ESPE Abstracts

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...

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...

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 ...

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

Background: Pycnodysostosis is a very rare autosomal recessive skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature resulting in an adult height in males typically <150 cm and in females <134 cm. Bone-fragility and frequent fractures are present. There are few case-reports on the effects of GH treatment.Objective: To evaluate the effect and safety of GH in 6 patients wit...

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...