ESPE Abstracts

Background: Synchronous, multiple central nervous system (CNS) tumors are usually rare in pediatric patients. Pilocytic astrocytomas are the major type of CNS tumors in neurofibromatosis type 1 (NF1).Case presentation: A 6.5-year-old boy was admitted to our hospital for severe emaciation. Profound fat and muscle wasting were the only prominent clinical features. His growth rate was preserved despite his rapid dramatic weight loss (HT: 118 cm, P....

Background: The variation in uptake of daily sc GH-injections is hardly known.Objective and hypotheses: There is a considerable variability in uptake of s.c. GH-injections both within and between children.Method: 65 children used (Genotropin® pen 4/16, needle 12 mm), dose 0.08–0.14 mU/kg per day within trials: TRN 87–010; 88–080; 88–177; followed yearly two–eight times 1992–1999 (n=214). ...

Background and aims: To explore the functional autonomy in adolescents with nodular goitre.Materials and methods: We have examined 66 patients with nodular goiter from iodine deficient region. There were 48 girls (mean age 14.91±1.78 years) and 18 boys (mean age 14.46±2.75 years) among them. Uninodular goitre was diagnosed in 43 patients, 23 patients had multinodular goitre. The survey included thyroid scintigraphy 99mTc and assessment of the f...

Objective: To analyze the structure of puberty delay in girls depending on the etiology of the disease.Materials and methods: 51 girls with puberty delay (14.2±0.82) were examined. Inclusion criteria: absence of secondary sex characteristics at 13; or absence of menarche by age 15 years or the absence of menarche during 3 years from the onset of estrogen-dependent puberty signs development. Exclusion criteria: age ≥18, аmbiguous genital...

Materials and methods: we included 51 girls with puberty delay (mean age 14.2±0.82 years) into the study. Inclusion criteria: no secondary sex characteristics by the age of 13 years; or no menstruation by age 15 years or no menarche during 3 years or more from the onset of estrogen-dependent signs of puberty development. Exclusion criteria: age 18 years or more, аmbiguous genitalia. According to clinical characteristics girls were divided into 3 g...

Objective: assess advantages and disadvantages of the treatment of hypogonadotropic hypogonadism (HH) with rFSH and hCG.Materials: We report the case of а 16-year old patient with complaints of no development of secondary sexual characteristics. Patient was 174 cm (SDS growth 0.25 SD, SDS growth velocity 1.62 SD, SDS BMI -0.4 SD, target height correction 1.01 SD) with Tanner G1 P1 (penis length was 5 cm). Laboratory studies included LH < 0.1 m...

Objective: to evaluate combination replacement therapy (CRT) with rFSH and hCG of hypogonadotropic hypogonadism (HH) in boys appropriateness and effectiveness.Materials: 1 boy with isolated HH (№1) and 2 boys (№2,3) with HH caused by hypopituitarism (HP) included. Antropometric data, Тanner; testosterone (T), LH, FSH, inhibin B, anti-Mullerian hormone (AMH), testicular volumes (TV), bone age (BA) evaluated in all patients. GnRH agonis...

Introduction: Prolonged evolution of an untreated hypothyroidism can lead to thyrotropic cell hyperplasia, which could be indistinguishable from a pituitary macroadnoma on resonance. Differential diagnosis is very important since it allows to avoid aggressive therapeutic behaviors.Case report: We show a 3-year-old girl who, in the context of a study due to psychomotor retardation, borderline head circumference and coarse features, presented in magnetic r...

Background: Congenital hypothyroidism (CH) is an inborn disease with an incidence rate of 1 case per 3,600 newborns of which 15-20% cases are associated with thyroid dyshormonogenesis. The TPO gene encodes thyroid peroxidase. Disease associated with this gene is usually transmitted in an autosomal recessive mode. Hypothyroidism-associated TPO variants are usually biallelic, limited evidence for cases in patients with heterozygous variants exists.Method...

Introduction: The pathogenetic process in type 1 diabetes mellitus includes a complex mechanism between genetic and immunological factors. Chronic autoimmune reaction relies upon the detection on autoantibodies in the patient’s serum long before initiation of the disease. Autoimmune markers include mainly 4 types of antibodies - GAD65, IAA, ICA and IA-2, some present in children less than 10 years (IAA, ZnT8), and some later in life (GAD, IA-2).The presen...