ESPE Abstracts

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....

Introduction: The hypothalamic melanocortin-4 receptor (MC4R) pathway plays a vital role in energy balance. Genetic defects in the MC4R pathway may result in severe early onset obesity.Objective: The TEMPO registry (NCT03479437) aims to identify and enroll approximately 1000 participants with rare genetic forms of obesity that are potentially related to key genes, upstream or downstream, of the MC4R. In addition, the TEMPO registry will evaluate the burd...

Background: POMC deficiency is an extremely rare monogenetic obesity syndrome generally characterized by early onset hyperphagia, red hair and adrenal insufficiency. So far treatment of obesity and hyperphagia with MSH substitution failed, either due to ineffectiveness or side effects of available MC4R agonists.Objective and hypotheses: We hypothesized that the new MC-4R agonist setmelanotide might be a treatment option in POMC deficient patients.<p ...

Background: Congenital adrenal hyperplasia (CAH) is characterized by cortisol deficiency and hyperandrogenism. Both hyperandrogenism and treatment with supraphysiological doses of glucocorticoids may cause unfavorable changes in the cardiovascular risk profile of CAH patients. Data on the cardiac function in CAH patients is scarce.Objective and hypotheses: To evaluate the cardiac function in pediatric CAH patients.Method: The cardi...

Background: Spinal Muscular Atrophy (SMA) is characterised by progressive muscle weakness, resulting from loss of anterior horn cells in the spinal cord and the brain stem nuclei. Survival motor neuron levels (SMN) are reduced due to mutations in the SMN1 gene. SMN function has been implicated in poor bone health. SMA is classified according to age of onset and clinical course accordingly: type 0 (prenatal), type 1 (onset <6 months, severe, never sit unsupported), type 2 (...

Background: Multiple endocrine neoplasia type I (MEN1) is characterized by the combined occurrence of tumours in several endocrine tissues such as parathyroid tumours, pituitary tumours (usually prolactinomas) and pancreatic neuroendocrine tumours. MEN1 is an autosomal dominant disorder caused by germline mutations in the tumour suppressor gene MEN1. First-degree relatives of a germline MEN1 mutation carrier have a 50% risk of the mutation. Intensive surveillance of g...

Objectives: GH deficiency (GHD) and small for gestational age (SGA) status are associated with cardiovascular risks. We therefore investigated antiatherogenic effects of GH.Methods: Subfractions of LDL and HDL, lipoprotein-associated phospholipase A2 (Lp-PLA2), and high-sensitivity C-reactive protein (hsCRP) were measured at baseline, after 8 and 52 weeks of GH treatment in 51 short children born SGA (n=33) or with GHD (n=18).<p cla...

Background: Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance (MR). Neonatal manifestation leads to life-threatening dehydration due to massive salt-loss, acidosis and frequently, failure to thrive. Two clinically and genetically distinct forms exist, namely systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and mineralocorticoid recep...

Background: >There is a wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Three groups of ...

Keywords: Congenital Adrenal Hyperplasia, Parent’s experience, Focus Group DiscussionBackground: Congenital Adrenal Hyperplasia (CAH) leads to many unseen social burdens for parents, including ambiguous genitalia (in girls), lifelong use of medication, including stress dosing, social and psychological pressure, and stigmatization. This study aimed to investigate various lived experiences of parents caring for their...