ESPE Abstracts

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...

Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipody...

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...

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: Macroprolactinomas in children below 10 years of age are rare. Usually prolactinomas respond well to dopamine agonists so that neurosurgical resection is rarely necessary. For non-responders to dopamine agonist therapy other extended treatment options have to be considered.Clinical case: We report a 14-year-old boy who presented at the age of 11 years with headaches for 5 years and progressive bilateral vision problems. The diagnosis of a mac...

Background: Children and adolescents with chronic conditions are at increased risk of secondary osteoporosis. In adult patients, long-term anticoagulation (LTA) including Vitamin K antagonist (VKA) treatment is associated with lower bone mineral density and hip fractures. In children and adolsescent, risk factors for impaired skeletal health and the role of LTA on bone metabolism during the vulnerable phase of linear bone growth remain poorly defined.<p cl...

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral en...

Introduction: Adrenarche is characterized by the activation of androgen precursors which are released from the zona reticularis of the adrenal gland. Dehydroepiandosterone (DHEA) is a weak androgen and its conversion to slightly more potent androgens such as Dehydroepiandosterone- sulfate (DHEA-S) is thought to be responsible for the clinical signs of adrenarche. Premature adrenarche is one of the most common endocrine abnormalities causing concern among perip...

Introduction: Generation of neutralizing antibodies (Nab) is a complication in enzyme replacement therapies and can lead to loss of treatment efficacy. Asfotase alfa (AA) was recently approved as the first replacement therapy in severe hypophosphatasia (congenital deficiency of alkaline phosphatase [TNSALP]). We report a case of neutralizing antibody mediated loss of efficacy of AA treatment in hypophosphatasia and the successful result of immune tolerance ind...

Background: Dietary carbohydrate restriction in the treatment of obese adolescents could cause a substantial shift in the substrates used as an energy source, inducing changes on body composition and metabolism, but experience in this age range is limited.Objective: We assessed the influence of 6 months of dietary carbohydrate restriction on body composition and lipid and carbohydrate metabolism in obese adolescents.Method: Thirty-...