ESPE Abstracts

Background: Among their metabolic effects, GH and its mediator IGF1 have been reported to influence hematopoiesis. Indeed, GH/IGF1 axis promotes erythropoiesis and GH deficiency (GHD) has been associated with a normochromic and normocytic anemia both in adults and in children. In contrast, in vivo data on the effects of GH/IGF1 axis on leukocytes and platelets are scanty.Objective and hypotheses: To evaluate the effects of 4-years GH replacement...

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by ACTH-resistant isolated cortisol deficiency. FGD usually presents with hypoglycemia, convulsions, prolonged jaundice, and marked skin hyperpigmentation in the early period of life. Several defects in MC2R, MRAP, MCM4, NNT, and TXNRD2 genes are related to FGD. In all these situations, plasma ACTH is high. By contrast, all reported cases of glucocorticoi...

Objectives: Among adverse effects of GH, a particular attention should be given to glucose homeostasis. The aim of the study was evaluate the effect of GH therapy on glucose homeostasis in children with GHD after 10 years of treatment.Methods: 30 patients (8 M/22 F, age 7.00 ± 2.61 years) with GHD at diagnosis and 30 healthy children comparable to patients for age, sex and BMI were enrolled. Glucose, insulin, HOMA-IR ...

Introduction: Craniopharyngiomas (CP) are rare pediatric intracranial tumors (1.2-4%) with a peak of incidence between 5-14 years . We retrospectively reviewed data of 16 cases (M/F 4/12) diagnosed before 4 years of age (median follow up 7.2 years) from a cohort of 117 patients (pts) (M/F 56/41) diagnosed after 01/01/2000, followed-up in 14 Italian centres of pediatric endocrinology belonging to the Italian Society for Pediatric Endocrinology and Diabetolo...

Introduction: Peripubertal children with delayed puberty frequently display a poor growth rate prompting endocrine work-up. Whether priming with sex steroids should routinely be performed in these patients to improve specificity of growth hormone stimulation tests (GHST) is unclear. Treatment with sex steroids in constitutional delay of growth and puberty (CDGP) is also debated.Patients and Methods: This multicenter retr...

Introduction: The diagnosis of growth hormone deficiency (GHD) is currently based on clinical, auxological, biochemical, and neuro-radiological investigation. Provocative tests of GH secretion using physiological/pharmacological stimuli are required to confirm GHD. The clonidine test (CT) is widely used to assess GH secretory status. In this retrospective study we analyzed the reliability of CT and the effect of puberty in a large number of children with short stature who had ...

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...

Background: Hashimoto’s thyroiditis (HT) is the commonest autoimmune disorder in Turner syndrome (TS). Although there are in the pediatric literature many studies on the relationships between TS and HT, only few of them have specifically investigated whether the association with TS might be able to significantly affect the evolution over time of thyroid function in children and adolescents with HT, by conditioning a different thyroid status prognosis.<p class="abstext...

Hypercalcemia and nephrocalcinosis (NC) are rare findings associated with congenital adrenal hyperplasia (CAH), whose pathogenetic mechanisms are still unclear. In this study we aimed to investigate the prevalence of NC in a cohort of Italian children affected with classical form of CAH, and to correlate its association with metabolic control of the disease.Subjects and Methods: This is a multicenter one year-perspective study involving ...