ESPE Abstracts

Background: In humans GRB10 negatively regulates GH and IGF1 signaling predominantly via altering phosphorylation of PI3K/mTOR/AKT and MEK/ERK pathways which relate to both growth and metabolic function. We have previously shown that Grb10 knockdown in Zebrafish results in overgrowth with an increase in length and head size. However the impact on weight in relation to length has not been assessed.Objective: To develop a model t...

Background: Adrenal Insufficiency (AI) is a heterogeneous diagnosis comprising multiple central and peripheral causes. The unifying feature is the requirement for glucocorticoid replacement and subsequent risk of life-threatening Adrenal Crisis (AC) and Adrenal Death (AD). Very few studies have investigated rates of AD in children. Multiple studies have reported symptoms of children with AC as interpreted by medical staff but no studies have looked at parental...

Background: Adrenal cortical carcinoma (ACC) in children is rare and aggressive, with the mainstay of treatment being surgical resection, although there have been recent improvements in outcomes with chemotherapy. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations prior to surgery, and post-operative decrease in cortisol can be chal...

Background: Growth hormone insensitivity (GHI) encompasses normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is an emerging entity which is poorly characterised, and, in many subjects, the underlying cause is unclear. Heterozygous dominant negative (DN) variants located in the intracellular/transmembrane domain of the GH receptor (GHR) cause a ‘non-classical’ GHI phenotype.<p class="abst...

Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on glucocorticoid metabolism. We studied monozygotic twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw and catch-up growth on glucocorticoid metabolism.Methods: 46 monozygotic prepubertal twin-pai...

The ‘Developmental Origins of Health and Disease’ (DOHaD) hypothesis encapsulates the relationship between pre- and perinatal exposures causing altered growth and the development of later life disease. Mediators of this relationship have not been fully defined. We have used zebrafish [ZF] (Danio rerio) as a potential model for DOHaD, modifying expression of grb10a, an adapter protein that interacts with the insulin and IGF receptors, to act as a negative r...

Background: Linear growth during spontaneous puberty contributes approximately 20% to adult height in healthy subjects. The impact of gender-affirming hormone therapy (GAHT) on final height in transgender adolescents is sparsely studied.Aim: We aimed to investigate the growth and final height of Danish transgender adolescents.Methods: Our national cohort of transgender adolescents ...

Introduction: Long-acting growth hormone (LaGH) therapy has emerged as a newer treatment option for children with growth hormone deficiency, offering a convenient way of administering growth hormone (GH) injections on a weekly basis. Trials have shown that LaGH formulations are effective in increasing height velocity, improving bone mineral density, and reducing body fat mass in children with Growth hormone deficiency (GHD). The once weekly injections also hav...

Introduction: ACTs comprise adenomas (ACAs) and carcinomas (ACCs), the latter having a poor prognosis. In children, ACTs are functional and thus symptomatic. We investigated whether GC-MS urinary steroid metabotyping can detect tumors and differentiate between adenomas and carcinomas.Method: We investigated 46 patients (median 6.9; range 0.7-17 yrs; 36 females) with ACTs from the GPOH-MET Study (Registry of the German So...

Objective: Low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic and cardiovascular sequelae in later life. Although it is already well known that DHEAS is increased in formerly small-for-gestational-age singletons and in smaller twins compared to their normal-weight co-twin, less is known concerning other adrenal hormones. We analysed diurnal salivary profiles in prepubertal six to eight years old monozygotic twins ...