ESPE Abstracts

Introduction: Hypothalamus is an important regulator of sleep onset, sleep maintenance and wakefulness as well as appetite control. Thus, hypothalamic damage can lead to both sleep dysregulation and severe morbid obesity. So, sleep apnea may be more prevalent and severe in obesity due to hypothalamic damage in comparison to exogenous obesity.Aim: We aim to compare frequency and severity of obstructive sleep apnea (OSA) in children with hypothalamic and e...

A small number of GH deficient patients can be recognized before age 3, and only few of them are diagnosed during work-up for hypoglycemia. Data comparing clinical and laboratory characteristics of hypoglycemic vs non-hypoglycemic population of children with early onset GH deficiency is scarce. The aim of this study is to assess long-term follow-up of growth hormone therapy in early onset GH deficiency, and compare pre-treatment and treatment related factors with respect to hi...

Background: CD59 is a complement regulatory protein which inhibits membrane attack complex protecting self-cells from complement-mediated damage. Recent evidence suggests CD59 may suppress T cell activation via a complement-independent mechanism. Other than an immune regulator, CD59 is shown to regulate glucose stimulated insulin secretion. Herein we report a patient with inherited CD59 deficiency who developed type 1 diabetes.Case: 11 year-old girl was ...

Background: Neurofibromatosis-Noonan Syndrome (NFNS) is a distinct entity which has variable features of both neurofibromatosis 1 (NF1) and Noonan syndrome (NS). In majority of cases NF1 mutations have been demonstrated. Short stature is one of the major causes for these patients requiring medical attention. GH deficiency (GHD) may accompany in some cases with NF1 or NS cases, however there are rare case reports on NFNS receiving GH therapy.Objective and...

Background: 17-β-hydroxysteroid dehydrogenase 3 (17-β-HSD3) deficiency is a rare disorder of sex development due to impaired conversion of androstenedione to testosterone. Children with 46,XY karyotype often have female appearing external or ambiguous genitalia at birth. At the time of puberty, virilisation can occur. Therefore 46,XY patients with HSD17B3 gene defects should be raised as male.Objective and hypotheses: When a child with 46,XY ka...

Background: Mitochondrial disease is an uncommon cause of diabetes mellitus and hypoparathyroidism in children. Coexistence of these two endocrinopathies in a child with mitochondrial disease is extremely rare.Case report: An 11-year-old girl was diagnosed with type 1 diabetes mellitus due to a blood glucose of 300 mg/dl. Simultaneous C-peptide and insulin were very low, however anti-GAD, anti-islet cell and anti-insulin antibodies were negative. HbA1c w...

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...

Background: Congenital hyperinsulinism (CHI) is a heterogenous disorder characterized by hyperinsulinaemic hypoglycaemia, and may present in the neonatal period in severe forms of the disease. Molecular defects involving eight genes has been described so far. Herein we report a case of severe, diazoxide unresponsive CHI caused by two homozygous novel missense mutations in the KCNJ11 gene.Case report: An 8-day old girl was referred for hyperinsul...

Background: Thyroid cancer before 20 years of age constitutes less than 2% of thyroid malignancies. Adult guidelines have been used in evaluation and follow-up of children until 2015. Features and long-term results of more children with PTC are needed to improve the ATA guideline for children. The aim of this study is to evaluate children with PTC in the last 15 years in a single reference-center, and assess the convenience of ATA 2015 guideline in practice.</...

Objective: Hereditary hypophosphatemic rickets is a rare renal phosphate wasting disorder causing burden on pediatric patients despite conventional treatment of phosphate and calcitriol. The aim of this study is to analyze genetic and clinical variability of children with X-linked hypophosphatemic rickets (XLHR), focusing on short term, long term and pubertal impact of conventional treatment. Design: Retrospective cohort studyMet...