ESPE Abstracts

Introduction: Pallister-Hall syndrome (PHS) is a rare disease with autosomal dominant pattern of inheritance caused by CHD7 gene mutation and characterized by epiglottis malformation, polydactyly or oligodactyly, hypothalamic hamartoma and visceral abnormalities. Central precocious puberty is the most common endocrine abnormality detected in PHS. Regardless isolated growth hormone deficiency, pan hypopituitarism and genitourinary malformation are reported in P...

Congenital hyperinsulinism (CHI) is rare disease which prevalence is estimated as 1:2500 to 1:50000 born newborns. Main reason of the disease are genetic mutations in genes responsible for regulation of insulin secretion. First line treatment is diazoxide therapy.Our patient was diagnosed with CHI at the age of 2 months. Biochemical tests prooved diagnosis of CHI. He presented lack of negative feedback and secreted pathologic amount of insulin – dur...

Introduction: Anemia in children is still quite common, sometimes it is a secondary symptom of another rare disorder. Rendu-Osler-Weber disease, a genetically determined haemorrhagic diathesis, is characterized by the occurrence of vascular malformations leading to bleeding from the nose, skin and mucous membranes and to various internal organs. Diagnosis facilitates the occurrence of the disease in relatives of the first degree, however, due to the progressive nature of vascu...

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: 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...