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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Perinatal Endocrinology P2

hrp0086p2-p570 | Perinatal Endocrinology P2 | ESPE2016

Genotype and Phenotype of 99 Vietnamese Patients with Congenital Hyperinsulinism

Vu Dung , Dang Anh Duong , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Ngoc Khanh , Nguyen Phu Dat , Tran Minh Dien , Flanagan Sarah E , Ellard Sian

Background: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of th...

hrp0086p2-p571 | Perinatal Endocrinology P2 | ESPE2016

The Effects of Serum Insulin, Leptin, Ghrelin, Adiponectin and Resistin Levels on Early Postnatal Growth in Small for Gestational Age Newborns

Orbak Zerrin , Kara Mustafa

Background: Adipose tissue acts as an endocrine organ, secreting biologically active molecules in response to external stimuli or lipid overloading. These adipose tissue-derived signaling molecules include adipokines such as leptin, adiponectin and resistin (4). On the other hand, ghrelin is the hunger hormone and an endogenous growth hormone secretagogue.Objective and hypotheses: This study aimed to investigate the relation between weight gain and serum...

hrp0086p2-p572 | Perinatal Endocrinology P2 | ESPE2016

Sirolimus Therapy in Infant with Congenital Hyperinsulinemic Hypoglycemia Unresponsive to Diaxoside

Garfias Carolina , Godoy Claudia , Rumie Karime , Lacourt Patricia , Basaure Javiera , Garcia Angelica

Background: Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe, persistent neonatal hypoglycemia. Treatment of diffuse forms that is unresponsive to diazoxide and octreotide is near total pancreatectomy.Objective: To describe the clinical characterization of a newborn with congenital HH due to a diffuse pancreas lesion and unresponsive to diaxoside.Case report: Preterm term male of 33 weeks born to non-consanguin...

hrp0086p2-p573 | Perinatal Endocrinology P2 | ESPE2016

IPEX Syndrome Caused by A Novel Mutation in Foxp3 Gene: A Case Report

Bich Ngoc Can Thi , Chi Dung Vu , Phuong Thao Bui , Ngoc Khanh Nguyen , Thanh Mai Do Thi , Johnson Matthew , De Franco Elisa , Ellard Sian

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...

hrp0086p2-p574 | Perinatal Endocrinology P2 | ESPE2016

Use of a Cord Blood F-Dex Monocyte Binding Assay to Study the Glucocorticoid Sensitivity in Premature Neonates

Madubuko Adaora , Giuliano Michael , Al-Khan Abdulla , Alvarez Manuel , Alvarez-Perez Jesus , Balboul Sarah , Aisenberg Javier , Ghanny Steven

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

hrp0086p2-p575 | Perinatal Endocrinology P2 | ESPE2016

Persistent Hyperinsulinemic Hypoglycemic of Infancy

Fathalla Omalmir Gedafi , Doggaha Milad , Algazir Nadia , Hadeed Ibtisam , Algouil Milad , Abusrewil Suliman

Background: Persistent Hyperinsulinemic Hypoglycemic of Infancy (PHHI) is a clinically and genetically heterogeneous disorder with familial and sporadic form due to dysregulation of insulin secretion, PHHI is a severe disease that leads to brain damage. In diffuse type near total pancreatectomy has become the mainstay of surgical therapy for patients with PHHI who did not respond to medical therapy.Objective and hypotheses: To early detected cases of PHH...

hrp0086p2-p576 | Perinatal Endocrinology P2 | ESPE2016

The Postnatal Effect of Serum Vitamin D Binding Protein on Serum Vitamin D Level

Doneray Hakan , Yesilcibik Remziye Seda , Laloglu Esra , Orbak Zerrin

Background: It is not an uncommon situation that newborns have normal serum Ca, P, Mg, ALP, and PTH levels despite low vitamin D. Serum vitamin D binding protein (VDBG) may play a role for this situation. However, there is no any study investigated the relationship between serum vitamin D and VDBP in postnatal period.Objective and hypotheses: The aim of this study is to examine the relationship between serum vitamin D level and VDBP in neonates who have ...

hrp0086p2-p577 | Perinatal Endocrinology P2 | ESPE2016

Endocrinologists Have A Role in Moderating Adverse Metabolic Consequences of Early Over Feeding of Children Born IUGR

Zacharin Margaret

Background: Intra uterine growth retardation (IUGR) is well recognized to result in infants born small for gestational age (SGA). Early morbidity is followed by increased lifetime risks for health problems, particularly in the 10% of IUGR infants who fail to catch up. Risks include metabolic syndrome with obesity, insulin resistance, abnormal glucose metabolism, hypertension, dyslipidaemia, T2DM. Rapid weight gain in infancy is associated with increased incidence of later obes...

hrp0086p2-p578 | Perinatal Endocrinology P2 | ESPE2016

Primary Hyperparathyroidism in Children and Adolescents: About a Series of Ten Patients

Fedala Nora Soumeya , Haddam Ali El Mahdi , Meskine Djamila

Background: Primary hyperparathyroidism (PHPT) in children and adolescents is rare. Sporadic forms are more frequent and correspond, usually, with an adenoma (73%). Most rare familial forms (7%) are related to hyperplasia. They may be isolated or integrate with multiple endocrine neoplasia (MEN). The PHPT is revealed mostly by chronic bone pain increased by pressure, walking and exercise, arthralgia, growth failure and nonspecific late deformities.Object...

hrp0086p2-p579 | Perinatal Endocrinology P2 | ESPE2016

The Effects of Serum Leptin, Ghrelin, Adiponectin and Resistin Levels on Early Postnatal Growth in Infants of Diabetic Mothers

Kara Mustafa , Orbak Zerrin

Background: The exact mechanisms on growth are not fully eluciated, but they involve insulin resistance, fetal hyperleptinemia, hypothalamic changes. The adipose tissue-derived signaling molecules include adipokines such as leptin, adiponectin and resistin. On the other hand, ghrelin is the hunger hormone and an endogenous growth hormone secretagogue.Objective and hypotheses: This study aimed to investigate the relation between growth and serum insulin, ...

hrp0086p2-p580 | Perinatal Endocrinology P2 | ESPE2016

Newborns of Mothers Affected by Autoinmune Thyroid Disease

Solis Maria Magdalena Hawkins , de Alvare Ana Dolores Alcalde , Yebra Julia Yebra , Seoane Beatriz Perez , De la Serna Maria , Andres David Gomez

Background: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

hrp0086p2-p581 | Perinatal Endocrinology P2 | ESPE2016

Missense Mutation of GLIS3 Gene Resulting Inneonatal Diabetes and Congenital Hypothyroidism

Alghazir Nadia , Fathalla Omalmir Gedafi , Hadeed Ibtisam , Algouil Milad , Abusag Milad , Doggaha Milad , Alsahli Hamida , Abusrewil Suliman , Philipson Louis Philipson

Background: Neonatal diabetes, diabetes diagnosed before six months of age, is rare, with incidence of approximately 1:90 000–160 000 live births. In approximately half of cases, neonatal diabetes istransient and usually resolves between 6 and 18 months of life. In the remainder of cases, the diabetes is permanent. Mutations in the GLI-similar 3 (Glis3) gene encoding the transcription factor GLIS3 are a rare cause of permanent neonatal diabetes and conge...

hrp0086p2-p582 | Perinatal Endocrinology P2 | ESPE2016

Birth Chest Circumference Relations to Circulating Insulin-Like Growth Factor-I in the Not-life-threatened Newborn: Relevance of Birthweight to Birth Crown-Heel Length Ratio Beyond The Presence of a Small Birthweight for Gestational Age and of Respiratory Support Measures

Terzi Cesare , Blum Werner F. , Magnani Cristiana , Cerioli Andrea , Riani Marco , Chesi Elena , Bernasconi Sergio , Tridenti Gabriele , Luigi De Angelis Gian , Virdis Raffaele , Banchini Giacomo

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...

hrp0086p2-p583 | Perinatal Endocrinology P2 | ESPE2016

Neonatal Failure to Thrive and Dyselectrolytemia – Not Always a Congenital Adrenal Hyperplasia

Kasongo Laura , Nicolescu Ramona

Background: Pseudohypoaldosteronism (PHA) is a rare entity inducing, in case of late or missed diagnosis, life-threatening clinical and biochemical complications.Objective and hypotheses: To report a case of 4-week-old boy with failure to thrive, dehydration, hyponatremia, hyperkalemia, metabolic acidosis. The first diagnosis was congenital adrenal hyperplasia, but in the evolution, the right diagnosis of PHA was retained.Method: T...

hrp0086p2-p584 | Perinatal Endocrinology P2 | ESPE2016

A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis

Sri Nagesh V. , Hattersley Andrew , Ellard Sian , De Franco Elisa , Flanagan Sarah , Naseem Altaf , Ahmed A. , Ahmed Tanveer , Venkateswarlu K.

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...

hrp0086p2-p585 | Perinatal Endocrinology P2 | ESPE2016

Change Level of TRAb in Newborn Leads to Thyroid Dysfunction – Case Report

Sawicka Beata , Borysewicz- Sanczyk Hanna , Bossowski Artur

Maternal new-diagnosed Graves’ disease is quite rare thyroid dysfunction with an estimated incidence of 0.4–1% of all pregnancies, but only 1–5% of newborns delivered to mothers with Graves’ disease develop overt clinical signs and symptoms of hyperthyroidism. Neonatal hyperthyroidism almost always is transient and results from the transplacental passage of maternal thyrotropin (TSH) receptor stimulating antibodies. Neonates born to mothers with Graves&#146...

hrp0086p2-p586 | Perinatal Endocrinology P2 | ESPE2016

Hyperthyrotropinemia of the Preterm Newborn: Treat or Not to Treat?

Ossola Serena , Diana Manuela , Cardani Roberta , Agosti Massimo , Salvatoni Alessandro

Background: It is often difficult to establish whether hyperthyrotropinemia in preterm newborn is a simple physiologic energy sparing phenomenon or a true hypothyroidism requiring replacement treatment.Objective and hypotheses: This study aimed to find in what extent thyroid function in the preterm newborn can be influenced by clinical characteristics and complications.Method: We studied 35 preterm newborn, gestational age (GA) 32....

hrp0086p2-p587 | Perinatal Endocrinology P2 | ESPE2016

Permanent Neonatal Diabetes Mellitus Due to a G32S Heterozygous Mutation in the Insulin Gene

Xu Xiao-qin , Huang Ke , Hong Fang

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

hrp0086p2-p588 | Perinatal Endocrinology P2 | ESPE2016

Case Report on Hyperinsulinism/hyperammonaemia Syndrome: An Easily Treatable Cause of Postprandial Hypoglycaemia

Seneviratne Sumudu , Jayatunge Tharanga , Atapattu Navoda , De Silva K. S. H. , Wickramasinghe V. P. , De Silva Harendra

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

hrp0086p2-p589 | Perinatal Endocrinology P2 | ESPE2016

Severe Systemic Pseudohypoaldosteronism Type 1: 5 Years of Evolution

Miguel Gomes Maria , Baptista Vera , Martins Sofia , Marques Olinda , Antunes Ana

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...

hrp0086p2-p590 | Perinatal Endocrinology P2 | ESPE2016

Birth Chest Circumference Relations to Circulating Insulin-Like Growth Factor Binding Protein-3 in The Not-Life-Threatened Newborn: Relevance of Birthweight to Birth Crown-Heel Length Ratio After Control for A Small Birthweight for Gestational Age, for Respiratory Support Measures and for Circulating Insulin-Like Growth Factor-I

Terzi Cesare , Virdis Raffaele , Magnani Cristiana , Cerioli Andrea , Riani Marco , Garavelli Lidia , Bernasconi Sergio , Tridenti Gabriele , Luigi De Angelis Gian , Blum Werner F. , Banchini Giacomo

Background: Birth chest circumference (BC) may be related to Insulin-like Growth Factor (IGF)-Binding-Protein-3 blood serum levels (IB3) 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 IB3 after control for BW for birth gestational age (GA)<=10th centile (SGA), respiratory O2 supplementation (O2S), assisted ventila...

hrp0086p2-p591 | Perinatal Endocrinology P2 | ESPE2016

Renal form of Pseudohypoaldosteronism Type I in Sucking: Clinical Case

Meraai Galina , Solntsava Anzhalika

Pseudohypoaldosteronism is one of the least explored questions in clinical endocrinology. That leads to complexity in diagnosis and differential diagnostics of disease. A boy, aged 13 days was admitted to the hospital with complains: vomiting, low weight gain, constipation. Biochemical blood assay (BBA) and acid-base balance of blood: level of sodium – 127 mmol/l (N 132–145 mmol/l), potassium – 6.6 mmol/l (N 3.1–5.1 mmol/l), chlorine &#15...

hrp0086p2-p592 | Perinatal Endocrinology P2 | ESPE2016

Neonatal Hyperparathyroidism with Homozygous Missense Mutation in the CASR Gene

Alghazir Nadia , Gadaffi Omalmir , Hadeed Ibtisam , Abusrewil Suliman , Doggah Milad , Guail Milad

Background: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in the calcium-sensing receptor can cause familial hypocalciuric hypercalcaemia (FHH) or neonatal sever hyperparathyroidism (NSHPTT). NSHPT represents the most sever expression of FHH and courses as life threatening condition.Objective and hypotheses: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in...