ESPE Abstracts

Background: The hypothyroidism is defined by an elevated TSH with normal fT4 and the absence of symptoms of hormonal deficiency. In children and adolescents, it is mainly due to chronic thyroiditis or radiotherapy for cervical cancer.Objective and hypotheses: Assess clinical, etiological and evolutionary characteristics of subclinical hypothyroidism in children and adolescents.Method: This is a retrospective and prospect...

Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a firs...

Introduction: Since its introduction in the 1970s, insulin pump therapy became more and more recommended in patients with type 1 diabetes, in order to achieve and maintain an optimal glycemic control, by mimicking the physiological release of insulin through continuous infusion. The aim of our study was to determine the effectiveness of insulin pump therapy in improving the metabolic control in children with type 1 diabetes.Patients and ...

Introduction: Growth hormone (GH) therapy has revolutionized the management of patients with short stature. Its common use was first limited to GH deficient children, but now it has been widnened to various other clinical conditions.The aim of our study is to compare the response to GH therapy in patients with GH deficiency (GHD), with those with Turner syndrome and patients small-for-gestational age (SGA).Materials and Methods: We condu...

Introduction: Management of CAH presents unique challenges distinct from other forms of adrenal insufficiency. Higher doses of glucocorticoids are required to suppress adrenal androgen synthesis, which can lead to overtreatment. Steroid-associated adverse events (SAAE) include hypertension, hyperglycemia, and diabetes, overweight and obesity and short stature.Aim: The goal of this study was to assess the occurrence of st...

Introduction: Debate still exists about the safety of long-term use of prednisone (P) versus hydrocortisone (HC) for treating children with congenital adrenal hyperplasia -21OH D (CAH).Aim: To investigate the linear growth and weigh gain as well as metabolic component in children with CAH who were treated with either HC or P since early infancy for 5 years or more.Methods: Data of ...

we compared gender effect on growth and metabolic control with CAH. Morbidities associated with CAH, including risks of obesity, hypertension, dysglycemia, and dyslipidemia were investigated.Methods: Data from 30 children with CAH were analyzed retrospectively. They received hydrocortisone (n= 11) or prednisolone (n= 19) and fludrocortisone (0.1: 0.15 mg OD) since early infancy. The mean hydrocortisone dose = 22.5 +/- 7...

Background: Neonatal Diabetes Mellitus (NDM) is a rare form of monogenic diabetes that typically presents during the first 6 months of life. Its prevalence is about 1:100 000 live births; however it may rise up to 1:29 000 in highly consanguineous populations. Mutations in 22 different genes are reported; with the most common cause being potassium channel subunit gene (KCNJ11/ABCC8) mutations. However, causative mutations among consanguineous populations seem to diffe...

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...

Introduction: Rapid-onset Obesity with Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) recently named ROHHAD-NeuroEndocrine Tumors (ROHHAD-NET) syndrome is a rare cause of obesity in children. The diagnosis is challenging and can easily be confused with other causes of obesity.Case Report: We report a case of a six-year-old boy, referred to our clinic for hypernatremia. Six months ago, he s...