ESPE Abstracts

Introduction: X-linked ichthyosis is an inherited disorder of keratinization due to steroid sulfatase deficiency. It may be part of a contiguous gene syndrome characterized by the presence of several clinical features including hypogonadism, Leri-Weill syndrome, short stature, chondrodysplasia punctata, mental retardation, epilepsy, Dandy-Walker malformation and ocular albinism. It is due to microdeletions of Xp22.3. We report observations of two siblings with syndromic x-link...

Background: Prevelance of type 1 Diabetes Mellitus is increasing world wide and it is associated with multiple factors.Objective and hypotheses: We aimed to evaluate the clinical and laboratory characteristics of patients with type 1 DM.Method: Clinical records of 184 patients with diabetes (0–18 years) admitted between January 2010 and January 2014 were analysed retrospectively. Age and season at admission, type of admission,...

Annotation: Pandemics of coronoviral infection continues affecting the wold community, and with the comprehension of its pathological physiology an interest in endocrine effects ofSARS-CoV-2 grows too. It was determined, that the main target organs affected by SARS-CoV-2 were lungs and immune system, while it is still not clear if SARS-CoV-2 has any impact on the thyroid function. In patients infected with SARS-CoV, coronovirus relevant to SARS-CoV-2, damage o...

Background: Devices for continuous subcutaneous insulin infusion have become fundamentally new and progressive step in the treatment of diabetes.Aims and objectives: To evaluate the effectiveness of insulin pump therapy in comparison with the regime of multiple daily injections (MDI) of insulin.Materials and Methods: Forty children and adolescents with type 1 diabetes from 5 to 17 ...

Bardet-Biedl syndrome (BBS) is a multiorgan genetic disease which is a part of ciliopathies. The HAS (Haute Autorité de santé) published in March 2019 a new National Diagnostic and Care Protocol for Bardet Biedl syndrome. However, in practice, we face the difficulties of screening and multidisciplinary care of different complications.We report our experience with siblings composed of an eight-year-old boy and an 18-month-old girl suffering from...

Objective and hypotheses: The work was initiated to assess efficacy of training and achievement of therapy targets in children and adolescents with type 1 diabetes mellitus in “Diabetes Schools”.Method: The five-day training course was conducted in “Type 1 Diabetes School” at the Center for the Scientific and Clinical Study of Endocrinology, Uzbekistan Public Health Ministry (Tashkent). The training was conducted by means of a structu...

Objectives: childhood growth influences their social and psychological behavior, and abnormal growth may reflect underlying pathological etiologies. We aim to study etiologies and carachteristics of short stature in children in endocrinology department.Methods: 160 children ranging from 2 years to 21 years with short stature were retrospectively studied.Results: In this study, a di...

Background: Idiopathic hypogonadotropic hypogonadism (HH) is highly genetically heterogeneous. To date, about 50 causative genes have been identified, estimated to account for up to 50% of hereditary cases. With next generation sequencing (NGS) technology now in wide clinical use, it is increasingly possible to determine the underlying genetic etiology of isolated and combined pituitary hormone deficiencies.Objective: We...

We analyzed the clinical data and the growth parameters of 50 newborns and young infants (age: 1.6 ± 0.9 months) admitted to our hospital (Al Wakhra Hospital, Department of Pediatrics, Doha, Qatar), between 1-1-2016 to 1-1-2017, with acute meningitis. Anthropometric measurements included weight, length, and head circumference. Length SDS (L-SDS) and body-mass-index (BMI) were calculated and recorded at every clinic visit, every 3 months for 8 ± 2 months.<p class=...

Background: Debate still exists about the safety of long-term use of prednisone (PD) versus hydrocortisone (HC) for treating children with CAH. Relatively slight supraphysiologic levels may be enough to blunt growth velocity, increase weight gain.Objectives of the study: We evaluated the anthropometric and biochemical effects of long-term PD versus HC treatment in children with CAH-21OHD.<p class="ab...