ESPE Abstracts

Introduction: Prader-Willi syndrome (PWS) is a rare imprinting disorder with evidence of increasing incidence. Treatment with recombinant human growth hormone (rhGH) has been shown to improve growth, body composition and final height. It is officially approved by the US Food and Drug Administration since 2000, but still not official indication in many countries.Aim: The aim of the current study is to assess the results o...

Introduction: Premature ovarian failure (POF) is defined as a heterogeneous disease leading to amenorrhea and ovarian failure before the age of 40 years. It is found in 1-3% of women of reproductive age, with some negative consequences such as cardiovascular disease, osteoporosis and sexual dysfunction. Triple X syndrome is characterized by POF with primary or secondary amenorrhea, tall stature, large feet. Girls with triple X syndrome show accelerated growth ...

Background: Growth hormone deficiency in conjunction with the function loss of other anterior pituitary hormones is called combined pituitary hormone deficiency (CPHD). The most common congenital CPHD is caused by mutations in genes: PROP1, POU1F1, HESX1, LHX3, LHX4, OTX2, GLI2, and SOX3. POU1F1 mutations are extremely rare among the Indo-European ethnic type (1% of all cases of congenital hypopituitarism) and more common among the Turkic peoples (7.3%...

Introduction: Orthodenticle homeobox 2 (OTX2) is a transcription factor that plays a critical role in brain and eye development. Heterozygous deleterious mutations in this gene lead to eye malformation such as anophthalmia, microphthalmia, coloboma or optic nerve hypoplasia, normal or hypoplastic pituitary gland and normal or ectopic posterior pituitary gland with isolated growth hormone deficiency or combined pituitary hormone deficiency. There is no...

Objective: To study the structure and characteristics of child thyrotoxicosis syndrome.Materials and Methods: At the 1st stage, medical records of patients treated at the Endocrinology Unit of the Children's Hospital named after Z.A. Bashlyaeva of the City of Moscow in 2014-2018 (n=4530) were analyzed. At the 2nd stage, a primary examination of 106 children 3 to 17 years old with a diagnosis of thyrotoxi...

Background: Adrenal hypoplasia congenital associated with DAX-1 (NROB1) gene mutations is a rare cause of primary adrenal insufficiency in male. It can be presented as a part of Xp21 contiguous gene deletion syndrome which characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability (IL1RAPL1) and/or Duchenne muscular dystrophy (DMD).Case report: We report a 6-month-old male infant, which presen...

Objectives: To study predictors of target levels of glycosylated hemoglobin (HbA1c) in children with diabetes mellitus type 1 (DM1), receiving pump insulin treatment.Materials and Methods: 64 children (27 girls, 46 adolescents) with diabetes mellitus type 1 (mean age 12.8±3.5 years, disease duration 4.46±3.1 years, daily insulin dose 0.82±0.24 units) receiving pump insulin treatment for 2.46±1.43 years were studied. The res...

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: Proopiomelanocortin (POMC) deficiency is characterised clinically by adrenal insufficiency, obesity and red hair. As a rule, such patients present early in life with severe hypoglycemia, which leads to initiation of glucocorticoid therapy. We describe here a case of POMC deficiency, where adrenal insufficiency was not diagnosed until the fourth year of life.Objective and hypotheses: To present a case of late diagnosis of POMC deficiency and c...

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...