ESPE Abstracts

Background: It has been reported that 25–75% of patients with diagnosis of growth hormone deficiency (GHD) may show normal growth hormone (GH) responses in repeated stimulation tests after completion of treatment. Retests are typically conducted following completion of growth phase. In a small number of studies retests are conducted during early stages of GH therapy. Accuracy of early retesting to exclude GHD can be evaluated by adult heights of those wh...

Background and Aim: Priming with sex steroids before growth hormone (GH) stimulation tests is considered to increase the specificity of the GH stimulation tests, however, its use in the diagnosis of growth hormone deficiency (GHD) is still controversial. Purpose of this study is to analyze efficacy of sex steroid priming in the diagnosis of GHD.Methods: The study comprised 115 peripubertal boys who were diagnosed with is...

Introduction: Organic lesion underlying central precocious puberty (CPP) is common in boys, and rare in girls. We aimed to compare the etiological distribution of organic causes according to gender, and define the clinical-laboratory characteristics that predict an organic cause to CPP.Subject and methods: Medical records of 260 girls and 120 boys with CPP were reviewed retrospectively to analyze the clinical, laboratory characteristics, radiological fin...

Background: Reevaluation of children diagnosed as GH deficiency (GHD) showed 25–75% of cases had normal GH responses in retests after cessation of therapy. Low reproducibility and high intra-individual variability of the tests are the important problems in diagnosis. Repeat evaluation during treatment may help detect cases with normal GH status earlier.Objective and hypotheses: We repeated stimulation tests following the first year of GH treatment t...

Introduction: Formulations and doses of GnRH analogues used to treat idiopathic central precocious puberty (iCPP) may vary with clinician preference or local approvals. Aim of this study is to define factors that affect initial depot leuprolide acetate (LA) dose which suppress hypothalamo-pituitary-gonad (HPG) axis in girls with iCPP.Methods: A total of 220 girls receiving LA for iCPP were included. LA is started in the dose of 3.75 mg/28 days, and suppr...

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: 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: 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...