ESPE Abstracts

Background: Neonatal diabetes mellitus (NDM) comprises a group of monogenic disorders caused by mutations in genes involved in pancreatic development or insulin secretion. Accurate and rapid molecular diagnosis of NDM is pivotal for making decision on the treatment strategy. Next-generation sequencing (NGS) allows simultaneos analysis of several candidate genes, which facilitates the diagnostic procedure in NDM.Objective and hypotheses: To summarise our ...

Background and aims: To investigate the functional status of the thyroid gland in children with diabetes mellitus type 1.Materials and methods: In the study were included 29 (13 boys, mean age 11.3±2.7 years) patients with diabetes mellitus type 1 from iodine deficient region. The examination included thyroid ultrasound and assessment of the functional state of the thyroid system: thyroid-stimulating hormone (TSH), fT4, fT3, th...

Background and aims: The aim of this study was to investigate the frequency of diabetic ketoacidosis and diagnostic mistakes in onset diabetes mellitus type l in children and their relationship with age.Materials and methods: In this study were included 269 patients (from 7 month to 17 years) in onset diabetes mellitus type l since 2010–2013. All patients were divided in to two groups. The first group consists of 92 patients (children were younger t...

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...

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: &scy;ongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...

Hypogonadism is represented by a hypo- and hypergonadotropic variant. Antymüllerian hormone (AMH) and inhibin B are used to assess ovarian reserve, but in pediatric practice their role has not been studied. The main interest is to conduct the study of ovarian reserve in hypogonadism among girls.Objective of the Research: To compare the content of inhibin B, AMH and estradiol in girls with hyper- and hypogonadotropic hypogonadism...