ESPE Abstracts

Objective and hypotheses: To evaluate endocrine risk factors of testicular cancer of children with testicular microlithiasis.Method: Under research were 74 patients with testicular microlithiasis (average 11.41±4.02). Heredity, case history, endocrine diseases, anthropometric indicators, ultrasound of the scrotum were evaluated.Results: At 20 of 74 (27%) children microlithiasis was combined with strong risk factors of testicle...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY.Subjects and methods: It was included 248 patients with genital ambiguity, which were divided into groups based on cytogenetic survey. All children with mosaicism 45,X/46,XY evaluated the structure of the external genitalia on the external masculinization score (EMS, range 0–12), ultrasound examination, the definition of anti-Mu...

Objective and hypotheses: To examine anthropometric, hormonal characteristics and their relationship in boys with constitutional delay of puberty (CDP).Method: The study included 47 boys older 13.2 year old with CDP. It evaluated anthropometric indicators, bone age and hormonal status.Results: The patients were divided: the first group consisted of 25.5% (12/47) of boys with pathological growth (Median/Me Ht-SDS=−2.3). Of the...

Background: The antioxidant system that protects tissues from damaging oxidation processes is a universal indicator for metabolic balance. It is known that GH deficiency (GHD) is associated with a high risk of developing metabolic disorders.Objective and hypotheses: The aim of this study was to examine the effects of inadequate GH secretion on the markers of the blood antioxidant system in adult GHD patients.Method: The study inclu...

Background: Endogenous GH pattern is characterized by high peaks (growth signal) and low trophs (metabolic signal). Exogenous GH is given by subcutaneous injection (scGH-injection) daily at bedtime.Objective and hypotheses: To study the factors influencing intra-/interindividual variation of pharmacokinetics and pattern of scGH-injection in GH treated children.Method: One hundred and twenty eight subjects followed yearly ≤ 8 ...

Background: GH-secretion rates for children ranges in pre/early puberty 0.1–11 U/24 h and during mid-puberty 4–40 U/24 h. This can be used to optimize the rhGH treatment doses in children.Objective and hypotheses: To calculated the bioavailable rhGH in relation to injected dose and compare this to GH-secretory rate in healthy children; and to investigate factors influencing bioavailability.Method: One hundred and twenty e...

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

Background: Pseudohypoparathyroidism is a group of rare disorders characterized by tissue insensitivity to PTH and Albright hereditary osteodystrophy (AHO) due to inactivating mutations or epigenetic defects of the GNAS.Objective and hypotheses: Clinical features and molecular characteristics of patients with PHP have been examined.Method: We included 28 patients from 26 families with PHP1a and 1b. GNAS mutation analysis w...

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

Background: Noonan syndrome is autosomal dominantly inherited disease with an incidence of 1:1000 to 1:2500 newborns. It is caused by different gene mutations involved in the RAS/MAP kinase signaling pathway in the cells. Phenotype including expression of dysmorphic features and visceral organ affection is variable. Different gene mutations are found in approximately 60–70% of tested patients.Objective and hypotheses: To report mutational analysis i...