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...

hrp0095p1-237 | Diabetes and Insulin | ESPE2022

Neurodevelopmental outcomes in children with congenital hyperinsulinism.

Nikitina Irina , Sarakaeva Leyla , Eftich Egine , Bairov Vladimir , Sukhotskaya Anna , Smorodin Andrey , Ryzhkova Darya , Mitrofanova Lubov , Kelmanson Igor

Background: Congenital hyperinsulinism (CHI) is a rare group of genetic disorders resulting in persistent hypoglycemia which can lead to a considerable risk of neurological damage and developmental delay.Aim: To assess the neurodevelopmental outcome in children with CHI.Methods: Thirty-three patients with СHI aged from 7 to 58 months were included. All subjects underwent clinic...