ESPE Abstracts

Background: Inherited forms of congenital hypothyroidism (CH) account for approximately one quarter of all causes of CH. These include biosynthetic defects and developmental and morphological abnormalities.Objective: Describe the Scottish experience of genetic testing in CH.Method: Retrospective study over 37 years up to March 2016. Patients were selected on the basis of imaging findings or strong family history of CH.<p class=...

Background: Synthetic glucocorticoids (GCs) are widely used drugs but their suppression of growth in pediatric patients is a well-known problem. Different mechanisms have been suggested but we still do not know the sensitivity of human growth plate cartilage to GC treatment. Here in this study, we have investigated the direct effects of GC treatment on the expression of crucial genes in the growth plate, such as collagen-2A1, osterix (Osx), and transforming growth factor &#946...

Background: Although differences in pubertal timing alters frequency of indicators of attained stature at the extremes, its magnitude is unknown across ethnic groups of US youths.Methods: We performed analyses of anthropometry and Tanner staging data of 3206 cross-sectional national sample of youths ages 8–18y (53% male (n=1606), 72% Non-Hispanic White (NHW), 9% Mexican American (MA) and 19% Non-Hispanic Black (NHB). Specialized Tanner-stag...

Background: Familial growth hormone deficiency (GHD) with an autosomal dominant inheritance pattern (isolated GHD type II) due to multiple different mutations in the GH1 gene have been described.Objective and hypotheses: Describe the clinical characteristics and mutation analysis of affected individuals in a family with growth hormone deficiency inherited in an autosomal dominant pattern.Method: Medical record review.<p class="...

Background: The age of onset of puberty varies from country to another and, within every country, from one socioeconomic group to another. In Sub-Saharan Africa, particularly in Cameroon, there is paucity of data on this topic.Objective and hypotheses: To determine clinically meaningful normative reference data that describe the timing of sexual maturity indicators among Cameroonian children and to determine factors that influence the onset of this matur...

Background: Continuous glucose monitoring (CGM) measures interstitial glucose and displays trend arrows, showing the direction and rate of change in glucose. Trend arrows allow the child/youth to take action to prevent hyper- and hypoglycaemia. Effective strategies for adjusting insulin for trend arrows are lacking. The JDRF CGM Study Group recommended a 10–20% increase/decrease in the insulin dose. However, the bolus dose is dependent on amount of food to be consumed and...

Background: There is evidence that unstimulated LH concentrations may be appropriate to monitor hormone suppression in children with central precocious puberty (CPP) during treatment with gonadotropin-releasing hormone agonists (GnRHa). Literature suggests that unstimulated LH concentrations <0.3 and >0.8 IU/L are prepubertal and clearly pubertal, respectively. We present secondary analyses of unstimulated LH suppression data from the pivotal trial of th...

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...

Designing monomeric dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments continue to suffer from significant gastrointestinal illnesses. Our own studies have focused instead on the combination of GLP-1 receptor agonists (GLP-1RAs) with neuropeptide Y1- and Y2-receptor (Y1...