hrp0086rfc4.3 | Pathophysiology of Obesity | ESPE2016

Early Growth Patterns are Associated with Alterations in Adipocytokine Levels and Fat Distribution Measured by DXA in 982 Children/Adolescents

Tinggaard Jeanette , Thankamony Ajay , Jensen Rikke B , Main Katharina M , Juul Anders

Background: Early growth trajectories are associated with childhood BMI and fat distribution as well as adulthood type 2 diabetes. Mechanisms by which early growth determines later adiposity remain unclear, but the effect may be mediated through adipocytokines.Objective and hypotheses: We describe the association between infant growth, adolescent fat distribution and serum adipocytokines. We hypothesize that poor or rapid early growth is associated with ...

hrp0086rfc7.8 | Gonads & DSD | ESPE2016

Premature Adrenarche in Girls at Pubertal Onset is Associated with High Androgens, but Lower AMH Concentrations

Merino Paulina M , Pereira Ana , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...

hrp0086rfc8.5 | Growth: Clinical | ESPE2016

Optimal Sampling of IGF-1 During Weekly Administration of a Long Acting Human Growth Hormone (MOD 4023)

Fisher Dennis M. , Mendelson Michal Jaron , Vander Shelly , Koren Ronit , Hart Gili

Background: OPKO Biologics is developing MOD-4023, a long-acting growth hormone (GH), intended for weekly dosing for the treatment of idiopathic GH deficiency in children. At ESPE2015, we presented pharmacokinetic (PK) and pharmacodynamic (PD, based on IGF-1) models for weekly MOD-4023 administration in children aged 3–11 years. These models confirm that IGF-1 (and IGF-1 SDS) varies during the dosing interval. One critical clinical and research issue is when to optimally ...

hrp0086rfc11.1 | Thyroid | ESPE2016

Central Hypothyroidism and Biallelic Defect Near the D/ERY Motif of the TRHR Gene

Garcia Marta , de Buitrago Jesus Gonzalez , Pardo Leonardo , Hinkle Patricia M. , Moreno Jose C.

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

hrp0086p1-p145 | Bone & Mineral Metabolism P1 | ESPE2016

To Study the Efficacy and Safety of Growth Hormone (GH) Therapy in Children with Pycnodysostosis

Mohamed Zainab , Sachdev Pooja , Zamir Imran , Benson Joanna , Denvir Louise , Mughal M Zulf , Randell Tabitha

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...

hrp0086p1-p214 | Diabetes P1 | ESPE2016

Analysis of Short-Term Efficacy of MiniMed 640G with SmartGuard in Pediatric Patients with Type 1 Diabetes

Villafuerte Beatriz , Martin-Frias Maria , Yelmo Rosa , Roldan Belen , Angeles Alvarez M. , Barrio Raquel

Background: Fear of hypoglycemia is a major constraint on achieving a good metabolic control in T1D. Sensor augmented insulin pump therapy with threshold-suspended features (MiniMed 640G-SG) might alleviate burden of hypoglucemia and improve outcomes.Objective and hypotheses: Evaluate the effectiveness of this system to prevent day and night hypoglycemia and its impact on HbA1c in a pediatric population with T1D.Method: Descriptive...

hrp0086p1-p239 | Diabetes P1 | ESPE2016

Fetal Growth Restriction Due to Maternal Congenital Hyperinsulinism Associated with a Novel Variant in GLUD1 and Intrauterine Diazoxide Exposure

Dirlewanger Mirjam , Klee Philippe , Ranza Emmanuelle , Gastaldi Giacomo , Boulvain Michel , Schwitzgebel Valerie M

Background: Congenital hyperinsulinism (CHI) is a rare disease mostly due to loss-of-function mutations of the ABCC8 or KCNJ11 genes, encoding the two subunits of the KATP channel. Gain-of-function mutations in glutamate dehydrogenase 1, encoded by the GLUD1 gene, are the second most common cause of CHI.Objective and hypotheses: The majority of patients with a GLUD1 CHI respond to diazoxide, but little is kn...

hrp0086p2-p268 | Diabetes P2 | ESPE2016

A Patient with a Rare Monogenic Diabetes Syndrome

Veetil Vimal Mavila , Pachat Divya , Krishnanunni Sudha , Naseerali M C , Majeed P Abdul

Aim: To delineate the diagnosis in a case of antibody negative infantile onset diabetes with deranged liver function.Case Report: A female child, first born of consanguineous couple presented with Diabeteic Keto Acidosis and acute liver failure at 9 months of age. She has been treated as a case of Type I diabetes and was discharged on insulin. Child was further evaluated at our center at 11 months of age. On examination, she had a normal anthropometry an...

hrp0086p1-p381 | Gonads & DSD P1 | ESPE2016

Psychological Outcomes and Quality of Life of Patients with Non-CAH DSD

Selveindran Nalini M , Jalaludin Muhammad Yazid , Zakaria Syed Zulkifli Syed , Rasat Rahmah

Background: Evidence based treatment of patients with Disorders of sex development (DSD) is challenged by a dearth of outcome studies.Objective and hypotheses: To study the quality of life and the psychological outcomes of children with DSD other than congenital adrenal hyperplasia (CAH) and to identify relevant risk factors.Method: Patients with DSD other than CAH aged between 6 and 18 years. Control subjects were matched for age ...

hrp0086p2-p413 | Gonads & DSD P2 | ESPE2016

Two Patients Presenting the Extremes of the Phenotypic Spectrum of 5 alfa Reductase Deficiency: One with at New Mutation

Jensen Karen S , Hvistendahl Gitte M , Kristensen Kurt , Olsen Henning , Vogel Ida , Birkebaek Niels H

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...