hrp0089p2-p339 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Results of Exome Sequencing in Disorders of Sex Development

Kempers Marlies , Claahsen Hedi , Alfen Janielle van , Velden van der , Rinne Tuula

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...