ESPE Abstracts

Introduction: Advances in diagnostic capability in the field of DSD hold great promise but need a regular review.Objectives: To study the range of endocrine and molecular genetic variation in a group of boys undergoing investigation for XY DSD.Methods: 157boys with median age of 0.9yrs (range,0,18) evaluated by the DSD Diagnostic Board in Glasgow from 2016to 2021 were included. Seq...

Introduction: Monogenic obesity refers to a group of rare, early-onset forms of obesity and accounts for about 7% of patients with severe pediatric obesity. Recent reports demonstrate the emerging role of Src-homology-2 (SH2) B adaptor protein 1 (Sh2b1), an important component in the leptin-melanocortin pathway, as a key regulator of leptin and insulin signaling, with possible roles in the pathogenesis of obesity and diabetes. SH2B1 deletions are found to be a...

Aim: There is a current lack of international guidelines for managing the endocrine aspects of Noonan syndrome (NS). A clinical practice survey was developed to identify knowledge gaps and differences in the management of patients with NS across Europe.Materials and Methods: A 60-question clinical practice survey was developed for clinical geneticists, paediatric endocrinologists and paediatric cardiologists directly involved in treating...

Objective: KIMS (Pfizer International Metabolic Survey) was a postmarketing surveillance study of growth hormone (GH) replacement in adults and adolescents with GH deficiency (GHD) that concluded in October 2012. This analysis aimed to evaluate the overall safety outcomes from the full cohort of GH-treated patients of KIMS.Methods: Data were collected on adults and adolescents with confirmed GHD and closed epiphyses trea...

Background: There is preliminary evidence that adrenal steroids other than cortisol may be valuable biomarkers for major depressive disorder (MDD). So far, studies have been conducted in adults only, and conclusions are limited, mainly due to small sample sizes. Therefore, the present study was intended to assess whether adrenal steroids (progesterone, 17-hydroxyprogesterone, 21-deoxycortisol, 11-deoxycortisol, cortisol, cortisone, deoxycorticosterone, cortico...

Context: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) require hydrocortisone replacement from birth. Continuous monitoring of therapy during growth is necessary. Until now, children were dependent on off label use with divided hydrocortisone tablets or pharmacy compounded capsules. A licensed paediatric formulation that allows accurate dosing down to 0.5mg is now available.Objective: ...

Background: The human growth pattern varies from intrauterine to extrauterine life, with the GH-IGF axis being immature at birth and IGF-I assuming an important role in promoting postnatal growth. The actions of IGF-I are modulated by its interactions with IGFBPs, with this interaction being regulated by pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2), and thus modifying the amount of free IGF-I.Objective:</strong...

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...

Background: There is a distinct increase in the prevalence of depression with the onset of puberty. The role of peripubertal testosterone levels in boys in this context is insufficiently understood. Moreover, the number of CAG repeats of the androgen receptor gene (AR) and the depression status (subclinical vs. overt depression) may modulate the role of testosterone, but this has not yet been studied in a clinical sample.Methods:...