hrp0097rfc8.1 | Fat, metabolism and obesity 2 | ESPE2023

A novel heterozygous likely pathogenic variant in GNB1 causing hyperphagia, severe early onset obesity and neurodevelopmental disorder

Karantza Maria , Hun Seo Go , Hyun Seong-In , Lee Hane , Kitsiou Sophia , Michala Lina , Kostopoulou Eirini

The proband is a 12 yr old Caucasian European girl with grade 3 obesity, developmental delay and hyperphagia. She was born at term via an uncomplicated pregnancy and exhibited neonatal hypotonia, difficulty feeding, failure to thrive and delayed attenuation of milestones. At the age of 2 years she started developing hyperphagia and rapid excessive weight gain. Molecular analysis for Prader Willi syndrome and array CGH were negative. At the age of 10 yrs she was diagnosed with ...

hrp0097p2-158 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A case of male pseudoermaphroditism (46,XY DSD) in an adolescent with a novel de novo NR5A1 gene variant.

Kostopoulou Eirini , Samkinidou Efstratia , Sertedaki Amalia , Efthymiadou Alexandra , Giannakopoulos Aristeidis , Hyun Seong-In , Lee Hane , Hun Seo Go , Chrysis Dionisios

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...