ESPE Abstracts

Malnutrition, including that caused by malabsorption, is the most common cause of growth failure in children. On the other hand, in children who receive total parenteral nutrition due to extremely severe forms of malabsorption disorders, which involves almost continuous intravenous infusion of nutrients (including glucose), a persistent, functional reduction in growth hormone secretion occurs. A female patient with extreme short bowel syndrome, fed almost entirely parenterally...

Сlinical case: Patient M., born at 35 weeks, the first of monochorionic twins with weight 3890 g (SDS 2.85), length 53 cm (SDS 2.71). From the first hours of life, the patient experienced hypoglycemia up to 1.9 mmol/l, which was relieved by intravenous glucose with a high utilization rate of up to 15 mg/kg/min. CHI was diagnosed at the age of 1 month (glycemia 2.1 mmol/l, insulin-15.2 µIU/ml). Diazoxide therapy was prescribed - 7.3 mg/kg/day. From th...

Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the cardiovascular and metabolic morbidity. The long term outcome in CAH was studied using the Swedish national CAH registry, 588 patients 335 females and 253 males, >80% with known severity of CAH; were compared with 100 controls per patient matched for sex, and year and place of birth. Information on mortalty, cause of death, ...

Introduction: Disorders of sex development (DSD) describes conditions affecting gonadal and adrenal function and therefore to large extent affect fertility. In some cases the gonads have been removed due to risk of malignancy. Information to the patients about their fertility and treatment options have not been optimal in the past.Objective: To describe fertility outcome in the different diagnostic groups of DSD and to assess to what extent assisted repr...

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’...

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

Objective(s): Type 1 Diabetes Mellitus (T1DM) is associated with poor bone health. It is shown that the increased fracture risk in T1DM is multifactorial. The aim of current study is to determine the body weight correlation with bone mineral density (BMD) in type 1 diabetic non-obese patients.Materials and Methods: To evaluate the factors associated with bone mineral density in type 1 diabetic patients a total of 45 pati...

Background: The recent evidence has shown that the skeleton can in turn affect carbohydrate metabolism.Objective and hypotheses: To analyse associations between serum level of sclerostin and as well other bone-related molecules as adipokines and some markers of glucose and lipid metabolism in children and adolescents.Method: 57 patients, 40 with type 1 diabetes mellitus (T1DM), 17 with obesity, and 11 control, healthy age- and BMI-...

Introduction: Metabolically unhealthy obesity (МUO), characterized by cytokine-induced adipopathy with the development of persistent meta-inflammation, is the main cause of metabolically associated diseases of civilization, which are associated with the formation of a diseasome of insulin-resistant diseases.Objective: to investigate the contribution of clinical and genetic predictors to the development of MUO in chil...

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...