ESPE Abstracts

Background: Hereditary multiple exostoses (HME) is an autosomal dominant heritable disorder characterized by exostoses located mainly in the long bones of extremities. HME is caused by mutations in two genes: EXT1, EXT2.Objective and hypotheses: Growth hormone (GH) deficiency is very rare in children with HME and GH replacement therapy has not been well described.Method: A 12.5 years old girl was referred to our Department because ...

Background: Arnold-Chiari malformations (CM), types I-IV, refer to a spectrum of congenital hindbrain maldevelopments characterized by downward herniation of the cerebellar tonsils. CM-I is defined as tonsillar herniation of 3–5 mm below the foramen magnum and is the most common and the least severe of the spectrum.Objective and hypotheses: Children with CM-I usually are asymptomatic and often diagnosed in adulthood, therefore early presentation of ...

Background: Wolf–Hirschhorn syndrome (WHS) is caused by variably-sized deletion of chromosome 4 involving 4p16 whose typical craniofacial features are ‘Greek warrior helmet appearance’ of the nose, microcephaly and prominent grabella. Almost all patients show mental retardation and growth delay.Case presentation: We report on a patient carrying a 4p16 deletion and GH deficiency treated with recombinant human GH (rhGH). The patient is male,...

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, caused by genetic mutation of NF1 gene in chromosome 17q11.2, with a worldwide incidence of approximately 1 in 3000 people. It is caused by de novo mutation, in about 50%. This is a multisystemic disease, presenting with café-au-lait spots, axillary freckling, skeletal dysplasia and neural crest tumors (benign neurofibromas usually). Autoimmune disease associated with NF1 c...

Background: Vitamin D status in children with isolated GHD has been analyzed in few studies with controversial results. The aim of the study was to assess vitamin D status in children with idiopathic GHD in North and Central Greece.Materials and methods: 128 children (M/F: 76/61, mean age 9.5 (S.D.±3.5 years) with isolated GHD were compared with 65 controls (M/F: 46/3, mean age 9.3 (S.D.±3.2 years). Children were d...

Background: It has been suggested that Vitamin A intake may affect height velocity in children with GH deficiency (GHD) who were under GH replacement (GHR).Objective and hypotheses: Aim of the study was to evaluate vitamin A levels in GHD children under GHR.Method: Vitamin A levels were measured in 38 children (23 males, mean age 10.8 (S.D. 3.3) years) with GHD, after mean duration of GH treatment of 3.1 (S.D....

Objective: This case report emphasizes the significance of early clinical examination in a pediatric endocrinology clinic for the diagnosis of Williams-Beuren Syndrome (WBS). WBS is a rare genetic disorder typically caused by a deletion in the chromosomal region 7q11.23. This deletion results in the loss of 25-27 genes, including the elastin gene. It is characterized by growth delay, mild intellectual disability, behavioral issues, cardiac diseases (mainly sup...

Objective: Children who are small for gestational age (SGA) and do not exhibit compensatory growth by the age of 4 years have been shown to benefit in their final height from growth hormone (GH) therapy. The GH-IGF1 axis stimulates physical growth, regulates metabolism and cardiovascular functions. Only one case of a child with GH deficiency presenting with atrioventricular (AV) block during GH therapy has been reported to date. Here, we describe the occurrenc...