ESPE Abstracts

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...

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 endocrinologist’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...

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...

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...

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...

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

Donohue Syndrome is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor gene. It presents severe insulin resistance, fasting hypoglycemia, post-prandial hyperglycemia, intrauterine and postnatal growth retardation, dysmorphic features, hypertrichosis. The diagnosis of Donohue syndrome was based on the clinical characteristics, laboratory evaluation and determination of the INSR mutation. We report a Turkish female patient with genetically ...

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...

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 ...

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...