ESPE Abstracts

Background: Jansen de Vries Syndrome is a rare autosomal dominant neurodevelopmental condition characterized by delayed psychomotor development, dysmorphic features, behavioural problems and short stature. First described in 2017, the disorder is attributed to pathogenic variants in Exons 5 and 6 of the of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. The syndrome has been identified in 26 countries worldwide so far and it could be associated wi...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive genetic disease. Simple virilizing (SV) - CAH in boys is characterised by accelerated longitudinal growth, penile growth, pubic and axillary hair growth and aromatic body odor. More often these patients have advanced bone age (BA) which limits their available time to grow and leads to near adult height below the average of the normal population. Longstanding and...