hrp0089p1-p175 | Growth & Syndromes P1 | ESPE2018

Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1 – Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency

Montalbano Antonino , Juergensen Lonny , Fukami Maki , Thiel Christian T , Hauer Nadine H , Fricke-Otto Susanne , Binder Gerhard , Naiki Y , Ogata Tsutomu , Hassel David , Rappold Gudrun A

Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. To elucidate the factors that modify disease severity/penetrance in short stature, we have studied a three-generation family with SHOX deficiency. We have found that the retinoic acid degrading enzyme CYP26C1 is a modifier for SHOX deficiency phenotypes towards the more severe clinical manifestations (Leri-Weill dyschondrosteosis) and confirme...

hrp0086fc5.5 | Management of Disorders of Insulin Secretion | ESPE2016

DPP-4 Inhibitor is an Alternative Effective Treatment in a Common Cause of Anti-GAD Negative “Type 1 Diabetes” - A Founder CISD2 Mutation

Abdulhag Ulla Najwa , Weinberg-Shukron Ariella , Abdelhadi Maha Atwan , Leibovitz Gil , Levy-Lahad Ephrat , Aurbach Adi , Lavi Eran , Abassi Muntaser , Wilchansky Michael , Libdeh Abdelsalam Abu , Zangen David

Background: Wolfram syndrome type 2 (WFS2) characterized by childhood GI ulcers/ bleeding, diabetes, and neurodegeneration with optic atrophy and hearing loss was recently elucidated as caused by CISD2/NAF-1 gene mutation. NAF-1 suppression in cells results in intra-mitochondrial accumulation of iron, increased ROS generation and consequently increased cellular apoptosis. So far only two mutations in four families were reported.Objective: Elucidate the c...

hrp0086fc14.4 | Growth : Mechanisms | ESPE2016

Preferential Paternal Transmission of the T Allele for the rs1802710 Polymorphism In Dlk1 Gene as a Pre- and Postnatal Growth Regulator

Prats-Puig Anna , Carreras-Badosa Gemma , Xargay-Torrent Silvia , Petry Clive J , Redondo-Bautista Lara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: DLK1 or PREF1 is an imprinted gene highly expressed from the paternal allele in embryonic tissues and placenta. It has been recently implicated in adipose tissue expansion and diabetes development. The human rs1802710 polymorphism (SNP) in DLK1 gene has been associated with early-onset extreme obesity but its role determining growth is unknown.Objective and hypotheses: To study the preferential paternal transmission...

hrp0086fc14.5 | Growth : Mechanisms | ESPE2016

Preferential Transmission of the Paternal C Allele of the rs9373409 Polymorphism in plagl1 Gene as a Regulator of Fetal Growth and Maternal Metabolism

Prats-Puig Anna , Carreras-Badosa Gemma , Diaz-Roldan Ferran , Petry Clive J , Maldonado-Moreno Clara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

hrp0086rfc5.3 | Management of Disorders of Insulin Secretion | ESPE2016

Sexual Lifestyle among Young Adults with Type 1 Diabetes

Pinhas-Hamiel Orit , Tisch Efrat , Levek Noa , Ben-David Rachel Frumkin , Graf-Barel Chana , Yaron Mariana , Boyko Valentina , Lerner-Geva Liat

Background: Sexual lifestyles including sexual activity, problems, satisfaction, and the formation of relationships, are greatly affected by physical health disorders. Fear from hypoglycemic episodes during sexual intercourse and intimacy issues can impact young adults with type 1 diabetes (T1DM).Objective and hypotheses: To assess sexual lifestyles of people with T1DM.Method: A total of 53 T1DM patients (51% males), mean±SD a...

hrp0086rfc8.1 | Growth: Clinical | ESPE2016

Somavaratan (VRS-317) Treatment of Children with Growth Hormone Deficiency (GHD): Results at 2 Years (NCT02068521)

Bright George , Moore Wayne V. , Nguyen Huong Jil , Kletter Gad B. , Miller Bradley S. , Fechner Patricia Y. , Ng David , Humphriss Eric , Cleland Jeffrey L.

Background: Somavaratan, a novel long-acting rhGH fusion protein with t1/2>100 h, previously demonstrated clinically meaningful improvements in height velocity (HV) and IGF-I in prepubertal GHD children (Moore JCEM 2016).Objective and hypotheses: To evaluate maintenance of somavaratan treatment effects in the 2nd treatment year.Method: After subcutaneous pediatric doses were evaluated in a single dose PK/PD study (<e...

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...

hrp0086p1-p604 | Growth P1 | ESPE2016

The Exon3-Deleted Growth Hormone Receptor Gene Polymorphism (d3-GHR) is Associated with Increased Spontaneous Growth and Impaired Insulin Sensitivity in Prepubertal Short SGA Children (NESGAS)

Wegmann Mathilde Gersel , Jensen Rikke Beck , Thankamony Ajay , Kirk Jeremy , Donaldson Malcolm , Ivarsson Sten-A , Soder Olle , Roche Edna , Hoey Hillary , Dunger David B , Juul Anders

Background: A common polymorphism in the growth hormone receptor gene (d3-GHR) was found to be associated with pre- and postnatal growth and GH-induced growth. D3-GHR was associated with glucose metabolism in adults with GHD and acromegaly, but this has not previously been explored in children.Objective and hypotheses: We examined the impact of the GHR-exon-3 deletion on glucose metabolism and anthropometrics in short SGA children before and following 1 ...

hrp0082fc7.1 | Growth promoting therapies | ESPE2014

Genetic Markers of Insulin Resistance are Associated with GH Response in Short SGA Children: the North European SGA Study

Jensen Rikke Beck , Thankamony Ajay , Day Felix , Kirk Jeremy , Donaldson Malcolm , Ivarsson Sten-A , Soder Olle , Roche Edna , Hoey Hilary , Juul Anders , Ong Ken , Dunger David

Background: There is wide heterogeneity in responses to GH treatment in children born small for gestational age (SGA).Objective and Hypotheses: The aim was to explore the impact of genetic markers on glucose metabolism and growth during first year high-dose GH treatment in SGA children.Method: In North European Small for Gestational Age Study (NESGAS) patients received high-dose GH (67 μg/kg per day) the first year. 97 patient...

hrp0082p1-d2-122 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Predictive Value of Excess Body Weight in Childhood and Adolescence Compared to BMI and Waist to Height Ratio

Petroff David , Kromeyer-Hauschild Katrin , Wiegand Susanna , L'Allemand-Jander Dagmar , Binder Gerhard , Schwab Karl Otfried , Stachow Rainer , Kiess Wieland , Hammer Elke , Sturm Sirid , Holl Reinhard , Bluher Susann

Background: Weight status in children is commonly defined using BMI (SDS), but this measure is problematic due to the skewness of the BMI distribution and its age-dependant increase. In addition, it is difficult for physicians or parents alike to grasp what a certain value means. Excess body weight (EBW) is frequently used in adult patients in the context of bariatric surgery.Objective and hypotheses: An appropriate definition for the paediatric populati...