ESPE Abstracts

Background: Klinefelter syndrome (KS) is the most common cause for hypergonadotropic hypogonadism. Patients with 47,XXY karyotype often have increased gonadotropin levels at early puberty, which stay high during adolescent and adult life due to hyalinisation of seminiferous tubules of testes. We report a clinical case of 47, XXY KS patient with low gonadotropin levels.Clinical case: A boy was referred to an endocrinologist at the age of 12,5 years due to...

Background: Fifteen years ago children born very preterm (<32 weeks of gestation) were reported to be insulin resistant. Neonatal intensive care has since improved considerably, but it is unclear whether this has affected long-term outcomes in those born preterm. Abnormalities in gut microbiome, which influence host metabolism, have been found in preterm newborns.Objective and hypotheses: We aimed to assess whether children born very preterm still ha...

Background: Severe insulin resistant (IR) type A is a rare inherited disorder characterized by glucose metabolism disturbances without obesity, acanthosis nigricans and hyperandrogenia due to INSR defects.Case report: A 10-year-old girl was admitted because of skin papillomatosis and hyperpigmentations since her 7 years. She had early puberty with pubarche at 8 years and telarche at 9 years. Examination revealed normal height and weight (SDS BMI...

Background: We have previously shown in a randomised controlled trial that moderate-intensity exercise over the last 20 weeks of gestation in healthy nulliparous women led to a birth weight reduction of approximately 250 g.Objective and hypotheses: We aimed to assess the long-term effects of exercise in pregnancy on anthropometry and body composition in mothers and offspring 7 years after the intervention. We hypothesized that women who exercised in preg...

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: Carotenoids are potent antioxidants that affect many different metabolic processes. In plasma, carotenoids are transported with lipoproteins. Growth hormone deficiency (GHD) is known to induce oxidative stress and deterioration in the lipid profile, which can change the level and composition of carotenoids. Particularly interesting to measure these parameters in GHD children.Objective and hypotheses: The aim of this study is to examine the am...

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: Insulinomas are extremely rare tumors in children and an uncommon first manifestation of the MEN1 syndrome. An early clinical and genetic diagnosis is very important for the appropriate medical assessment and family counseling. In children, insulinomas are usually benign tumors with only a few reports of malignant cases.Objective and hypotheses: To investigate clinical features, genetic and morphological characteristics of 12 children with pr...

Background: The genetic causes of disorders of sex development (DSD) are difficult to identify since these conditions are refractory to classic genetic approaches. In particular the underlying genetic mutations of most cases of 46,XY DSD is unknown.Objective and hypotheses: Using an exome sequencing approach we aimed to identify new genetic factors involved in 46,XY gonadal dysgenesis.Method: Exon enrichment was performed using Agi...

Background: Screening for congenital hypothyroidism (CH) in the Russian Federation started in 1994. A survey was conducted in 1994 on the basis of 32 laboratories, and since 2007 newborn screening is being carried out in 79 laboratories of 83 regions of the Russian Federation.Objective and hypotheses: To study the prevalence of CH in Russia and in different regions of the Russian Federation.Method: Official statistics on CH screeni...