ESPE Abstracts

The objective of the study was to evaluate the Pediatric Quality of Life (PedsQL) of children from 8-12 y/o with T1DM, to compare PedsQL perceived by their parents, to understand gender and other factors influence on PedsQL and disease management.We conducted a prospective non-randomized cross-sectional study. Children with T1DM were identified from pediatric endocrinology department registries. The onset of diabetes had to be more than 6 months. All con...

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: Kisspeptins, ligands of G protein-coupled receptor 54 (GPR54) encoded by the KiSS-1 gene, have recently emerged as key players of the gonadotropic axis. It was found that KiSS-1/GPR54 system plays an important role in the neuroendocrine control of gonadotropin secretion, brain sex differentiation, puberty onset and fertility. It is important to know if the kisspeptin serum level could be used as a diagnostic criterion to the stage of puberty or impairment of it in ...

Background: Adrenocortical tumors (ACT) are rare in children. Mostly occurs in younger age, before 4 years and predominantly in girls. ACT represents 1.3% of all carcinomas in paediatric age group and 0.2% of all pediatric neoplasms.Case report: 14 month old girl presented with signs of progressive hirsutism started first few months of life. She was referred to our clinic due to suspect diagnosis of virilizing CAH. Physical exams showed virilization in c...

The purpose: To identify the clinical features of MODY-GCK diabetes which we need to follow of this group of patients.Materials and methods: We examined 35 patients under the age of 18 years with impaired carbohydrate metabolism. Inclusion criteria were: diagnosed carbohydrate metabolism disorder or diabetes mellitus (DM), normal weight, family history of diabetes, no antibodies, normal or slightly decreased C-peptide level for at least 2 years, absence ...

We described a family in which MODY-GCK was detected in 6 people and its course varied.Materials and methods: The diagnosis of GCK-MODY was verified by the proband and his relatives on the basis of direct automatic sequencing and sequencing by Sanger.Results: Proband – a boy of 12 years, diabetes mellitus (DM) type 1 is diagnosed at the age of 11 years. He felt polydipsia, polyuria. Body weight was normal, he has not any disea...

Background: Mathematical models predicting final height (FH) and its standard deviation score (SDS) in children with growth hormone deficiency is an important tool for clinicians to manage treatment process. Previously developed models do not have enough accuracy or are not good enough for practical use.Objective and hypotheses: We used four binary and seven continuous predictors available at the time of diagnosis and start of therapy and developed multi...

We report a case of a 10-year-old girl born at 41st week and spontaneous birth, in therapy with analogous GnRH for idiopathic central puberty. At 4 years bilateral thelarche, performed first and second level investigations and recives diagnosis of early idiopathic central puberty. Since then, therapy with triptorelin 3.75 mg i.m every 21 days was administrated. Regular checks, good compliance, and response to therapy. At 10 years old recurring episodes of headache and vertigo....

Introduction: Female hypospadias (FH) is one of disorders of sex development signs (DSD). Short and wide urethra that opens into the vagina predisposes to occurrence of recurrent infection of urinary tract, vaginal voiding and postoperative narrowing of artificial vaginal introitus (AVI).Aim: Improve the results of correction FH with stenosis AVI using reintroitoplasty separating the urinary and genital tracts in patients with DSD....

Background: Serious mental and physical retardation are sequelae of untreated congenital hypothyroidism. These complications have become rare since the introduction of neonatal screening in Germany.Case report: Here we report about a girl with congenital hypothyroidism, who suffered from extreme short and thickset stature, rough facial features and straw-like hair at the age of 12 years. She had been detected in newborn screening with a TSH of 132 IU/ml....