hrp0086p1-p199 | Diabetes P1 | ESPE2016

Anthropometry and Glucose Homeostasis in a Patient with Donohue Syndrome (Homozygous Insulin Receptor Mutation): Effect of Continuous s.c. rIGF-I Therapy

Plamper Michaela , Schreiner Felix , Gohlke Bettina , Wolfle Joachim

Background: Donohue syndrome (DS) is caused by autosomal-recessive loss of function mutations of the insulin receptor gene. DS is associated with diabetes mellitus unresponsive to conventional insulin therapy due to severe insulin resistance. Patients exhibit IUGR and postnatal failure to thrive. They develop a characteristic facies, hypertrichosis and acanthosis nigricans. Most patients die within the first two years of life because of respiratory infections. To date, no caus...

hrp0086p2-p850 | Syndromes: Mechanisms and Management P2 | ESPE2016

An Unusual Cause of Short Stature in a Phenotypic Male with Type I Diabetes Mellitus due to an Unexpected Deletion of the Y Chromosome

Giri Dinesh , Ghatak Atrayee , Landes Caren , Ramakrishnan Renuka

Background: Short stature homeobox (SHOX) gene, located on the pseudoautosomal region of the sex chromosome plays an important role in the development of skeleton and its mutations/deletions can cause skeletal dysplasias.Objective and hypotheses: We report a male, with Type I Diabetes (T1DM) with Y chromosome deletion and short stature due to the concurrent loss of SHOX.Method: A 15-year-old boy with T1DM for 6 years was referred f...

hrp0084p2-249 | Diabetes | ESPE2015

Level of Knowledge about Type I Diabetes Mellitus among Nurses Employed at Endocrinological Dispensaries

Tashmanova Akmaral

Objective and hypotheses: The work was initiated to assess basic level of knowledge on essential concepts of type I diabetes mellitus among nurses employed at regional dispensaries of Uzbekistan.Method: We tested 194 nurses employed at the endocrinologistÂ’s offices and regional endocrinological dispensaries to assess level of knowledge on essential concepts of type I diabetes mellitus by means of a 20-question test made up under a 5-day training pro...

hrp0097hdi2.2 | How Do I… Session 2 | ESPE2023

How Do I initiate, support, and follow-up people with T1DM on an automated insulin delivery system?

Nimri Revital

Automated insulin delivery (AID) systems are increasingly gaining popularity as a viable therapeutic option for managing type 1 diabetes. These systems hold the potential to significantly improve outcomes for individuals with T1D by reducing the risk of hypoglycemia and hyperglycemia, alleviating the burden of diabetes self-management along with improving overall quality of life. Implementation of the technology requires new knowledge for individuals with diabetes as well as h...

hrp0086fc8.3 | Growth: Clinical | ESPE2016

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Wasserman Halley , Backeljauw Philippe , Dauber Andrew

Background: PAPP-A2 (pregnancy-associated plasma protein A2) deficiency, caused by homozygous mutations in the PAPP-A2 gene results in a novel syndrome of significant growth failure. PAPP-A2 cleaves IGF binding proteins 3 and 5, thereby freeing IGF-I from its ternary complex and allowing it to become biologically active. We recently reported the first two families with PAPP-A2 mutations. Response to recombinant human IGF-I (rhIGF-1) in these patients is unknown.<p class="a...

hrp0094p2-13 | Adrenals and HPA Axis | ESPE2021

Utilisation Of The I-CAH Registry As A Tool For Facilitating Health Quality Improvement Strategies- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , McMillan Martin , O’Connell Michele , Davies Justin H. , Ahmed S. Faisal ,

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

hrp0092p1-365 | GH and IGFs (2) | ESPE2019

De Novo Formation of Neutralizing IGF-I Antibodies During rhIGF-1 Treatment in a Girl with IGFALS Deficiency as Distinct Adverse Event Interfering with Growth Promotion

Mittnacht Janna , Breil Thomas , Choukair Daniela , Duffert Christin , Hwa Vivian , Rosenfeld Ron , Bettendorf Markus

Background: IGFALS deficiency is a rare cause of GH insensitivity (GHI). We report a German girl with short stature who was born as 2nd child at 40 weeks of gestation. Her Caucasian parents were unrelated and healthy (target height 168 cm, SDS 0.2). She was born appropriately sized for gestational age (49 cm, SDS -1.2; 2950 g, SDS-1.2). Height (104.8 cm; SDS -2.94) and height velocity (5.1 cm / year; SDS -1.67) were reduced at the age of 6 years.</p...

hrp0082p2-d3-342 | Diabetes (2) | ESPE2014

Prolonged Treatment with Vitamin D Supplementation and High Dose is Necessary to Treat Vitamin D Deficiency/Insufficiency (VDD/I) in Children and Adolescents with Type 1 Diabetes

Xatzipsalti Maria , Dolianiti Maria , Papadopoulou Konstantina , Kouloufakou Penelope , Mitravela Vasiliki-Ioanna , Dracopoulou Maria , Stamogiannou Lela , Vazeou Andriani

Background: Increased frequency of VDD/I has been found in warmer countries over the last years.Objective and hypotheses: To evaluate the response to vitamin D treatment in VDD/I among children and adolescents with type 1 diabetes.Method: Total 25OHvitamin D levels (VDL) were measured in 76 consecutive children and adolescents with type 1 diabetes (36 males, mean age (S.D.) 13.6 (5.09) years, median disease duration ...

hrp0095p2-47 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Severe hypophosphatemia in a girl with vitamin D-dependent rickets type I: a case report

Menichetti Sofia , Ferrari Marta , Stagi Stefano

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...

hrp0092p2-86 | Diabetes and Insulin | ESPE2019

Factors Influencing the Formation and Support of the Motivation to Self-control of Adolescents with Type I Diabetes Mellitus

Kyrylova Olena

Background: Indicators of Type 1 diabetes mellitus in children and adolescents in Ukraine have increased in recent years. The effectiveness of treatment of this disease depends not only on the level of medical support of the patient, but also on the training of patients in the principles of managing their own illness. Low motivation of patients for treatment and control of illness, refusal to bear responsibility for their state of health and well-being can sig...