hrp0082p1-d3-47 | Bone (1) | ESPE2014

Relation Between CNP Signaling Pathway and the Effect of Combined Treatment with GnRHa and rhGH on the Linear Growth in Mid/Late Pubertal Girls at Great Bone Ages with CPP or EFP

M A Hua-mei , S U Zhe , L I Yin-ya

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GHÂ’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

hrp0089p3-p035 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Our Treatment Experience with Nocturnal Continuous Enteral Calcium Infusion in a Case with Vitamin D Resistance Rickets Type II

Filibeli Berna Eroğlu , Kırbıyık Ozgur , Dundar Bumin Nuri

Introduction: Vitamin D resistant rickets type II (VDDR-II) is a disease with a difficult treatment developed as a result of mutations in VDR gene. Despite high dose active vitamin D and oral calcium treatments, sufficient recovery cannot be achieved mostly. Successful results with intravenous calcium infusion that is an alternative treatment have been reported; however, serious restrictions and complications such as hospitalization, catheter infection, thrombosis, skin necros...

hrp0097p1-286 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Aetiology and Outcome of Hypoglycaemia in Young Children

Yean Chai Xin , Guftar Shaikh M. , D. McNeilly Jane

Background: Hypoglycaemia is one of the most common presenting complaints at paediatric emergency department. There are many distinct causes of hypoglycaemia, ranging from nutritional insufficiency, infectious origins, to metabolic disorders. A thorough investigation can help differentiate the cause of hypoglycaemia, with subsequent tailored management. All patients with hypoglycaemia should have a full clinical assessment and together with a hypoglycaemia scr...

hrp0084p3-587 | Adrenals | ESPE2015

Adrenal Atrophy Secondary to Inappropriate Oral Administration of Exogenous Steroid Presenting with Hypercalcaemia

Guven Ayla , Kilinc Suna , Helvacioglu Didem , Kuru L ihsan

Background: Glucocorticoids are one of the most widely used drugs in clinical practice. Inappropriate use can result in secondary adrenal insufficiency. Adrenal insufficiency can be an occult cause of hypercalcaemia.Case presentation: A 3-months-old boy admitted for puffiness of the face, increase in weight. It was revealed that the patient was admitted to a hospital 2 months ago and was diagnosed to have congenital cataract and operated. The patient was...

hrp0086fc15.4 | Late Breaking | ESPE2016

Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions with Adrenodoxin

Legeza Balazs , Ma Nina , Zalewski Adam , Renthal Nora , Fluck Christa , Pandey Amit

Background: CYP27B1 converts 25-hydroxyvitamin D3 to active 1,25-dihydroxyvitamin D3, playing a vital role in calcium homeostasis and bone growth. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1.Objective and hypotheses: Enzymatic and structural analysis of mutations in a patient with calcipenic rickets.Method: Two siblings presented with calcip...

hrp0082fc3.5 | Diabetes | ESPE2014

Pancreatic N-Methyl-D-Aspartate Receptors as Novel Drug Targets for The Treatment of Diabetes Mellitus

Welters Alena , Marquard Jan , Otter Silke , Stirban Alin , Eglinger Jan , Herebian Diran , Stozer Andraz , Wnendt Stephan , Piemonti Lorenzo , Kohler Martin , Schliess Freimut , Rupnik Marjan Slak , Heise Tim , Berggren Per-Olof , Klocker Nikolaj , Mayatepek Ertan , Eberhard Daniel , Kragl Martin , Lammert Eckhard , Meissner Thomas

Background: N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors that are widely expressed in the CNS where they play an important role in neurotransmission and cell viability and serve as drug targets for the treatment of neurodegenerative disorders.Objective and hypotheses: Much less is known about the role of pancreatic NMDARs. Since neurons and pancreatic islets have many features in common, we hypothesiz...

hrp0086p1-p812 | Syndromes: Mechanisms and Management P1 | ESPE2016

Skeletal Disproportion in Girls with Turner Syndrome

McVey L , Fletcher A , Murtaza M , Donaldson MD , Wong SC , Mason A

Background: Turner Syndrome (TS) is associated with short stature and skeletal disproportion. The impact of treatment with recombinant human growth hormone (rhGH) and oestrogen therapy on body proportions is unclear.Objectives: To evaluate sitting height (SH) and leg length (LL) in TS before growth promoting therapies and at adult height.Method: Retrospective study of height (Ht), SH and LL standard deviation score (SDS) in TS. Bod...

hrp0094p2-90 | Bone, growth plate and mineral metabolism | ESPE2021

Changing reality: rebirth of old diseases in new circumstances. Severe vitamin D deficiency presenting as hypocalcemic seizures in a healthy adolescent after prolonged COVID-19 lock-down.

Naugolny Larissa , Rachmiel Marianna , Weintrob Naomi ,

Context: Nutritional vitamin D deficiency is rare in the high income countries; its manifestations are usually associated with the combination of accompanying risk factors, as malnutrition, chronic illness, dark skin or restricted exposure to sunlight due to cultural practices.Objective: The aim of this case report is to increase the awareness to severe vitamin D deficiency as a result of extreme indoor isolation due to ...

hrp0089p1-p253 | Thyroid P1 | ESPE2018

Long Term Comparison between Liquid and Tablet Formulations of L-Thyroxine (L-T4) in the Treatment of Congenital Hypothyroidism (CH)

Vigone Maria Cristina , Ortolano Rita , Vincenzi Gaia , Pozzi Clara , Ratti Micol , Assirelli Valentina , Vissani Sofia , Cavarzere Paolo , Mussa Alessandro , Gastaldi Roberto , Mase Raffaella Di , Street Maria Elisabeth , Trombatore Jessica , Weber Giovanna , Cassio Alessandra

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

hrp0092p2-131 | Fat, Metabolism and Obesity | ESPE2019

Serum 25-hydroxyvitamin D Levels and Insulin Sensitivity Across Pubertal Stages in Obese Children

Wankanit Somboon , Poomthavorn Preamrudee , Mahachoklertwattana Pat

Background: Decreased serum 25-hydroxyvitamin D (25-OHD) level has frequently been reported in obesity, a condition which is associated with insulin resistance. Insulin resistance was negatively associated with serum 25-OHD. Puberty is the period with altered insulin sensitivity. Previous studies showed conflicting results of the variation of serum 25-OHD levels across pubertal stages. However, data on serum 25-OHD levels across pubertal stages in obese childr...