ESPE Abstracts

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...

Background and objective: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare endocrine disorders caused by genetic or epigenetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH and a complete or partial Albright Hereditary Osteodistrophy (AHO) phenotype. Few data so far exist on LH/FSH, calcitonin and glucose-lipid metabolism involvement, as well as on neurocognitive aspects. The aim of this multicentre study ...

Background: Differences in sex development (DSD) comprise a large group of rare, mostly genetic disorders along the path of human sexual development. Since the Chicago Consensus, health care providers group them in sex chromosome DSD, 46,XY and 46,XX DSD with subgroups regarding their effect on sex hormone synthesis, action or excess, on gonadal development, and others. Incidence of rare DSD is not well established despite public interest.<p class="abstext...

Background: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is no data for Turkish children.Objective: To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.Method: MC4R gene was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1–18 years) who presented dur...

Objective: Continuous subcutaneous insulin therapy (CSII) and therapy with insulin analogues are considered to provide physiological insulin replacement, which results in improvement of diabetes control. Rate metabolic compensation of diabetes mellitus (DM) in children on IPT and basal-bolus insulin therapy on the level HbA1c and self-control of glycemia.Methods: We analyzed retrospectively 88 histories of disease children with type 1 DM. The patients we...

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

Aim of the study: Assessment of the incidence of ovarian functional disorders correlated with thyroid disorders appreciated clinically, functional, and echostructural in a group of diabetic female teenagers according to 25-(OH)- vitamin D serum levels.Method: A group of 31 patients with diabetes mellitus and vitamin D deficiency (mean age 16.3 ± 1.3) was studied compared to a control group (43 teenagers) with diabet...

MODY (Maturity Onset Diabetes of Youth), mitochondrial diabetes, Wolfram syndrome, neonatal diabetes and the group of special syndromes seen due to gene defects that cause insulin resistance are called monogenic diabetes. MODY is an autosomal dominant form of diabetes with a relatively young onset. It constitutes 2-5% of all diabetes cases. The presence of more than one affected family member in extended families has facilitated studies of this type of diabetes. In monogenic d...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

Background: Several studies suggested that hypothyroidism, especially subclinical hypothyroidism (SH), is rather a consequence than one of the causes of excessive weight.Objective and Hypotheses: We analyzed if there is a correlation between serum TSH, free thyroxine (FT4) and anthropometric measures in a group of overweight and obese children.Method: The study included 92 children (46 girls and 46 boys), mean age: 11.79...