ESPE Abstracts

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-...

Background: Impaired glucose tolerance ((IGT), glucose ≥140mg/dl at 120’ in the oral-glucose-tolerance-test (OGTT)) is prevalent in childhood obesity. It is frequently reversed after weight loss, although an eventual role for metformin treatment has been postulated.Objective: To evaluate the benefits of metformin addition to conservative treatment on weight loss and IGT in obese children.Patients and methods: We studied ...

Background: Hypophosphatasia (HPP) is inherited in an autosomal recessive fashion, although symptoms in heterozygous carriers are described. Age at symptom onset determines six clinical forms with different severity and prognosis, but showing phenotypic overlapping.Objective: We aimed to show this genetic and clinical variability by analyzing two cases.Case 1: Male, born at 38+5 weeks with 2250 g (−2.22 SDS) and 45 cm (&#8722...

Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).Method...