ESPE Abstracts

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

Introduction: Children with cancer are at increased risk of endocrine complications, especially children with a brain tumor. One of these late effects includes bone disorders (ranging from low bone mineral density (BMD) to osteoporosis). Children with a suprasellar Low Grade Glioma (LGG) may be especially at risk for bone problems due to exposure to multiple treatment modalities, hypothalamic dysfunction and/or decreased mobility in combination with vision los...

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...

Background: The melanocortin-4 receptor (MC4R) pathway is a key regulator of energy balance and satiety. Variants in genes upstream of MC4R encoding leptin receptor (LEPR), proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1(PCSK1) and those involved in Bardet-Biedl syndrome (BBS) can impair MC4R pathway signaling. Clinically, these variants are characterized by hyperphagia (Pathologic insatiable hunger) and early-onset, severe obesity. E...

Introduction: Monogenic defects in the leptin-melanocortin pathway result in hyperphagia and severe, early-onset obesity. Knowledge of the natural history of anthropometric parameters in patients with monogenic obesity is essential for diagnosis. However, reliable data on early childhood weight and height development in affected patients are lacking. This study aimed to evaluate the history of height, weight, and BMI development in early childhood in a Europea...

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...

Introduction: The gold standard for the diagnosis of adrenal insufficiency (AI) is the ACTH stimulation test. According to the guidelines approved by the European Endocrine Society, the ACTH stimulation test should be performed with the administration of the standard dose of i.v. Synachten® 250 µg for adults and children aged ≥ 2 years (infants should receive 15 µg/kg, children ≤ 2 years 125 µg). In many clinical settings a Syna...

Leptin is a type I cytokine and belongs to the long-chain helical cytokine subfamily just as GH, IL-6 and G-CSF. Leptin is produced mainly in white adipose tissue and thereby reflects body energy stores. Leptin serum concentrations are high in obese and low in underweight individuals or in those with low body fat e.g. in athletes and in patients with lipodystrophy. The leptin/leptin receptor system is crucial for the regulation of body weight. Rare homozygous mutations in the ...

Endocrine disorders are the most common causes of secondary hypertension. Early diagnosis and treatment is crucial for prevention of cardiovascular complications. Several rare but important entities like Cushing’s syndrome and pheochromocytoma/paraganglioma can cause endocrine hypertension, in contrast to primary aldosteronism, which is quite frequent. Definition, classification and prevalence: With a prevalence of 6% in unselected patients with hypertension, 5 to...

Background & Aims: Children with acute lymphoblastic leukemia (ALL) frequently receive high doses dexamethasone during treatment, which may induce acute side effects. The aims of the current study were to determine the influence of a five-day dexamethasone course on changes in leptin, fat mass, body mass index (BMI), hunger, sleep and fatigue and to explore the associations between these changes.Methods: Pediatric AL...