ESPE Abstracts

Background: The relationship of pre-treatment gene expression (GE) to long-term growth response in GHD is unknown. Prediction of long-term response to r-hGH therapy would allow better decision making about start and maintenance doses and hence cost:benefit.Objective and hypotheses: To assess the relationship of baseline GE to response to r-hGH over 5 years of therapy in GHD children.Method: Pre-pubertal children with GHD (n</em...

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life.Objective and hypotheses: In a longitudinal study, we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome from birth until after puberty. We propose that differences in birth weight lead to differences in hormone levels with effects on personality and cognitive functi...

Introduction: Growth promoting effects of GH occur in parallel with its impact on insulin sensitivity and lipid metabolism; underlying biological networks that link these actions are not defined. Our objective was to identify gene expression (GE) networks linking growth with metabolic responses in GH-treated children with GHD.Methods/design: Pre-pubertal children with GH Deficiency GHD (n=125) were enrolled from the PREDICT short-term (NCT002561...

Background: The effect of bisphosphonates in patients with severe osteopenia of prematurity is unknown in terms of either fracture prevention or long-term safety. A 6-month-old male infant born at 24+2 weeks gestation was referred for consideration of bisphosphonate therapy in the management of severe osteopenia of prematurity. The neonatal course included chronic lung disease requiring four courses of corticosteroids. Despite optimal calcium, phosphate and vitamin D supplemen...

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life. The influence of intrauterine conditions on personality might be underestimated.Objective and hypotheses: In a longitudinal study we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome (ttts) from birth until puberty.Method: 23 pairs of monozyg...

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal len...

Background: In addition to its function in circadian rhythm Melatonin plays an important role in energy metabolism and body weight regulation. In animals pinealectomy induces insulin resistance and administration of melatonin to diabetes prone rats ameliorates their glucose metabolism. Furthermore loss-of-function mutations of the melatonin receptor gene are associated with insulin resistance and DM II in humans.Objective and hypotheses: So far the effec...

Background: Children born small-for-gestational-age (SGA) especially when they experience rapid catch-up growth have an increased risk for obesity and metabolic disturbances later in life.Aims and objectives: Little is known about the effect of catch-down (c-d) growth and its effect on metabolic parameters in children born large-for-gestational-age (LGA).Patients and methods: 101 pre-pubertal children with a birth-weight and/or len...

Background: 46, XY-disorders of sex development (DSD) are due to different causes like androgen insensitivity, gonadal dysgenesis, defects in testosterone metabolism and others. Exact diagnosis is mandatory prior to medical advice, therapeutic steps, or even surgical procedures. To show the difficulties of gender assignment before and also after a correct diagnosis we describe a patient who waited 35 years for the complete diagnosis, but was advised, treated and operated befor...

Background: In congenital hyperinsulinism (CHI) 18F-DOPA PET CT plays an essential role in differentiating between focal and diffuse CHI forms and in the analysis of the localization of a potential focus before surgery.Objective and hypotheses: The aim of this retrospective analysis was the evaluation of the 18F-DOPA PET CT efficacy in a large cohort of CHI patients.Method: In the last few years 193 18</s...