ESPE Abstracts

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...

Background: Achondroplasia is a skeletal dysplasia being the most common cause of rhizomelic dwarfism.Case presentation: We present a 10 years old boy who was first diagnosed prenatally. He had a mutation c1138G>A in the gene FGFR3 in a heterozygotic constellation. His IGF1 levels and IGFBP3 were normal. Two stimulation tests for GH were performed with normal levels of the hormone. His psychomotor development was adequate for his age except for speec...

Background: Congenital glucose–galactose malabsorbtion is a rare autosomal recessive disorder of intestinal transport of glucose and galactose. It is characterized by watery diarrhoea, dehydration, failure to thrive, or early death without appropriate dietary treatment.Case presentation: The patient was 15 days old when he was admitted to the hospital because of continued, severe, watery, acidic diarrhoea and hypernatremic dehydration. The abnormal ...

Background: According to recent European and Russian monitoring hypospadias and cryptorchidism are the most frequent malformations of the urogenital system in children in the general population. Currently there is a lack of information about the impact of assisted reproductive technologies (ART) on the development of congenital malformations, including the urogenital system, although the presence of this abnormality could lead to male reproductive disorders.</...

Background: Hashimoto’s thyroiditis is a common autoimmune disease in pubertal and adolescent girls. In the past years the incidence of this autoimmune disease of the thyroid gland has increased.Objective and hypotheses: We present a 12.5 year old girl who had her first visit at our Pediatric Endocrinology Department at the age of 10 years due to short stature and clinical signs of hypothyroidism. Her height was – 3SD SDS and her BMI was 12.7. ...

Background: Hypophosphatasia (HP) is a rare inherited disorder characterised by defective bone and teeth mineralization because of deficient serum and bone alkaline phosphatase activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. Infantile HP (IHP) is one of the six recognized clinical forms according to age at presentation and clinical features. IHP is characterised by skeletal abnormalities due to demineralization and rachitic changes in the metaphyses, prem...

Background: Hypophosphatasia (HP) is a rare inherited disorder characterised by defective bone and teeth mineralization because of deficient serum and bone alkaline phosphatase activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. Infantile hypophosphatasia (IHP) is one of the six recognized clinical forms according to age at presentation, and clinical features. IHP is characterised by skeletal abnormalities due to demineralization and rachitic changes in the m...

Background: Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Iodine deficiency during pregnancy and infancy may impair growth and neurodevelopment of the off-spring and increase infant mortality.Objectives: To evaluate effects of iodine supplementation in pregnant, lactating women and their infants at the East of Ukraine.Methods: Target group...

Background and aims: Wolfram syndrome is rare, progressive autosomal recessive disease with characteristic neurological and endocrine features. Signs and symptoms appear with different combination during the lifespan in different patients. Here we report the family case of Wolfram syndrome with different phenotype variable.Case presentation: Patient 4 years and 4 months old girl with diabetes mellitus since the age of 2 years and 3 months. Born term, hea...

Background: Intrauterine growth retardation (small for gestational age (SGA)) is connected with perinatal morbidity, neurological pathology and stature.Objective and hypotheses: The aim of our study is to estimate the incidence of SGA and its consequences in newborns and infants at the age 1.Method: The incidence of SGA among newborns in the Udmurt Republic (the region of the European part of the Russian Federation) has been studie...