Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 3

Perinatal and Neonatal Endocrinology

hrp0082p3-d1-874 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive KATP Channel Mutations

Demirbilek Huseyin , Arya Ved Bhushan , Ozbek Mehmet Nuri , Akinci Aysehan , Dogan Murat , Demirel Fatma , Houghton Jayne , Kaba Sultan , Guzel Fatma , Baran Riza Taner , Unal Sema , Tekkes Selahattin , Flanagan Sarah E , Ellard Sian , Husssain Khalid

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...

hrp0082p3-d1-875 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical Remission in a Patient with Congenital Hyperinsulinism due to Paternally Inherited Two Novel Mutations in KCJN11 Gene

Cebeci Ayse Nurcan , Houghton Jayne , Ellard Sian

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent and profound hypoglycemia in infants. There are two distinct histologic forms of CHI, diffuse and focal. The distinction between these forms is important in patients who fail medical therapy since surgical strategies may vary. Focal lesions occur due to paternally inherited recessive mutation in ABCC8 or KCJN11 genes with somatic loss of the maternal 11p15 region (paternal uniparental disomy). ...

hrp0082p3-d1-876 | Perinatal and Neonatal Endocrinology | ESPE2014

Biochemical Studies in Patients with Hyperinsulinaemic Hypoglycaemia

Otaibi Hessah Al , Senniappan Senthil , Alam Syeda , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) is characterized by the dysregulated secretion of insulin from the pancreatic β-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. The rapid diagnosis and avoidance of recurrent episodes of hypoglycaemia are vital in preventing brain damage.Objective and hypotheses: To assess if the serum insulin measured at the time of hypoglycaemia in neonates with HH could be co...

hrp0082p3-d1-877 | Perinatal and Neonatal Endocrinology | ESPE2014

Congenital Hyperinsulinism: Clinical and Molecular Characteristics of Brazilian Patients

Liberatore Raphael , Martinelli Carlos , Guerra Gil , Manna Thais Della , Silva Ivani

Background: Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in neonatal period. The inadequate secretion of insulin leads to high morbidity and mortality in those newborns. Despite the recent progress in the diagnosis and management of CH, until recently, the situation in Brazil has been that of early 1990’s. The epidemiology is unknown and state-of-the art management has not been available.Objective and hypothese...

hrp0082p3-d1-878 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical and Genetic Analysis of 95 Cases of Congenital Hyperinsulinism

Huang Shuyue , Gong Chunxiu , Su Chang , Qi Zhan , Wu Di , Cao Bingyan , Gu Yi , Li Wenjing , Liu Min , Liang Xuejun

Background: We want to know the clinical presentation and genetic mutation of congenital hyperinsulinism (CHI) patients in our country.Objective and hypotheses: To investigate the clinical outcomes and gene mutations related to CHI in our patients.Method: We studied the therapeutic outcomes of 95 cases of CHI and analyzed the associations between gene mutations and clinical features in 55 cases.Results: Among...

hrp0082p3-d1-879 | Perinatal and Neonatal Endocrinology | ESPE2014

Congenital Hyperinsulinism: a Single-Center Experience

Dogan Murat , Kaba Sultan , Bulan Keziban

Background: Clinically, hyperinsulinemic hypoglycemia (HH) can cause apnea, growth retardation and learning disorders. Early diagnosis and meticulous follow-up are of importance to prevent undesired neurological outcomes. Congenital hyperinsulinism results from eight distinct gene defects. These genes include ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, and UCP2. The most common causes are autosomal recessive mutations of ABCC8 and KCNJ11 genes (5).M...

hrp0082p3-d1-880 | Perinatal and Neonatal Endocrinology | ESPE2014

Persistent Hyperinsulinemic Hypoglycemia of an Infancy Carrying abcc8 arg598stop Mutation

Zhu Jianfang , Zhu Weifen , Wang Chunlin , Liang Li

Background: Congenital hyperinsulinism (CHI) is the most important causes of persistent hypoglycemia in infants during the first few days after birth.Objective and hypotheses: We report an 11-day-old female infant admitted with persistent hypoglycemia since 11 h after born.Method: Multiple tests and imageological examinations were used to detect the cause of hypoglycemia. A whole-body PET CT-scan with [⊃F]-L-di...

hrp0082p3-d1-881 | Perinatal and Neonatal Endocrinology | ESPE2014

A Case of Hyperinsulinism/Hyperammonemia Syndrome

Shim Young Suk , Jeong Hwal Rim , Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon

Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism (CHI) caused by a mutation in the GLUD1 gene. It is characterized by hyperinsulinemic hypoglycemia accompanying hyperammonemia.Objective and hypotheses: We report HI/HA syndrome with a 4-month-old male who hypoglycemic seizure.Method: A 4-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time...

hrp0082p3-d1-882 | Perinatal and Neonatal Endocrinology | ESPE2014

Project Episga: PreMeb Presentation, Subject Recruitment, and Initial Data

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Hoyo-Moracho Marta , Lorente-Blazquez Isabel , Lorente Raquel Gomez de Segura , Campos Dorleta Perez , Rodriguez-Rivera Victor Manuel , Macarulla-Arenaza Maria Teresa

Background: Up to 50% SGA did not do a proper catch up (for over/under) and may have implications in size, metabolic, cardiovascular. Arises: epiSGA – PreMeb Project. Global approach to study.Objective: Create clinical cohort of SGA for monitoring, assessment catch-up, use GHRH requirements, environmental/social factors and variables influence on clinical, laboratory and metabolic profiles in order to progress in the knowledge of natural history. Pr...

hrp0082p3-d1-883 | Perinatal and Neonatal Endocrinology | ESPE2014

Iodine Status in Pregnant, Lactating Mothers and their Infants and Effects of Iodine Supplementation

Zelinskaya Natalya , Mamenko Marina , Belykh Natalya

Background: Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Iodine deficiency during pregnancy and infancy may impair growth and neurodevelopment of the off-spring and increase infant mortality.Objectives: To evaluate effects of iodine supplementation in pregnant, lactating women and their infants at the East of Ukraine.Methods: Target group...

hrp0082p3-d1-884 | Perinatal and Neonatal Endocrinology | ESPE2014

Gender Differences in Sex Steroids and IGF1 at Birth and at 5 Years of Age

Allvin Kerstin , Karlsson Ann-Katrine , Ankarberg-Lindgren Carina , Dahlgren Jovanna

Background: Gender differences in sex steroids and IGF1 are well known from pubertal years into adulthood. Few studies report data from pre-school years.Objective and hypotheses: To study gender specific changes in sex steroids and IGF1 at birth and at 5 years of age and correlate these with auxological measurements. There are gender differences in IGF1 levels due to differences in sex steroids already at birth and during pre-school years.<p class="a...

hrp0082p3-d1-885 | Perinatal and Neonatal Endocrinology | ESPE2014

Neonatal Seizures Neonatal due to Hypocalcemia Secondary to Maternal Vitamin D Deficiency

Campos-Martorell Ariadna , Narvaez Karla , Clemente Maria , Yeste Diego , Mogas Eduard , Gerones Laura , Carrascosa Antonio

Background: Vitamin D is an essential hormone in the homeostasis of calcium. Its main source is sun exposure. Changes in lifestyle and migratory movements have favored the reappearance of vitamin deficiency in our country.Method: We present three cases of newborn with hypocalcemic seizures, secondary to maternal vitamin D deficiency. Mother’s origin was North Africa.Results: Case 1: 7 days old male brought for several episodes...

hrp0082p3-d1-886 | Perinatal and Neonatal Endocrinology | ESPE2014

3-Ketothiolase Deficiency Induced by ACAT1 Gene Mutation

Li Li , Min Zhu , Huiying Mao , Feng Xiong

Background: 3-Ketothiolase deficiency (3KTD) is an inherited error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms.Objective and hypotheses: To research the gene mutation of 3 acetoacetyl-CoA thiolase in non-diabetic ketoacidosis and provide a basis for diagnosis of 3KTD.To reveal the role of 3 acetoacetyl-CoA thiolase in i...