ESPE Abstracts

Introduction: Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogenous condition, and affects one in 100,000 born children. The most well-known genetic mutations in this syndrome are: 11p15 mutation (20–60% patients), and maternal uniparental chromosome 7 disomy (7%–15%). Children with SRS have severely impaired physical growth - intrauterine and after birth. They can be treated with growth hormone (GH).Case report: 8 ye...

Background: Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestation. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli–Leydig cell tumor, individuals with pathogenic germline DICER1 variants could also have lung cysts, cystic nephroma, multinodular goiter, ciliary body medulloepithelioma, genitourinary embryonal rhabdomy...

Background: Testosterone levels in newborns are changing over the first weeks of life. This dynamic change is making the assessment of infants with ambiguous genitalia complicated. The Clinical laboratory at Karolinska offer two different methods for measurement of serum testosterone, ECLIA (electrochemiluminescense immunoassay) and Liquid chromatography–tandem mass spectrometry (LC–MS/MS). It is important to evaluate these two metho...

Background: Vitamin D plays a significant role in musculoskeletal health and various extraskeletal functions making the prevention and treatment of this vitamin (now considered as a hormone) of utmost importance. Literature on requirement/supplementation of vitamin D in asymptomatic children is scarce and this study was an attempt to see the effect of three different doses of cholecalciferol supplementation regimens in children with asymptomatic vitamin D deficiency.<p cla...

Background: Hypogonadism is one of the most frequent endocrine complication after hematopoietic stem cell transplantation (HSCT). In some patients hypogonadism could be transient, but very often coexists with prematury ovarian failure. Classical methods used in the diagnostics of hypogonadism have limitations for the prognosis of ovarian reserve.Objective: The aim of the study was to assess ovarian reserve in patients after HSCT using ev...

Background: Fibroblast growth factor 21 (FGF21) is a metabolic and growth regulator. The growth-promoting effect of GH in children with GH deficiency (GHD) depends on many factors. FGF21 concentration in and its interaction with growth deficiency and growth response to GH therapy in GHD was not examined.Objective and hypotheses: To estimate the FGF21 concentration and its correlation with degree of growth deficiency and growth response in non-obese, prep...

Background: Mutations in GH-1 gene is a rare cause of isolated growth hormone deficiency. Main features of this condition include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature.Objective and hypotheses: 1.56 years old girl was admitted to our hospital because of short stature. She was born at term from closely related healthy parents. Her birth length and weight were 48 cm (SDS: −1.07) a...

Background: In most countries of the world the prenatal glucocorticoid treatment to prevent reproductive losses in hyperandrogenic pregnancies has been found non-efficient. In Russia, up to present, dexamethasone has been listed in the standard threapy of pregnancy noncarrying risk of hyperandrogenic women. Simultaneuously, during the last decade the safety of treating pregnant women with synthetic glucocorticoids has been the subject-matter of intense debates considering poss...

Background: Autoimmune encephalopathy is usually reported in patient with Hashimoto’s thyroiditis and in Graves’ disease is rather rare, especially in children.Method: We report a boy of 15 years diagnosed with Graves’ disease and treated ineffectively with thyrostatics. After 2 years of the therapy he had recurrence of hyperthyroidism and underwent radical treatment with ablative dose of 131I. After 2 weeks the patient suffered...

Background: Recent studies have shown a new link between skeleton, fat tissue, and insulin action. However, clinical data are still limited, especially in children.Objective: The aim of the presented study was to investigate the relationship between bone and fat hormones and glucose metabolism in children with type 1 diabetes mellitus (T1DM) and obesity.Methods: Forty-six T1DM children, mean age 12.2±4.6 years, mean BMI 20.0&#...