ESPE Abstracts

Background: The exaggerated adrenarche is an extreme variant of the maturation of the adrenal cortex, often associated with hyperinsulinemia and obesity. Hyperandrogenism by congenital adrenal hyperplasia (CAH) and adrenal neoplasms are differential diagnoses.Case report: Male, 8 years and 3 months, who came from another service with diagnosis of Precocious Puberty and Obesity, already being treated with Leuprolide acetate for 1 year and half. His compla...

Background: Many children with type 1 diabetes (T1D) are asked to measure blood glucose (BG) 4–6 times a day routinely to adjust insulin dosages. There is no evidence though that such high frequency is beneficial to HbA1C or glycemic profile, although this is often claimed.Objectives: We challenged ‘the more BG measurements, the better control’ dogma for alleviation of T1D burden in child life and evaluation of HbA1C.<p class="abstext"...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...

The aim of this study was to evaluate the diagnosis at the first examination and last visit, etiology, prognosis, clinical properties of girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty for ten years and defining the effect of treatment on final height (FHt). In this single-center study, we included 1330 patients who were diagnosed during the years 2004–2014. History, anthropometric data, bone age (BA), hormones and pelvic ul...

Background: Hb E/β-thalassemia is the most common β-thalassemia disorder in Southeast Asia. Children with Hb E/β-thalassemia vary greatly in red cell transfusion requirement. Some are transfusion dependent (TD) whereas others are non-TD (NTD). Iron-overload associated with transfusion dependency causes endocrinopathies such as delayed puberty, short stature and low bone mass. The prevalence of these complications are high in TD patients with iron overload. While...

Background: Treatment goals for central precocious puberty (CPP) in girls include preventing short final height due to early epiphyseal closure, and avoiding premature onset of menarche.Objective and hypotheses: Our aim was to evaluate the timing of menarche and the associated factors among patients with idiopathic CPP or early-onset puberty (EP) who were treated with GnRH agonists (GnRHa).Method: We analyzed clinical and laborator...

Objective and hypotheses: To investigate the frequency distribution of exon 3 deleted (d3-GHR) genetic polymorphism of GH receptor (GHR) in GH deficient (GHD) Chinese children and to explore the correlation between the growth promoting effects of recombinant human GH (rhGH) and exon 3 genetic polymorphism of GHR in GHD children.Method: 111 GHD (excluded small for gestational age) children were treated with rhGH (0.20 mg/kg per week) for 6 months. The bod...

Background: Central precocious puberty (CPP) is a rare disorder that occurs five times more often in girls. Patients are mostly healthy children whose pubertal maturation begins at an early age: girls <8 years; and boys <9 years. Imaging usually reveals no abnormalities in girls while in boys abnormal MRI findings are more frequent.Objective and hypotheses: We describe three cases of CPP in children with autism, a rarely reported association....

Background: Type 1 diabetes mellitus (T1DM) is a complex chronic condition common in children and young people. Structured age-appropriate life-long education for patients and their carers is very important to manage this complex condition.Objective: To critically evaluate the available Structured Education Programmes (SEPs) including psychosocial interventions in children and young people (CYP) with T1DM and its impact on medical and psychosocial outcom...

Background: Homozygous aggrecan (ACAN) mutations have been described in a few skeletal dysplasias whilst more recently, heterozygous ACAN mutations have been reported in few families presenting with idiopathic short stature with advanced bone maturation and premature growth cessation.Case presentation: We describe two novel heterozygous ACAN stop mutations, detected using a skeletal dysplasia NGS panel and confirmed by Sanger sequencing...