ESPE Abstracts

Background: Several criteria for growth response to growth hormone (GH) therapy have been developed. These include height velocity (HV), height standard deviation score (HSDS), ΔHV, and ΔHSDS. Other parameters considered as predictors of growth response include age at start, weight SDS, GH dose, and target height SDS. Among these, the two most important parameters to predict future height before treatment start are HSDS and age.<p class="abstex...

Background: Recombinant human growth hormone (r-hGH) therapy is an effective treatment strategy for children experiencing growth disorders. However, poor adherence to long-term r-hGH therapy can lead to suboptimal catch-up growth. Digital health solutions, such as easypod® connect ecosystem, can facilitate adherence to r-hGH therapy in these patients.Aim: To investigate the adherence to r-hGH therapy administered via...

Background: We present the case of an infant with congenital hyperinsulinism presenting with persisting hypoglycaemias.Case Presentation: The boy was born at 37+3 weeks, weighing 4690g (>99. Percentile, Z-score +3.38). Large for gestational age status was suspected throughout pregnancy, gestational diabetes had been excluded via an oral glucose tolerance test twice. The newborn was initially treated at a secondary car...

At present no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in clinical, molecular, and pathological characteristics between pediatric and adult DTC emphasize the need for specific recommendations for the pediatric population. An expert panel was instituted by the executive committee of the European Thyroid Association (ETA) including an international community of experts from a variety of...

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...

Introduction: Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal axis activity. We tested the hypothesis that multiple alterations in the metabolism of glucocorticoids are required for the development of hypertension in children who become overweight.Methods: Timed spot urine for targeted gas chromatography-mass spectrometry steroid metabolome analysis was collected from (1) overweight/hyp...

Background: Classic Congenital Adrenal Hyperplasia (CAH) needs life-long treatment of glucocorticoids. Compliance with long-term medication is still challenging, particularly in developing countries. However, there has been no prospective study about the strategy to improve compliance in CAH and its relationship with hormonal control and quality of life (QoL) in CAH, especially in underprivileged countries such as Indonesia. This study aimed to determine the r...

Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of c...

Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone (GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the molecular and cellular mechanisms underlying median eminence development and pubertal timing are incompletely understood. Here we show that Semaphorin-6A is strongly expressed by median eminence-resident oligodendrocytes positioned adjacent to GnRH neuron projections and fenestrated capillaries, and that Sem...