Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

ePoster Category 1

Fetal Endocrinology and Multisystem Disorders A

hrp0094p1-71 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Morning salivary cortisol and stress response in term and preterm infants hospitalized in the intensive care unit.

Olszewska Marta , Kwinta Przemko ,

Background: Newborns admitted to the intensive care unit (ICU) are exposed to multiple painful and stressful procedures. It is postulated that high pain exposure in the first weeks of life can have a long-lasting impact on the hypothalamic-pituitary-adrenal (HPA) axis. Assessment of the salivary cortisol (SC) is a useful method for non-invasive monitoring of baseline activity and stress response of HPA axis.Objective: An...

hrp0094p1-72 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Clinical characteristics of children with Congenital Hyperinsulinism: Results from the European Registries for Rare Endocrine Conditions (EuRRECa) Project

Plachy Lukas , Bryce Jillian , Mohnike Klaus , Gan Hoong-Wei , Shaikh Guftar , Rozenkova Klara , Mozzillo Enza , Maltoni Giulio , Navardauskaite Ruta , Casteels Kristina , Stuart Annemarie Verrijn , Dastamani Antonia , Empting Susann , Verkauskiene Rasa , Ahmed S. Faisal , Sumnik Zdenek ,

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...

hrp0094p1-73 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Minipuberty in born small for gestational age infants: a case control prospective pilot study

Pepe Giorgia , Calafiore Mariarosa , Velletri Maria Rosa , Corica Domenico , Aversa Tommaso , Mondello Isabella , Alibrandi Angela , Wasniewska Malgorzata ,

Objective: Minipuberty (MP) is still not well defined in small for gestational age (SGA) infants, due to controversial literature data. The present study aims to evaluate MP in SGA infants, both preterm and full-term, compared with those born adequate for gestational age (AGA), during the first year of life.Design: Case-Control, Prospective Study.Methods: The study population included 33 SGA newbor...

hrp0094p1-74 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Pancreatic glucagon-like-peptide-1 receptor expression in congenital hyperinsulinism

Gubaeva Diliara , Proshchina Alexandra , Krivova Yuliya , Melikyan Maria ,

Background: Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycaemia. Current treatment lacks efficiency, and so are methods for differential diagnosis of diffuse and focal histological forms. Novel diagnostic and treatment approaches with the use of another hormone – glucagon-like-peptide-1 (GLP-1) – have been developed. GLP-1 is one of the key factors for maintaining euglycaemia. It stimulates insulin secretion...

hrp0094p1-75 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Congenital hyperinsulinism diagnosed after 12 months can have a monogenic aetiology

Hopkins Jasmin , Childs Alexandra , Hewat Thomas , Patel Kashyap , Houghton Jayne , Johnson Matthew , Laver Thomas , Flanagan Sarah ,

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

hrp0094p1-76 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Hyperinsulinemic Hypoglycemia in a child with Peroxisomal Biogenesis Disorder due to a Novel PEX1 mutation

Lohiya Nikhil , Morris Andrew , Didi Mohamed , Senniappan Senthil ,

Introduction: Peroxisomal biogenesis disorders - Zellweger Syndrome Spectrum (PBD-ZWS) are rare disorders involving multiple systems including the central nervous system, adrenals, liver and skeleton but hyperinsulinism is not a recognized association. We present a child with PBD-ZWS due to a novel mutation in PEX1 who developed hyperinsulinaemic hypoglycaemia (HH).Case report: A 7 month old boy presented with recurrent hypoglyc...

hrp0094p1-77 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Real-Time Continuous Glucose Monitoring in the Management of Neonates with Persistent Hypoglycemia

Win Myat , Beardsall Kathy , Thankamony Ajay , Beckett Rowan ,

Background: Persistent hypoglycaemia is common in the newborn, due to prematurity or congenital hyperinsulinism (CHI) and is associated with the risk of poor neurodevelopmental outcome. Adequate monitoring is critical in prevention but is dependent on frequent blood sampling. Continuous glucose monitoring (CGM) is increasingly being used in children with type 1 diabetes mellitus who also are at risk from hypoglycemia, but use in neonatology remains limited. Pr...

hrp0094p1-78 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Hyperinsulinemic hypoglycemia due to biallelic mutations in the DNAJC3 gene

Gurpinar Tosun Busra , Menevse Tuba Seven , Esen Nisa , Turan Serap , Yesilyurt Ahmet , Guran Tulay , Bereket Abdullah ,

Background: DNAJC3 is an endoplasmic reticulum (ER) co-chaperone involved in folding/processing of secretory and transmembrane proteins. The defect in the ER co-chaperone proteins impairs adaptive ER responses and leads to apoptosis, impairment of organ function with multisystemic involvement. Biallelic mutations in the DNAJC3, described in a limited number of cases cause multiple endocrine dysfunction and neurodegeneration of nervous system.<p cl...

hrp0094p1-79 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Concurrent hyperinsulinism and hypopituitarism in a 22 month old child due to a novel FOXA2 mutation

Kilci Fatih , Hurmuzlu Kozler Selen , Jones Jeremy , Ceylaner Serdar , Mine Cizmecioğlu Jones Filiz ,

Introduction: Co-existence of congenital hypopituitarism and congenital hyperinsulinemia is extremely rare. We present a case of congenital hypopituitarism and hyperinsulinemic hypoglycemia with a novel FOXA2 mutation.Case: A 22-month-old girl was referred to pediatric endocrinology due to short stature. She was the first child of healthy, non-consanguineous parents with no relevant family history. Delivery was by cesarean secti...

hrp0094p1-80 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Sphingosine 1- phosphate lyase insufficiency syndrome (SPLIS) as a cause of primary adrenal insufficiency and primary hypogonadism

Kwong Ruth , Maharaj Avinaash , Metherell Lou , Prasad Rathi ,

Sphingosine 1-phosphate lyase insufficiency syndrome (SPLIS) was described in 2017 as a novel condition affecting sphingolipid metabolism, with bi-allelic loss of function mutations in SGPL1. There is a multisystemic phenotype including steroid resistant nephrotic syndrome and primary adrenal insufficiency (PAI) and to a lesser extent ichthyosis, neurological disease and lymphopenia. Hypogonadism is described amongst some affected patients. To interrogate the steroid ...