ESPE Abstracts

Rendu-Osler-Weber syndrome (also called Hereditary Haemorrhagic Teleangiectasia) is an autosomal dominant disorder that results from multisystem vascular dysplasia. HHT syndrome has been described in association with autoimmune disorders, such as Hashimoto thyroiditis, lupus erythematosus, vitiligo, anti-phospholipidic syndrome and pernicious anaemia.We present the case of a 6 year old girl with Rendu-Osler-Weber syndrome who was referred for endocrinolo...

Introduction: The nutritional status of a child is essential for the overall development and in particular for the statural growth. It was previously reported that growth hormone (GH) administration in children with growth hormone deficiency (GHD) could have a beneficial effect on body mass index (BMI) in both underweight and overweight children, suggesting a complex interplay between nutrition and growth. Therefore, the aim of the study was to analyze the influence of BMI on ...

Autosomal dominant cutis laxa type 3 (ADCL3) is a genetic connective tissue disorder characterized by poor pre- and postnatal growth and, rarely, by systemic impairment. The aetiology of short stature is incompletely known, some of these patients reaching normal final height. Less than 50 cases were reported in the literature. We report the case of a male patient 3.2 years old who presented for endocrinological evaluation of short stature. His medical history reveals congenita...

Background: Floating Harbor syndrome (FGS) is a dominant autosomal genetic disorder characterized by facial dysmorphism, delay in language development and short stature associated with delayed bone age. Currently there are about 100 cases reported worldwide. Although the short stature is one of the main features of the FHS, its etiology is poorly understood. A limited number of cases reported growth hormone deficiency as a cause of short stature in FHS and the evolution during...