ESPE Abstracts

Background-Aim: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroidogenic pathway of the adrenal cortex. In their most severe forms, they produce adrenal insufficiency and virilization of external genitalia when involving the terminal enzymes of the cortisol and aldosterone synthesis pathway (21-hydroxylase (21-OHD, OMIM#201910) and 11-hydroxylase (11-OHD, OMIM#202010) deficiencies). Mutations of <e...

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Low BW and hypoxia may be associated with circulating Insulin-like Growth Factor-I(IG1...

We present the cases of a 3 yo girl diagnosed with precoccious puberty, with a personal history of premature telarchy, genital hair development and vaginal blood discharge at 1yo 2mo, currently in treatment with GnRH agonist, and the case of her younger sister, aged 1 yo, who also presented with premature telarchy. They have 2 older siblings, both of them are clinically healthy boys. Their mother and paternal aunt had normal pubertal development. No other history from females ...

Introduction: Peripubertal children with delayed puberty frequently display a poor growth rate prompting endocrine work-up. Whether priming with sex steroids should routinely be performed in these patients to improve specificity of growth hormone stimulation tests (GHST) is unclear. Treatment with sex steroids in constitutional delay of growth and puberty (CDGP) is also debated.Patients and Methods: This multicenter retr...

Introduction: Oral/enteral caloric intake (KOE) insufficiency may accompany human newborn (NWB) respiratory derangements. We detected axillary temperature(TEMP) relations to NWB blood serum Insulin-like Growth Factor-II(IG2)-blood serum Insulin-like Growth Factor-Binding Protein-3(IB3) ratios(IG2/IB3R). Here we evaluate the TEMP-independent relevance of birth gestational age(GA) and KOE to relationships of O2 supplementation in respiratory gases(O2S) with IG2/...

Background: Pediatric obesity is the most common nutritional disorder that affects more than a third of the young population and predisposed individuals to greater future morbidity and mortality. Therefore, rising obesity epidemics becomes is becoming one the most important healthcare problems.Methods: In the period of 2017-2018, 62 consecutive pediatric patients referred to the University Pediatric clinic were recruited...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...

Introduction: X-linked hypophosphatemia (XLH) is a rare, inherited disease that affects approximately 1 in 20,000 individuals. XLH is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Children with XLH experience abnormal bone development, rickets, osteomalacia, impaired growth, dental abscesses, craniosynostosis ...

Introduction: Body temperature determinants include head-brain thermal homeostatic mechanisms and, in the human newborn (NWB), birth gestational age (GA). Estimated birth brain weight (BRW) ratio to birth body weight (BW)(BBR) resulted associated with GA and blood serum Insulin-like Growth Factor (IGF)-II(IG2) ratio to blood serum IGF Binding Protein-3 (IB3)(IG2 through chronologically-corresponding IB3, IG2/IB3R) in our previous NWB observations. Here we evaluate BRW, BW, BBR...