ESPE Abstracts

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

Preterm and low birth weight(LBW) newborns are at risk of thyroid dysfunction during a critical period for neurodevelpment and this dysfunction can be missed in congenital hypothyroidism screening program(CHSP). Consequently, reassessment of thyroid function has been promoted in neonatal units, added to CHSP.Objectives: To evaluate prevalence and risk factors of thyroid dysfunction in≤32weeksGA and/or 1500g newborn, and compare differ...

Objective: The aim of this study was to analyse bone mineral status in children with epilepsy, on antiepileptic drugs (AEDs) regimen, using serum calcium, 25 (OH) vitamin D and Bone alkaline phosphatase (BALP) and compare these with age and sex matched controls.Patients and Methods: This was a case - control study, conducted at University of Port Harcourt Teaching Hospital, from September 1 2018 to May 31 2019, with 200 ...

The objective of this study has been the analysis of plasma chemistry in a group of children born SGA at the University Hospital of Álava- Txagorritxu and biochemical parameters related to the metabolic syndrome.Material and Methods: In a cohort of 27 subjects sub (13 boys and 14 girls) from the epiPEG-PreMeb study, a blood sample at 3, 12 and 24 months of life it was extracted. Biochemical parameters s and measured by automated and...

Achondroplasia (Ach) is a skeletal disorder caused by gain-of-function mutations of FGFR3. Ach patients suffer from various complications such as short stature, foramen magnum stenosis and sleep apnea. Disease-specific treatment is not available at present, although some drugs including a C-type natriuretic peptide analogue have been developed. The mutated FGFR3, G380R, has an elevated activity of the receptor-associated tyrosine kinase, but G380R is further activated...

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...

Epiphysis inhibits formation and secretion of the most pituitary hormones and at the first turn gonadotropins. Frequency of epiphysis tumors, pinealomas in children is 2.5% of all verified tumors of brain. 75% of epiphysis tumors are malignant. Endocrinological disturbances can be the first signs of pinealoma. In 10% cases there is precocious puberty syndrome. A 2.5 year-old boy presented to the endocrinology department with an 16-month history of accelerated physical developm...

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...