Objective: To determine the genetic cause of sex reversal in a Chinese family.
Methods: Two sisters aged 21 and 20 years old were referred for primary amenorrhoea and poor secondary sexual development. They were subjected to clinical, endocrinologic and ultrasonographic investigation, and molecular analysis including cytogenetics, array CGH, SRY and SF-1 mutation screening.
Results: A novel 15bp micro-duplication in the SF-1 gene in patients affected by 46,XY sex-reversal phenotype without dysgenesis.
Conclusion: The novel 15bp duplication of SF-1 gene affecting 46,XY females with diverse phenotypic spectrum. This provides new information for genetic counselling of disorders of sex development.