ESPE Abstracts

Introduction: Aggrecan, encoded by the ACAN gene, is an important component in the cartilage extracellular matrix. Mutations in the ACAN gene have been associated with idiopathic and familial short stature in the recent years. Bone age (BA) is often advanced, although it can be delayed or normal. Patients can have dysmorphic features like broad forehead, midfacial hypoplasia, prognathism, posteriorly rotated ears, broad and short thumbs. Bone and joint problem...

Background: 46,XY Complete Gonadal Dysgenesis (Swyer Syndrome) is a rare cause for DSD with incidence ≈1:80000. It is characterised by defective formation of the gonads as a result of structural anomalies in the sex chromosomes or mutations in specific genes. In 20% of the patients deletion/mutation in SRY can be found. Mutations, deletions or duplications in other genes (NRD5A1, DHH, DAX1, WNT4, DMRT, etc.) are also reported. The phenotype is completely female and the d...

Background: The rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) is a long-known rare condition with a high morbidity and mortality rate, and still unknown etiology.Objective: We aim to present the clinical findings and treatment in a patient with ROHHAD syndrome.Case presentation: A 4-year-old girl had normal development until March 2022 whe...

Background: Rahman syndrome (RMNS) is an autosomal dominant overgrowth-intellectual disability syndrome caused by heterozygous mutations in H1-4 gene. Other frequent features reported in RMNS patients include: facial dimorphism, joint hypermobility, hypotonia, kyphoscoliosis, congenital heart defect, abnormal MRI image of brain and behaviour problems.Case presentation: We report a 11-year-old girl born from 3rd</sup...