 26% |