ESPE Abstracts

Case presentation: We recently started a 9-year-old girl with hypoparathyroidism due to a mutation in the PTH gene on a pump therapy with 1–34 rhPTH. She has received calcitriol and calcium since the age of 4 months. Bilateral nephrocalcinosis stage II/III was diagnosed at a young age. So far, her renal function remains normal. During the last 18 months symptomatic hypocalcemic episodes have become more frequent despite increased calcium and calcitriol doses. Continuous r...

Background: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease which is caused by inactivating mutations in Phosphate-regulating neutral endopeptidase, X-linked (PHEX). Due to dysregulation of Fibroblast growth factor 23 (FGF-23), increased systemic levels of FGF-23 lead to chronic renal phosphate wasting and to impaired activation of 25OH-Vitamin D (25OHD). As a result, patients suffer from multiple musculoskeletal symptoms such as long bone def...

Background: McCune–Albright syndrome (MAS) is defined by skin, bone and glands disorders, due to activating mutations in the GNAS1. Clinical presentation is heterogeneous. Reports about GH excess in MAS patients are scarce.Case report: We present the case of an 8-year-old male, previously diagnosed with mono-ostotic fibrous dysplasia of the skull, referred due to signs of pubertal development since the age of 6. The patient presented only 1...

We present the case of a now 20 months old female patient, in whom we diagnosed MAS on the basis of pseudoprecocious puberty and hypercorticism at the age of 10 months. Medical history and photodocumentation suggested that symptoms of hypercorticism were present soon after birth. At age 4 months thelarche had occurred, followed by vaginal bleeding at age 5 months. At first presentation at our outpatient clinic, the girl was severely short (-5 SDS), with only minimally advanced...

Objective: Young women with Turner syndrome are known to be especially at risk for lost of follow-up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. To assess differences in transition readiness might be crucial for identifying special needs in specific patient cohorts when preparing for transfer to adult care. Our hypothesis was, that young women with Turner syndrome would score lowe...

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...

Background/aim: Hyperparathyroidism (HPHT) is a common feature in patients with X-linked hypophosphatemia (XLH) especially when treated with vitamin D analogues and phosphate supplements. Although the exact mechanism is not clear, it is assumed that phosphate supplements taken chronically stimulate parathyroid hormone (PTH) secretion. We prospectively assessed the effect of a novel pathogenetic treatment anti-FGF23 (burosumab) on PTH levels in children with XL...

Background: The acid-labile subunit (ALS) is the crucial third player in the tertiary complex for its function of prolonging the half-life of the IGF1-IGFBP3 binary complexes. IGF1 and IGFBP3 are routinely determined during the diagnostic work-up for growth hormone deficiency (GHD). The aim of the study is to evaluate the relevance of serum ALS as an additional biomarker, alone or in combination with IGF1 and IGFBP3, in the diagnosis of GHD.<p class="abste...

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia. Even though skull and cranio-vertebral anomalies of potential neurosurgical interest are observed in children with XLHR, their actual incidence and characteristics are not well established. We aimed to analyze the incidence of Chiari type I anomalies in children with XLHRMethods and materials: Our retrospecti...