ESPE Abstracts

Background: Most of autoimmune disease such as type 1 diabetes (T1DM), autoimmune thyroiditis (AIT) and coeliac disease (CD) often coexist in the same patient. Although there are a lot of number of studies on autoimmunity against the thyroid glands and small bowel in patients with type 1 diabetes, little is known about pancreatic β-cell immunity in patients with AIT and CD.Objective and hypotheses: We studied autoimmune markers in children patients ...

Background: Involvement of multiple spesific endocrine organs in systemic lupus erythematosus (SLE), as initial manifestations, are quite rare. These manifestations can appear singly or combined. But they have been usually reported singly. We report a child case who coexists many of rare clinical features of SLE at the same time at onset.Objective and hypotheses: Polyglanduler autoimmune syndrome may be a part of SLE. Coexistence of many polyglanduler au...

Background: Turner syndrome has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma. Our case is a mosaic Turner syndrome patient with gonadoblastoma.Case Summary: A 14-year-old girl was admitted to the ...

Background: Boys with delayed puberty represent one of the main cause for pediatric endocrine referrals. Although the majority of them have constitutional delay of growth and puberty (CDGP), it is important to identify isolated hypogonadotropic hypogonadism (IHH) for optimal management.Objective and hypotheses: The aim of the study was to evaluate the usefulness of inhibin B and AMH as biological markers for distinguishing between CDGP and IHH.<p cla...

Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial shor...

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...

Background: GH deficiency (GHD), can either be isolated (IGHD) or part of multiple pituitary hormone deficiency (MPHD), is a pituitary hormone disorder that manifests with short stature.Objective and hypotheses: To evaluate the presenting characteristics, auxological and etiologic factors of GHD in a large cohort from a single tertiary paediatric endocrine centre.Methods: Hospital files of patients followed with GHD deficiency at D...

Introduction & Aim: Adrenoleukodystrophy (ALD) stems from ABCD1 gene mutations, affecting very long-chain fatty acid (VLCFA) metabolism, leading to VLCFA accumulation in tissues. The variable clinical spectrum of ALD underscores the need for early detection to optimize management with pre-emptive treatments. Hematopoietic stem cell transplantation (HSCT) offers curative potential, while symptom management aims to slow progression. We present cases...

Aim: 12,13-dihydroxy-9Z-octadecenoic acid (12,13-diHOME) is a lipokine secreted from brown adipose tissue, and it is shown to have positive effects on dyslipidemia. Acute exercise have been shown to lead to an increase in its secretion. It was aimed to investigate the relation of 12,13-diHOME with obesity, exercise and dyslipidemia for the first time in the adolescent age group.Methods: This is a prospective study includ...

Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiologic...