ESPE Abstracts

Introduction: Subcutaneous fat necrosis of the newborn (SCFN) is a self-limiting panniculitis which can develop in the first weeks of life. The disorder is characterized by firm, red or purple subcutaneous nodules and plaques on the trunk, buttocks, cheeks, and extremities and is associated with perinatal stress. SCFN may lead to hypoglycemia, anemia, thrombocytopenia, hypertriglyceridemia and hypercalcemia. The proposed mechanism for the hypercalcemia is extr...

Background: The growth process that transforms a newborn into an adult implies that there is not only an increase in height but above all a constant change in body proportions. Knowledge of the body proportions gives insight into the natural process of maturation and any disturbance can be used as a diagnostic tool.Objective and hypotheses: Manual measurement of body dimensions is a highly time-consuming procedure requiring a variety of measurement tools...

Background: An accurate prediction of final height after the first year of growth hormone (GH) treatment may help clinicians to give parents and children more realistic expectations.Objective and hypotheses: To validate two prediction models (with and without max. GH peak) for near final adult height (nFAH) by Ranke et al.Method: Height data of 142 (93 male) idiopathic GH deficient (iGHD) children, treated with GH for at l...

Background: Several definitions of poor growth response to first-year GH treatment, have been proposed based on the observed response of a large group of patients.Objective and hypotheses: Since a complete compensation of the height deficit is expected in children with GH deficiency (GHD) treated with GH, we have studied the different parameters for the first-year growth response in relation to the adult height gain in prepubertal children with iGHD....

Background: Wolfram syndrome features diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness (DIDMOAD). Especially the neurological degeneration usually leads to a very poor prognosis. We present two cases of Wolfram syndrome, an autosomal dominant and an autosomal recessive type, caused by heterozygous mutations in the WFS1 gene.Case report: Case 1: a 13-year-old girl with a history of progressive sensorineuronal hearing loss ...

Background/Aim: Several criteria for the first year growth response (FYGR) to growth hormone (GH) treatment have been proposed. We explored which FYGR criteria predict best the final height outcome after GH treatment in prepubertal children with GH deficiency (GHD).Methods: Height data of 129 GHD children (83 boys) treated with GH for at least 4 consecutive years with at least 1 year before pubertal onset, were retrieved...

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

Introduction: Health related Quality of Life (QoL) outcome is used as an argument when continuation or stopping growth hormone (GH) treatment is considered in patients with idiopathic isolated growth hormone deficiency (IIGHD) who tested GH sufficient in mid-puberty (inclusion moment for this study).Aim: To assess potential differences in QoL between patients with IIGHD who discontinued treatment and those who continued ...