ESPE Abstracts

Keywords: Bariatric surgery, Pregnancy, Maternal obesity, Small for gestational age, fetal growth, Nutritional deficiencies.Background: Maternal obesity is known to have many detrimental effects on pregnancy. Bariatric surgery represents the most efficient therapy for severe obesity. Although it is known to positively impact many pregnancy outcomes, bariatric surgery can disturb fetal growth due to nutritional deficienci...

Objectives: The aim of the study was to evaluate the associations of metabolic status and eating behavior (EB) in young children and variants of energy metabolism genes.Materials and Methods: A longitudinal study of 106 children in the dynamics of the first 2 years of life was carried out. Groups of children were identified taking into account BW at birth (large-weight by gestation (n=50), underweight by gestati...

Background and aim: Congenital growth hormone deficiency (cGHD) is a rare but life-threatening condition whose diagnosis is challenging in the absence of reliable reference values, both in healthy neonates and in preterm ones. We recently estimated GH reference interval in 1036 healthy, at-term newborns (HN) form dried blood spot samples using a previously validated analytical method.Aim: of this study is to provide valu...

Introduction: Approximately 25% of congenital hyperinsulinism (CHI) patients are unresponsive to medical therapy. These cases are usually associated with inactivating ABCC8/KCNJ11 genes mutations or rarely with dominant GCK variants. Activating dominant mutations in the CACNA1D gene were recently found to cause mild form of CHI, muscle hypotonia and autistic features.Objectives: Herein we descr...

Background: There is limited knowledge about the natural history of growth in patients with congenital hyperinsulinism (CHI). The disease itself, as well as its treatment methods with common long-term sequalae in terms of pancreatic endocrine and exocrine dysfunction have the potential to affect growth. We investigated longitudinal height growth of CHI patients in a large Finnish cohort.Materials and methods: In this cro...

Introduction: In diabetic pregnancies, data about the interaction between maternal, placental, and fetal IGF1/IGFBP in relation to newborn size is not clear,Aim: To review research papers published in Pubmed, Google scholar, Research gate, and Scopus in the past 20 years on the relation between placental IGF1/IGFBP-1 and fetal/infantile/childhood growth in pregnancies associated with maternal diabetes.<p class="abste...

Background: Diazoxide therapy is used as first line treatment in hyperinsulinaemic hypoglycaemia (HH). Apart from a single study reporting efficacy of low dose diazoxide in small for gestational age (SGA) infants, diazoxide has been reported to be used in doses of 5-20 mg/kg/day [1].Objective: To report the outcomes of infants with HH responsive to low dose diazoxide (≤5mg/kg/day).Method...

Background: Severe diazoxide unresponsive hyperinsulinism (DUHI) is most often caused by autosomal recessive variants in the KATP channel genes. Because of the limited medical treatments available, many patients are treated with 98% pancreatectomy. This results in a high rate of diabetes by the age of 15 years. Many centers now try to avoid surgery to prevent the inevitable transition to post-surgical diabetes.Objectives:</strong...

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. Growth retarded fetuses gestated by hypoxic pregnant animals may present increments of...

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children and occurs in approximately 1 in 50,000 live births. Genetic testing provides information on the pancreatic histological subtype (i.e. focal vs diffuse) and determines further management and prognosis of the patients. At least 11 known monogenic forms and several syndromes have been associated with CHI. Mutations in ABCC8 and KCNJ11 genes coding pot...

Keywords: Preterm newborn, Small for gestational age, Thyroid hormones, Thyroid-stimulating hormone, Thyroid dysfunctions, Thyroid function tests.Background: A common cause of neurodevelopmental impairment in children is congenital hypothyroidism, but can be preventable with adequate screening and proper management. Preterm newborns are more likely to have thyroid dysfunction, with small for gestational age (SGA) being a...

Introduction: Neonatal hypoglycemia (NH) affects about 15% of all neonates and about 50% of neonates born with risk factors, including maternal diabetes, large- or small for gestational age, or prematurity. Although it is known that hypoglycemia in congenital hyperinsulinism can lead to brain injury, it is still not clear to what extent transitional NH is tolerated during the first days of life without brain damage. Thus, treatment thresholds and management st...

We recently assessed systolic heart function in children from IUGR and normal control pregnancies and reported early developmental impairment of left ventricular longitudinal strain – a sensitive echocardiographic measure – during the first 3 months of life in IUGR children. In accordance with previous studies, this suggest that the increased cardiovascular risk later in life imposed by IUGR/SGA may, at least to some extent, be primary and not entirely secondary to...

Introduction: Congenital hyperinsulinism (CHI) is the commonest cause of severe hypoglycaemia in early childhood but glycaemic characterisation remains scarce. Continuous glucose monitoring (CGM) offers a deep understanding of glycaemic control to understand disease burden, individualise patient care and inform therapeutic trials in CHI. Preliminary studies suggest inadequate accuracy and no efficacy of standalone CGM to reduce hypoglycaemia. Provision is hist...

Steroidogenic enzyme expression in the fetal adrenal and the placenta hints at the production and metabolism of adrenal-derived 11-oxy androgens (11OxyAs) in the fetal-placental unit. Thus, 11OxyAs are present in placental tissue, fetal cord blood and neonatal serum, and could have a particular role during fetal development. The metabolism of the 11OxyAs in the fetal unit, therefore, presents as a focal point of investigation. Adrenal androgens are primarily metabolized by the...

Introduction: The human fetal adrenals (HFA) produce high levels of steroids. The gland is distinguishable from the 7th gestational week and can be separated in two zones: the fetal zone in the center which correspond of 80 % of the gland and the definitive zone in the periphery. At this time of the development, neural crest cells are reaching the adrenal primordium, producing catecholamines. A third zone, the transitional zone appears later in the early 2nd t...

Background and aim: Pregnancy with diabetes mellitus is associated with obstetric and neonatal complications, including the development of fetal macrosomia. Fetal macrosomia of diabetic origin is characterized by a disproportionate distribution of subcutaneous fat with predominant localization in the upper half of the fetus body. The cause of excess fetal growth is maternal hyperglycemia, regardless of the type of diabetes in the mother. The aim of study was t...

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...

Key words: neonates, hypoglycemia, size for gestational age, gender, mode of delivery.Introduction: Neonatal hypoglycemia is one of the most common treatable metabolic disorders. Universal newborn screening for hypoglycemia is primordial in detecting persistent hypoglycemia and asymptomatic episodes in order to save neonates from adverse neurological outcomes and brain injury.Objectives:</s...

Introduction: Donohue syndrome (DS) is presenting as the most severe form of insulin resistance. Most of the patients are dying within the first two years of life. As potential treatment has been described the administration of rhIGF1 (Mecasermin) to stimulate the pathway of insulin-like action. An improved metabolic control was reported with continuous subcutaneous administration of rhIGF1 instead of twice daily injections [Plamper 2018].<p class="abstext...

Background: Hypoglycaemia is one of the most common presenting complaints at paediatric emergency department. There are many distinct causes of hypoglycaemia, ranging from nutritional insufficiency, infectious origins, to metabolic disorders. A thorough investigation can help differentiate the cause of hypoglycaemia, with subsequent tailored management. All patients with hypoglycaemia should have a full clinical assessment and together with a hypoglycaemia scr...

Background: Congenital hyperinsulinism in infancy (CHI) is the most frequent cause of persistent hypoglycemia in infants. The most common and severe form of monogenic CHI is caused by inactivating mutations in ABCC8 and KCNJ11 genes located on chromosome 11p15.1. On the ABCC8 gene; previous studies have shown that mutations were reported to be mostly localized in exon 28. There is no sufficient research in Egyptian population about different mutations in conge...

Objective: This study aims to evaluate the effectiveness and efficiency of weight-based threshold levels for 17-hydroxyprogesterone (17-OHP) in screening newborns for 21 hydroxylases deficiency-congenital adrenal hyperplasia (CAH)Design: In April 2021 CAH screening was incorporated into the ongoing newborn screening program at aga khan university Hospital Karachi Pakistan,17OHp was assayed through Spectro fluorometry of ...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Background: Nowadays, the role of minipuberty in influencing pubertal development is well documented. Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs) with reproductive toxic effect. Aim of this study is to assess phthalate exposure within the first months of life in a cohort of healthy term infants and their mothers and the possible relationship with minipuberty.Methods: Sin...

The ‘Developmental Origins of Health and Disease’ (DOHaD) hypothesis encapsulates the relationship between pre- and perinatal exposures causing altered growth and the development of later life disease. Mediators of this relationship have not been fully defined. We have used zebrafish [ZF] (Danio rerio) as a potential model for DOHaD, modifying expression of grb10a, an adapter protein that interacts with the insulin and IGF receptors, to act as a negative r...

Background: Transient hypothyroxinaemia of prematurity (THOP), defined as low levels of FT4 without the expected TSH surge, may concern up to 50% of infants born <30 weeks’ gestational age. Most studies showed a link between THOP and impaired neurodevelopment, as shown in the review of Eerdekens. Data about the benefit of supplementation are scarce, with few randomised trials and inconclusive results. To date, there are no clear recommendations regard...

Background: Human milk is considered the most advantageous source of nourishment for infants. Although there is a growing body of evidence showing that human milk feeding fosters early neurodevelopment, the underlying process is still not completely known. Indeed, clinical and animal research has linked human milk to enhanced myelination in the infant's central nervous system, however, access to human oligodendrocytes and neurons in the early stages of develop...

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

Direct relationships of estimated birth brain weight(BRW) to birth body weight (BW) ratios (BBR) and of BW<=10.th centile for GA(SGA) with blood serum Insulin-like Growth Factor-II(IG2) to blood serum Insulin-like Growth Factor Binding Protein-3 (IB3) ratios (IG2/IB3R), and inverse relations between BW-SDS and birth chest circumference(CC) / BW ratio (i.e., CC through BW; CC/BWR) have been detected by our group in the human newborn(NWB). We evaluated the possibility that CC...

Background and Aims: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is caused by mutations in the ACSF3 gene, which provides instructions for making an enzyme involved in the metabolism of fatty acids. As a result of the enzyme deficiency, individuals with CMAMMA experience an accumulation of malonic and methylmalonic acids in their blood and urine...

Introduction: Subcutaneous fat necrosis of the newborn (SCFN) is a self-limiting panniculitis which can develop in the first weeks of life. The disorder is characterized by firm, red or purple subcutaneous nodules and plaques on the trunk, buttocks, cheeks, and extremities and is associated with perinatal stress. SCFN may lead to hypoglycemia, anemia, thrombocytopenia, hypertriglyceridemia and hypercalcemia. The proposed mechanism for the hypercalcemia is extr...

Keywords: Pre-pregnancy BMI, gestational weight gain, pregnancy outcomes, neonatal outcomes.Background: Overweight and obesity epidemic is still expanding, and it is affecting women of childbearing age. Multiple studies have shown unmatched results concerning the effect of Body Mass Index (BMI) besides gestational weight gain (GWG) on pregnancy and neonatal outcomes.Objectives: Thi...

Background and aim: Prader-Willi Syndrome (PWS) is a rare disease with various clinical signs in different age periods. Early diagnosis has a proven benefit in PWS, allows for timely diet therapy and prevention of obesity, early administration of growth hormone. The purpose of the study is to analyze the features of neonatal adaptation in children with PWS, to evaluate the diagnostic efficacy in the dynamics of the analyzed period.<stron...