ESPE Abstracts

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

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/...

Introduction: Human newborn(NWB) respiratory derangements may be concomitant to oral/enteral caloric intake (KOE) insufficiency. We evidenced a possible involvement of axillary temperature(TEMP) in relationships between preterm birth (PTB) and blood serum Insulin-like Growth Factor-I(IG1) in NWBs. Here we evaluate the TEMP-independent role of birth gestational age(GA) and KOE in relations of O2 supplementation in respiratory gases(O2S) to IG1 in the not-life-t...

Liquid chromatography associated with tandem mass spectrometry (LC-MS/MS) is currently considered the gold standard for steroid measurement. The aim of this study was to compare traditional immunoassay and LC-MS/MS methods for androgens measurement before and after human recombinant chorionic gonadotrophin (hrCG) stimulation in children with diagnosis of disorder of sex development (DSD) with 46,XY karyotype and past of normal testosterone secretion. We evaluated 19 patients, ...

Introduction: Pediatric obesity is a global public health problem that is associated with severe cardiometabolic consequences. Weight management interventions focusing on lifestyles have shown some promising results, but attrition rates are often high and reasons for dropout are poorly understood.Objectives: We aimed toestimate the prevalence, and identify the determinants of attrition among pediatric participants in the first year of a 2-year lifestyle ...

Introduction: Preterm delivery may comport blood serum Insulin-like Growth Factor-I (IG1) decrements and lower body temperature during the first days of postnatal life of the human newborn (NWB). We evaluated the role of preterm delivery in associations between axillary temperature (TEMP) and IG1 in NWBs without life-threatening disease.Methods: NWBs with any among total parenteral nutrition, blood transfusion, therapeutic hypothermia, life-threatening d...

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...

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

Background: Birth chest circumference (BC) may be related to Insulin-like-Growth-Factor-I blood serum levels (IG1) in the human newborn (NWB).Objective and hypotheses: We evaluated the relevance of birth body weight (BW) to birth crown-heel length (BL) ratio (BW through BL, BW/BL) in BC relations to IG1 after control for BW for birth gestational age (GA)<=10th centile (SGA), respiratory oxygen supplementation (O2S) and assisted ventilation of any kin...