Project description

Intersex conditions are congenital conditions where gonadal or anatomical sex is atypical. Intersex conditions encompass a wide range of abnormalities, including hypospadias (abnormal urinary opening in males), gonadal dysgenesis (underdeveloped or imperfectly formed gonads), and ambiguous genitalia and sex reversal (ie XX males and XY females). Our aim is to identify genes causing Intersex, and the molecular mechanisms underlying testis and ovary formation in the mammalian embryo. This proposal will provide new insights into the molecular control of testis development, and thus offer the potential to improve diagnosis and clinical management of Intersex. Approaches include human genetics, as well as molecular, cell and developmental biology.

1. Ono M, Harley V (2013) Disorders of sex development: new genes, new concepts. Nature Reviews Endocrinology 9(2):79-91.
2. Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A (2018) Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. Nature Communications 9(1):5319.
3. León NY, Reyes AP, Harley VR (2019) A clinical algorithm to diagnose differences of sex development. The Lancet Diabetes & Endocrinology 7(7):560-574.
Visit website on NHMRC Program on DSD: http://dsdgenetics.org/