ESPE Abstracts

Background: Congenital isolated ACTH-deficiency is a rare disorder characterized by low plasma ACTH and cortisol levels and normal secretion of other pituitary hormones. TBX19 is a t-box transcription factor with a specific role in the differentiation of corticotroph cells. TPIT gene mutations can be found in early onset isolated ACTH deficiency.Case report: We report on a 2; 6 year old girl, offspring from consanguineous parents from Turkey, born at 40 ...

Background: Neonatal over-nutrition (NON) can have a long-term effects on energy homeostasis and some of these effects may be sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and cytokine levels throughout development and if these changes are sexually dimorphic. We hypothesised that the effects would be both age and sex dependant.Methods: At birth, Wistar rats wer...

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

Background: Obesity is characterised by excessive fat accumulation coursing with a chronic mild inflammatory state, with adipose tissue (AT) being the main site of increased systemic cytokine production. Increased adiposity early in life is the main risk factor for cardiometabolic disorders later in life, with the abnormal accumulation of lipids in AT leading to the production of pro-inflammatory cytokines. Inflammatory process that involves metabolic and card...

Background: Specific measurement of low serum / plasma concentrations of 17β-estradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. However, there is still a gap in available reference intervals (RIs) for E2 in paediatrics. The study was partially funded by the German Ministry of Health, grant number 2519FSB503.Objective: First, we technically developed a highly sensit...

Uncontrolled diabetes mellitus is a disease with a wide range of systemic complications. Eye complications may seriously threaten quality of life. Diabetic retinopathy is the most frequent diabetic ocular complication. However, diabetic capilaropathy is a little known condition of diabetic retinopathy. It is an acute optic disc edema and/or macular edema; due to an acute hyperglycaemia.Method: We present a case of a diabetic 14-years-old female with diab...

Background: The primary goal of treatment is to achieve a final height within the normal range and avoid the physical and psychological consequences of short stature (SS). If after a time, treatment efficacy criteria are not achieved, it is necessary to revalue its usefulness. There is no consensus about which conduct should be adopted in these cases. An alternative, is the suspension of rhGH treatment and evaluate the clinical and biochemical results to decide to continue or ...

Background: 2015 ATA Guidelines for management of medullary thyroid cancer (MTC) include C634 RET codon mutation in ‘High risk’ group, recomendating prophylactic thryroidectomy before 5 years old based on serum basal calcitonin levels (SBCt).Objective and hypotheses: We present 14 pediatric patients with C634 RET codon mutation, who underwent prophylactic thyroidectomy in our center, their clinical and analytical features and anatomopathologica...

Background: The use of antipsychotic medication in medical practice is increasing in Europe. Antipsychotics have serious adverse effects like weight gain.Objective: Aim was to explore metabolic risk factors and glycaemic control in youths with type 1 diabetes treated with typical or atypical antipsychotics.Design and methods: Data of children, adolescents, and young adults with type 1 diabetes up to the age of 25 years and with dia...

Background: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. This can be ameliorated by administering dexamethasone to the mother.Case: This is a family whose index case is a first son diagnosed by Madrid Newborn Screening Program of CAH with salt-wasting form due to 21-hydroxylase deficiency. Mutation analysis revealed: ‘hybrid deletion’ ...