hrp0094p1-42 | Sex Endocrinology and Gonads A | ESPE2021

Disorders of sex development: clinical and genetic heterogeneity

Nikitina Irina , Kudryashova Elena , Sarakaeva Leyla , Kostareva Anna ,

Background and Aims: Disorders of sex development (DSD) are a group of rare congenital conditions. Clinical management of patients with DSD is often difficult and requires multidisciplinary approach.Material and methods: Twenty-eight patients aged 1 to 18 years with different forms of 46, XY DSD were included. The subjects have undergone a clinical examination, karyotype analysis followed by the next generation sequencing (NGS) using MiS...