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,...

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....