ESPE Abstracts

Gonadotropin releasing hormone (GnRH) neurons embryonically originate in nasal placode and migrate to hypothalamus, where they release GnRH to control reproduction. Defective GnRH neuron development or function leads to GnRH deficiency (GD), which is often associated to neurodevelopmental and neurological syndromes, including epilepsy, ataxia, intellectual disabilities and deafness. In addition, a register-based study showed correlation between delayed puberty and neurodevelop...

Background: In the last decades a rapid increase in the incidence of childhood type I diabetes (TIDM) has been reported worldwide. To stop the progressively advancing process immunosuppressive and nutritional trials have been made, but failed. Epidemiological studies by our group performed in several countries have shown that the season during which children who developed TIDM were born differed from that in the general population; suggesting that the initial trigger for TIDM ...

Background: Child growth is a dynamic process and influenced by various environmental factors. When measured at short intervals, growth of healthy children shows certain characteristic patterns, which have rarely been studied, but are of great importance for clinical purposes. The study was approved by the Ethical Committee of the University of Potsdam.Aim: To see whether measurements of height using photographic display...

Background: Body composition measures differ between DEXA scanners. If an old DEXA is replaced a transition period for double measurements on the old and the new scanner is needed.Objective and hypotheses: To evaluate differences between the old (Hologic QDR 2000) and new (Hologic Discovery Wi) scanner and to calculate formula transforming measurements.Method: 51 double measurements were performed on a group of 41 children and adul...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...

Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability affecting postnatal growth. Mutations in human PAPP-A2 cause short stature and changes in bone size and mineral density. The present study aimed to characterize the effects of constitutive Pappa2 gene deletion on hypothalamic regulation of energy homeostasis in adult male and female mice. In addition to being sho...

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

Background: Children and adolescents with chronic conditions are at increased risk of secondary osteoporosis. In adult patients, long-term anticoagulation (LTA) including Vitamin K antagonist (VKA) treatment is associated with lower bone mineral density and hip fractures. In children and adolsescent, risk factors for impaired skeletal health and the role of LTA on bone metabolism during the vulnerable phase of linear bone growth remain poorly defined.<p cl...

The homeostatic control of energy balance is tightly regulated. Appetite and energy expenditure regulation involves neurons in the hypothalamus as well as other brain regions, including the limbic system, amygdala and the brainstem. Hypothalamic obesity is a well-recognized consequence of lesions such as craniopharyngiomas and other tumors in the hypothalamic region. Less known is obesity related to tumors in other brain regions. The child presented at 14 years of age with fai...

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, ...