ESPE Abstracts

Background: Serum bone turnover markers may serve as parameters for predicting the growth response to growth hormone (rhGH) treatment.Objective and hypotheses: Assessment of the alkaline phosphatase (ALP) value in early prediction of the effects of rhGH treatment in children with growth hormone deficiency.Method: The study group consisted of 50 children with GHD. ALP, bone-ALP, vitamin D and I...

Background: According to the latest studies vitamin D has an effect on the production and/or secretion of IGF1 in the liver, but the exact mechanism regulating these relationships has not been thoroughly explained.Objective and hypotheses: Evaluation of the relationship between 25(OH)D and IGF1 levels in the serum of children with GH deficiency (GHD).Method: The study group consisted of 76 GH deficient children qualified for GH the...

Background: The process of sexual differentiation is critical for reproduction in nearly all metazoan. Defects in any of the genes involved in either testicular or ovarian development can result in disorders of sex development (DSD). CBX2/M33 is a chromatin modifier that plays an important role in sexual development and its disorders, highlighted by the fact that M33-deficient mice have male-to-female sex reversal and loss-of-function of CBX2 causes 46, XY DSD...

The electrolyte disorders are commonly considered as symptoms of the endocrine diseases concerning the secretion of aldosterone or antidiuretic hormone (ADH). This study is the case report of the 6-month-old girl admitted to the hospital because of the exacerbation of the chronic cough. Failure to thrive and malnutrition was also significant despite the patient’s good appetite reported by parents. She was referred to the department of the paediatric endocrinology due to m...

Background: The process of sexual differentiation is critical for reproduction in nearly all metazoan. Defects in any of the genes involved in either testicular or ovarian development can result in disorders of sex development (DSD). CBX2/M33 is a chromatin modifier that plays an important role in sexual development and its disorders, highlighted by the fact that M33-deficient mice have male-to-female sex reversal and loss-of-function of CBX2 causes 46, XY DSD in humans. Human...

Introduction: Obesity is considered one of the most common chronic diseases worldwide which is associated with chronic, low-grade, sterile inflammation. It leads to variable changes in metabolic and hormonal homeostasis. The aim of our study was to evaluate the impact of obesity associated chronic inflammation on peripheral complete blood count alterations.Material and Methods: 27 overweight/obese and 15 normal-weight ch...

Background: Leptin receptor deficiency leads to severe early-onset obesity and pituitary dysfunction. Here we present the first case of monogenic obesity due to a novel mutation in LEPR gene in Russia.Case report: 16-year-old female patient was admitted to our hospital with morbid obesity and primary amenorrhea. She was born at term with a birth weight of 3360 g to non-consanguineous parents. She had a mild deve...

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...