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 (1)

hrp0082p3-d2-887 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Permanent Neonatal Diabetes Mellitus in China

Huang Ke , Liang Li , Fu Junfen , Dong Guanpin

Introduction: Permanent neonatal diabetes mellitus (PNDM) is a rare disease which is defined as the onset of diabetes before the age of 6 months with persistence through life. Patients with KCNJ11 or ABCC8 gene mutations have the opportunity to switch to oral sulfonylurea therapy. There were limited studies about the genetic analysis and long-term follow-up of PNDM.Case report: We report four cases of this kind of PNDM, including their genetic mutations,...

hrp0082p3-d2-888 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Neonatal Neurogenic Diabetes Insipidus: a Case Report

Alves Ines , Clemente Fatima , Castro-Correia Cintia , Pinto Helena , Guimaraes Hercilia , Fontoura Manuel

Background: Neurogenic diabetes insipidus (NDI) is extremely rare in the neonatal period. In most cases, it’s secondary to CNS injury. The clinical presentation in this group (particularly in preterm) is unspecific and a high degree of suspicion for the diagnosis is necessary.Objective and hypotheses: Diagnose NDI in a neonate with sodium and diuresis instability.Method: We present a case report.Results:...

hrp0082p3-d2-889 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Evolution and Epidemiological Assessment of the Influence of Sociological Variables of Children Born SGA in the Last Decade in Basque Country

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

Background: Although the theoretical impact of small in weight and/or size at birth (<2 SDS for EG) is 3–5% (3.5% in the Basque Country (source: Local Government) the socio-economic situation in our country has conditioned a change in its l although 50% at 2 years did not do a proper catch up (by excess or defect) with potential impact on future size and metabolic complications, cardiovascular require specific monitoring.Objective: To assess soc...

hrp0082p3-d2-890 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

A Novel Mutation Causing Pseudohypoaldosteronsim

Heffernan Emmeline , Abid Noina , McKee Shane

Background: We present a case of a neonate with life threatening hyponatraemia and hyperkalaemia, due pseudohypoaldosteronism, found to be caused by a novel mutation.Objective and hypotheses: An 8-day-old girl presented with a short history of poor feeding and vomiting. She was born at term, to consanguineous parents. She was severely shocked and required fluid resuscitation. She had profound hyponatraemia and hyperkalaemia. She was admitted to PICU with...

hrp0082p3-d2-891 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

A Novel Mutation in the NR3C2 Gene Causing Pseudohypoaldosteronism Type 1

Sertedaki Amalia , Kanaka-Gantenbein Christina , Chrousos George P

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...

hrp0082p3-d2-892 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Subcutaneous Fat Necrosis Causing Prolonged Hypercalcaemia in a Neonate: an Unusual Case

Niranjan Usha , Desai Vivek , Brooke Nigel , Natarajan Anuja

Introduction: Subcutaneous fat necrosis (SCFN) is an uncommon inflammatory disorder of the adipose tissue. Though hypercalcaemia secondary to SCFN is a well-recognised entity, reported cases with persistence of symptoms requiring prolonged treatment as in our case are rare. There are also limited reports about the severity and duration of hypercalcaemia secondary to SCFN with possible correlation of the severity to the extensity of the skin lesions. We present a neonate who de...

hrp0082p3-d2-893 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Severe Vitamin D Deficiency Among Pregnant Women and Their Newborns in Turkey

Parlak Mesut , Kalay Zuhal , Kirecci Ahmed , Guney Ozgur , Koklu Esad , Kalay Salih

Objectives: Vitamin D deficiency is an important health problem in pregnant women and their infants in sunny countries. The present study evaluated serum 25-hydroxyvitamin D3 (25(OH)D3) concentrations in pregnant women and in their newborns and determined the risk factors in LSES cities in Turkey.Methods: Ninety-seven pregnant women and their newborns were included in the study between December 2012 and February 2013. All of the pregnant women had irregu...

hrp0082p3-d2-894 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Relationship of Birth Gestational Age with IGF Binding Protein 3 Beyond Influences of Gender, Small-For-Gestational-Age Status, Caesarean Section, Caloric Intake, Parenteral Nutirtion, and Predominant Breast Milk Feeding in the Not-Life Threatened Newborn: Relevance of Not-Brain-Related Birth Body Weight

Terzi Cesare , Blum Werner F , Zani Sergio , Riani Marco , Tridenti Gabriele , Cerioli Andrea , Garavelli Lidia , Bernasconi Sergio , Virdis Raffaele , Banchini Giacomo

Background/objective and hypotheses: Not-brain-related birth body weight (NBBW) relevance to known relationships of birth gestational age (GA) with blood serum IGF binding protein 3 (IB3) was studied in the not-life threatened newborn (NWB).Method: SEX, GA (unit:complete week), postnatal age (PNA; unit:day), birth body weight (BW; unit:g), birth head circumference (HC; unit:cm), BW<10th centile for GA (SGA), caesarean section (CS), predominant oral/e...

hrp0082p3-d2-895 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Relationship of Birth Gestational Age with the Ratio between IGF2 and IGF Binding Protein 3 in Blood Serum Beyond Influences of Gender, Small-For-Gestational-Age Status, Caesarean Section, Caloric Intake, and Predominant Breast Milk Feeding in the Not-Life-Threatened Newborn: Relevance of Parenteral Nutrition

Terzi Cesare , Virdis Raffaele , Blum Werner F , Zani Sergio , Riani Marco , Tridenti Gabriele , Cerioli Andrea , Chesi Elena , Bernasconi Sergio , Banchini Giacomo

Background/objective and hypotheses: Parenteral nutrition (KIVD) relevance to known birth gestational age (GA) relations to the blood serum IG2/blood serum IGF binding protein 3 (IB3) ratio (IG2 through chronologically corresponding IB3, IG2/IB3) was studied in the not-life-threatened newborn (NWB).Method: SEX, GA (unit, complete week), postnatal age (PNA; unit, day), birth body weight (BW; unit, g), birth head circumference (HC; unit, cm), GA≤36 (...

hrp0082p3-d2-896 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Cord Blood Vitamin D Concentrations in Native and Immigrant Population from a Mediterranean Area in Spain

Guagnelli Miguel Angel , Yeste Diego , Ferrer Roser , Comas Inmaculada , Carrascosa Antonio

Background: Recent studies have found a widespread deficiency of vitamin D during pregnancy. Its significance is still not fully understood, although low Vit-D levels have been associated to increased risk for conditions such as preeclampsia, bacterial vaginosis, neonatal sepsis, and early respiratory infections in the child. Supplementation to the pregnant mother is still a matter of debate, therefore it is important to understand better the causes, risk factors, and possible...

hrp0082p3-d2-897 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Transient Neonatal Diabetes Mellitus: New Case

Hancili Suna , Guven Ayla , Akin Ilke Mungan , Cebeci Ayse Nurcan , Edwards Sian

Introduction: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of age. It is a rare condition occurring in only one in 100 000–300 000 live births. Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM). TNDM is most frequently caused by abnormalities in the imprinted region of chromosome 6q24.Case Report: A 18-day-old male was referred from another clinic due to diabetic ketoaci...

hrp0082p3-d2-898 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Marfan Neonatal Syndrome: a Case Report

Hawkins Magdalena , Alcalde Ana , Yebra Julia , Royo Maria , Perez-Seoane Beatriz , de la Serna Maria , Raga Teresa , Barrios Ana , Garcia-Minaur Sixto

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

hrp0082p3-d2-899 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Iodine Status in the Neonate and the Effect on Thyroid Function

Yu Jeesuk , Lee Seung Ho , Chang Young Pyo

Background: Sufficient iodine intake is required for the synthesis of thyroid hormone. Thyroid hormone is very important for normal growth and development, especially in newborn period. It is also well known that excess iodine intake may cause adverse effect in thyroid function.Objectives and hypotheses: This study was designed to find the iodine status of the newborn with normal thyroid function confirmed by newborn screening of thyroid function test (T...