hrp0086p2-p714 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Autoimmune Hypoparathyroidism and Celiac Disease: A Rare Paediatric Association Outside an Autoimmune Polyglandular Syndrome

Gallo Francesco , Simeone Giovanni , Conte Pietro , La Torre Francesco , Moramarco Fulvio

Background: The association between primary hypoparathyroidism and celiac disease (CD) is uncommon in paediatrics, even more if they are not part of an autoimmune polyglandular syndrome (APS, almost exclusively type II). We describe a case of autoimmune hypoparathyroidism coexisting with celiac malabsorption.Objective and hypotheses: Valentina was a 7 year old female child when she was admitted in hospital because she had generalized seizures at home. Sh...

hrp0084p3-695 | Diabetes | ESPE2015

Intraosseous Infusion: Sometimes the Only Way to Treat Severe Diabetic Ketoacidosis

Gallo Francesco , Conte Pietro , La Torre Francesco , Calo Maria Alba , Moramarco Fulvio

Background: The diabetic ketoacidosis (DKA) represents one of the most frequent causes of death in childhood. The first therapeutic step is a quick rehydration, whereby a venous access must be ensured in every child with DKA, in order to infuse liquids immediately. The children conditions (state of shock, obesity) can make access extremely difficult. We present two cases of patients with severe DKA, where finding a venous access was almost impossible.Cli...

hrp0086p2-p273 | Diabetes P2 | ESPE2016

Lower Basal Insulin Dose – Better Control in Type 1 Diabetes

Strich David , Balgor Lucy , Gillis David

Introduction: There is no valid evidenced-based recommendation for the optimum basal insulin dose in type-1 diabetes mellitus when supplied either by continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). We studied this previously by evaluating the dose associated with successful fasting. Another way of looking at this is by evaluating the association between basal insulin dose and HbA1c. To this end we performed a retrospective study of 89 childr...

hrp0082p1-d2-254 | Thyroid (1) | ESPE2014

TSH: Different Normalization Methods, Very Different Normal Upper Limits

Strich David , Karavani Gilad , Gillis David

Background: Distribution of TSH levels is not normal. This is due to physiological changes that cause temporary increases in TSH during physiological events. Several methods are used to normalize the distribution when defining normal limits.Objective and hypotheses: To compare the normal limits defined by three normalization methods vs non-normalized distribution based on a large cohort with no known thyroidal illness.Method: Data ...

hrp0086p2-p839 | Syndromes: Mechanisms and Management P2 | ESPE2016

Evaluation of Referrals for Short Stature to a Regional Paediatric Centre

Yue David , Clarson Cheril

Background: Referrals to pediatric endocrine clinics for short stature are common. Height velocity (HV) is an essential component of the evaluation of short stature as growth deceleration often reflects an underlying pediatric endocrine diagnosis (PED). Access to previous measurements facilitates prompt calculation of HV.Objective and hypotheses: To determine availability of previous measurements at time of referral for short stature, to characterize PED...

hrp0092p3-295 | Late Breaking Abstracts | ESPE2019

A Novel Pathogenic Mutation of Vitamin-D-Dependent Rickets

Norberto Pin Jacopo , Cossettini Micol , Fabris Francesco , Martelossi Stefano

Background: Vitamin-D-dependent rickets 1A (VDDR-1A) is a extremely rare, autosomic recessive genetic form of rickets caused by a defect in vitamin D 1α-hydroxylase enzyme which leads to low levels of 1,25-(OH) vitamin D.Herein, we report two Moroccan sisters R.E. and N.E. (respectively 3 and 15 months old), born from consanguineous parents, who presented with psychomotor retardation and failure to thrive.<str...

hrp0089p3-p135 | Fat, Metabolism and Obesity P3 | ESPE2018

Cut-off for the Follow-up of Obese Children: Cynicism or Realism?

Gallo Francesco , De Quarto Giuditta , Lonero Antonella , Moramarco Fulvio

The majority of treated obese children fail the goals set in the medium-long term or do not show themselves up at the short term follow up. These results, which do not improve even with the proliferation of facilities aimed to the treatment of obesity and of its complications, pose serious questions on how to make the best use of scarce resources available by the National health system. We have visited, between 2013 and 2015, 378 seriously obese children (>2 DS from nation...

hrp0097p2-273 | Late Breaking | ESPE2023

Key parameters at puberty onset can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism

d'Aniello Francesco , Aung Yuri , Kokotsis Vasilis , R Howard Sasha

Introduction: Delayed puberty (DP), affecting over 2% of adolescents, is defined as pubertal onset 2-2.5 SDs later than the general population. The most common underlying aetiology is self-limited DP (SLDP). However, this can be difficult to differentiate from the more severe condition congenital hypogonadotrophic hypogonadism (HH), especially on first presentation of an adolescent patient with DP. This study sought to elucidate phenotypic and genotypic discre...

hrp0082p3-d3-757 | Diabetes (4) | ESPE2014

Pneumothorax, Pneumomediastinum, and Subcutaneous Emphysema: Complications of Severe DKA in T2DM Obese Patient

Ortolani Federica , Tummolo Albina , Torelli Cataldo , Masciopinto Maristella , Fedele Stefania , Nicastro Francesco , Papadia Francesco , Vendemiale Marcella , Piccinno Elvira

Case presentation: G. 15 years 8 months; H 180 cm; P 149.6 kg, BMI 46 kg/m2, second born, father obese, healthy mother and two brothers, no familiarity for T1DM/T2DM, no gestational diabetes. Bronchial asthma, since 2-year-old important weight increase. Flue, polyuria, polydipsia, 12 kg loss in 15 days, anorexia since 5 days, vomit. Hospitalized for tachycardia, dyspnea, and asthenia. On arrival: serious dehydration, Kussmaul breathing, neck subcutaneous emphysema, ...

hrp0095p2-34 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Optimal 25-OH-Vitamin D level in children derived from metabolic parameters

Gillis David , Hefter Ari , Edri Edri Shalom , Strich David

Context: Optimal levels of 25-OH-Vitamin D (25OHD) for children are unknown. Prevalent population levels of 25OHD are likely to be sub-optimal since sun exposure is reduced in modern living.Objective: To deduce recommended levels of 25OHD by testing, in children, the level at which 25OHD optimally effects calcium, phosphate and parathyroid hormone levels in a population-based data.Design:</...