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: Silver-Russell syndrome 5 (SRS5) is characterized by asymmetric intrauterine growth restriction (IUGR), poor postnatal growth, macrocephaly at birth and feeding difficulties. Other possible features include triangular shaped face, prominent forehead, hypertelorism, epicanthus, micrognathia, brachydactyly, clinodactyly of the 5th hand finger, and syndactyly of the 2nd and 3rd toe fingers. Pathogenic variants of the HMGA2 gene, on chromoso...

Introduction: Rapid-acting insulin analogues have been developed to mimic more closely the physiological action of endogenous insulin. However, they still have a delayed onset of action and a longer duration compares to endogenous insulin. Therefore, newer insulin analogues have been developed with a faster onset and a shorter duration of action.Aim: To evaluate the efficacy of rapid-acting insulin analogues (Novorapid) ...

Introduction: The selection of the insulin catheter length for pump T1D users is based mainly on age and though different sites for insertion have been suggested, it is not clear what the ideal site is according to each person’s body type and subcutaneous fat.Aid: Aid of the study is to identify the proper sites for insulin catheter insertion according to subcutaneous fat and anthropometric characteristics.Methods: Study group...

Case presentation: A 17 month old female child was transferred to our hospital from another hospital where she was admitted to the intensive care unit (ICU) due to cerebral edema, diabetic acidosis and severe dehydration. The patient had fever, polyuria, polydipsia and vomiting presented four days before admission. At her admission she was unconscious with dilated pupils, no reaction to painful stimuli (GCS 4/15) and Kussmaul breathing. Her initial blood glucose level was 391 ...

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: Few data exist for young children regarding the proper site for insulin catheter insertion for pump (CSII) users.Objective and hypotheses: To evaluate the proper site for catheter insertion in very young children (<8 year old) with T1D and CSII.Method: The study comprised 10 children [7 females, median age 4.43 years (range 2.3–7.18), median disease duration 1.65 years] with T1D who were on CSII. Ultrasound mea...

Background: GH replacement therapy in children with GH deficiency (GHD) mainly promotes linear growth. There are few studies fully analyzed the metabolic consequences of GH therapy.Objective and hypotheses: To study the effects of GH replacement therapy on glucose metabolism in patients with GHD.Method: Sixty two children {mean age (S.D. 8.6 (3.3,) years; 35 boys, 10 SGA, 50 prepubertal who were under treatment with ...