ESPE Abstracts

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....

Background: C1q/tumor necrosis factor-related proteins (CTRPs) are the recently recognized members of the adipokine family, secreted from adipose tissue. Some types of CTRPs, including CTRP-13, play an important role in energy metabolism in humans. Also, CTRP-13 was found as an anorexigenic factor in experimental studies.Objective: We aimed to investigate serum CTRP-13 levels in obese and healthy children, as well as the...

Introduction: Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus (T1DM) and infection is the most common precipitating factor for DKA and is responsible for more than 50% of cases.Aim: We evaluated the frequency and severity of DKA in children with T1DM, before and during the coronavirus disease 2019 (COVID-19) outbreak, in order to identify its indirect effects on DKA incide...

Objectives: Modern treatments lead to increased survival rates from childhood cancer. Childhood cancer survivors (CCS) are a growing population group, which is at high risk for cardiometabolic disorders including metabolic syndrome, type 2 diabetes and cardiovascular disease. Obesity is one of the major drivers of these adverse outcomes, resulted from corticosteroids, radiotherapy, sedentary behavior, and precancer obesity. Assessment of obesity could identify...

Objectives: Childhood cancer survivors (CCS) are a growing population group. Current oncology treatments have led to improved patient survival rates and an increase in late effects of treatment. Endocrine disturbances, such as pituitary insufficiency, thyroid dysfunction and obesity are the most common late endocrine effects of oncology treatments. The purpose of the study was to investigate the endocrine health of CCS and to record the prevalence of late endo...

Purpose: Transaldolase deficiency is a rare, multisystemic, autosomal recessive disease of carbohydrate metabolism characterized clinically by IUGR, bicytopenia (70%), congenital heart diseases (60%), dysmorphic features (50%), liver failure, hepatosplenomegaly, nephrolithiasis and endocrine disorders (30%).Case: A 15-year-5-month-old girl patient was admitted with primary amenorrhea. It was learned that the patient, who...

Introduction: Congenital tufting enteropathy (CTE) is a rare autosomal recessive enteropathy that typically presents in early life and is often characterized by persistent diarrhea. Height standard deviation scores (SDS) and body mass indexes are generally low in patients with CTE. However, information about the effects of growth hormone (GH) therapy in these patients is lacking.Case Presentation: A 13-year-old girl with...

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...