ESPE Abstracts

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

We report on a nearly 4-year-old girl who presented to the emergency room of our paediatric clinic with high fever and poor general condition, swelling of the neck and swallowing difficulties. Laboratory chemistry showed a marked hyperthyroid metabolic state, so that initially a thyrotoxic crisis in Graves' disease was considered (TSH 0.03 mU/L (-), fT4 28.10 pmol/l (+)). Therefore, a short-term therapy with thiamazole was given. The thyroid autoantibodies were negative. ...

The Loeys-Dietz syndrome (LDS) is a genetic heterogeneous, autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. We present a 16.5-year-old girl with LDS2 caused by a mutation c.1582C>T (p.R5228C) in the TGFBR2 gene and treated with recombinant growth hormone (rGH) du...

It has been established that a random growth hormone (rGH) level can be obtained and is useful within the first 28 days of life for establishing a diagnosis of congenital growth hormone deficiency (cGHD). However, it remains unclear if weight-for-length (WfL), a surrogate for adiposity, impacts these levels, similar to how body mass index in older subjects impacts peak growth hormone levels derived from provocation testing. The objective of this study is to determine the impac...

Background: X-linked congenital adrenal hypoplasia (adrenal hypoplasia congenita, AHC) is a rare life-threating disorder due to pathogenic variants in the NR0B1 gene. It encodes DAX-1, an orphan nuclear hormone receptor, that acts as a transcription factor and is expressed in the adrenals and hypothalamus-pituitary-gonadal (HPG) axis. Therefore, apart from primary adrenal insufficiency, patients present incomplete or absent puberty and infertility due...

Background: Childhood-onset craniopharyngioma patients (CP) often suffer from tumor or treatment-related hypothalamic lesions (HL). These lesions may alter production of oxytocin, which plays a major role in the regulation of eating behavior and body composition.Objective: In CP with different degrees HL, we investigated associations between HL, eating behavior/eating attitudes, and oxytocin saliva concentrations (OSC).<...

Background: Lifestyle interventions are basic tool to treat obesity in the youth. They prevent from civilisation diseases. Globally, there are many programmes including regular meetings with dieticians, exercise specialists, and others. Results are promising, although there’s no consensus regarding one model of recommended diet, exercise’s intensity and frequency of interventions.Objective and hypotheses: Assessment of preliminary results of &#...

Background: Rathke cleft cysts are benign, epithelium-lined intrasellar and/or suprasellar cysts believed to originate from remnants of the Rathke pouch. Although its prevalence in adults is rather high, Rathke cleft cysts are rare in children. Often they are asymptomatic findings, however depending on their size and localization they can present with a wide spectrum of symptoms.Objective and hypotheses: The aim of the study was to analyse the symptoms a...

Background: Despite high survival rates in childhood craniopharyngioma, prognosis is frequently impaired due to sequelae. Radical surgery was the treatment of choice for several decades. However, even at experienced surgical facilities radical surgery can result in hypothalamic disorders such as severe obesity.Objective and hypotheses: We analyzed, whether treatment strategies for childhood craniopharyngioma patients recruited in German studies (KRANIOPH...

Background: Quality of life and long-term prognosis are frequently, often severely impaired in craniopharyngioma (CP) patients.Objective and hypotheses: Knowledge of risk factors for long-term outcome is important for optimisation of treatment.Method: Overall survival (OS) and progression-free survival (PFS), BMI, neuropsychological status (EORTCQLQ-C30, MFI-20), and psychosocial status were analysed in 261 patients with childhood-...