ESPE Abstracts

Background: Mutations in PROP1 gene are the most common known genetic cause of multiple pituritary hormone deficiency. It is characterized by somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies and pituitary hyper- or hypoplasia. The karyotype 47,XYY occurrs in 1 in every 1000 live male birth. Some studies report that the phenotype of XYY syndrome includes tall stature, behavioral problems and low fertility.Objectiv...

Background: PROP-1 gene mutations are responsible for most of the cases of multiple pituitary hormone deficiencies (MPHD).Objective and hypotheses: We performed to evaluate the final adult height (FAH) in a group of patients with a PROP-1 gene mutations. Twenty-five patients (11 males) with a PROP-1 gene mutation, not treated before, were recruited. All the patients had been treated with a fixed rhGH dose (0.033 mg/kg per day) for 10.5 years (7.0–11...

Background: The most common forms of maturity-onset diabetes of the young (MODY) are MODY-GCK and MODY-HNF1A. Prevalence of MODY in Russian population is unknown.Aims and objectives: To compare clinical laboratory characteristics of MODY-GCK and MODY-HNF1a in children and adolescents, to estimate prevalence of MODY.Method: 151 children and adolescents were screened for mutations in GCK and HNF1A. HbA1c, fasting and stimulated gluco...

Long-term safety of rhGH therapy in childhood has been object of intense investigation in the last decade. Two recent observational studies have focused on the risk of cardiovascular diseases in young adults treated with rhGH during childhood. After subdividing the large cohorts of patients in different risk groups they found that both mortality and morbidity from cardiovascular diseases were higher than the general population in the low risk group including patients with isol...

Introduction: Type 1 diabetes mellitus (T1D) is the most common form of carbohydrate metabolism disorder in childhood. There are also monogenic forms of diabetes. In the world literature, there are isolated mentions of the combination of monogenic and autoimmune forms of diabetes mellitus.Clinical case: A 10-year-old obese patient presented with hyperglycemia. At hospitalization: height 168 cm, weight 87 kg, SDS BMI +3.0. Glycemia 14.4 m...

Background: IGF1 receptor (IGF1R) mutations are associated with pre- and post-natal growth retardation. We describe two monozygotic twins, one of them born small for gestational age (SGA), referred at the age 4 years and 2 months for short stature.Case presentation: The twins were born from non-consanguineous parents at 37-weeks gestational age by caesarean delivery. At birth: patient 1 had weight 2.076 kg (−2.4 SD...

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea. Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of 13 mmol/l was detected. Insulin therapy was not prescribed due to the parent’s refu...

Background: Congenital leptin deficiency is a rare cause of early-onset severe obesity. Clinical features of congenital leptin deficiency include early-onset severe obesity, marked hyperphagia, endocrine and metabolic alterations. Some patients have immune dysregulation.Case report: We describe two siblings from Libya referred for severe obesity. A boy (patient 1) referred at the age of 4 years and 3 months and a girl (p...

Introduction: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in boys with central precocious puberty (CPP). In contrast to girls, in whom more than 90% of cases are idiopathic, it has been reported that 4 up to 75% of boys with CPP have pathological brain lesions.Aim: to evaluate the prevalence of brain lesions in males with isolated CPP and to identify potential clinical and bioc...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: T...