ESPE Abstracts

Background: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

Background: Accumulation of fat mass in the development of obesity may result from hypertrophy and/or hyperplasia and is frequently associated with adipose tissue (AT) dysfunction in adults. However, the onset and mechanisms of AT dysfunction are not entirely understood.Objective and hypotheses: We assessed composition, function, lipolysis, and inflammation in 171 AT samples from lean and obese children and adolescents (aged 0 – 18 years) to evaluat...

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

Introduction: The population study of early detection of type 1 diabetes (T1D) in asymptomatic children in the Podlaskie region of Poland is an extension of the Pre-d1abetes Study conducted by our clinic between 2019 and 2023 in collaboration with 14 Polish diabetes centres. A total of 1288 patients aged between 7 months and 18 years were studied with positive family of T1D. Positive 3-screen ELISA values were observed in 112 patients (8.69%). During analysis ...

Introduction: In the literature, there are reports about nephrocalcinosis (NC), hypercalcemia, and hypercalciuria risk in patients with congenital adrenal hyperplasia (CAH). The prevalence and background of nephrocalcinosis is not established. Nephrocalcinosis refers to diffuse calcification in the renal parenchyma, generally in renal pyramids.Aim of the study: The study aimed to evaluate the prevalence of nephrocalcinos...

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome of unknown etiology, associated with high morbidity and mortality. The goal was to characterize endocrine symptoms of patients with ROHHAD syndrome treated in our centre in years 2009-2024. We identified and reviewed the charts of 4 patients with ROHHAD syndrome. The male to female ratio was 1:3. Definitive diagnosis of ROHHAD syndrome was made after alveolar...

Background: Obesity is increasingly being diagnosed in the paediatric population. Obesity during childhood and adolescents is related to an increased risk for cardiovascular diseases, high blood pressure, diabetes mellitus and menstrual disorders including heavy menstrual bleeding, oligomenorrhea, dysmenorrhea. The study aim: is to investigate the incidence of menstrual disorders in adolescents with severe obesity. <...

Introduction: Perrault syndrome is a rare autosomal recessive (AR) disorder (<1:1.000.000). Mutations in several genes, including HSD17B4, HARS2, CLPP, LARS2, TWNK, and ERAL1 have been associated with it, reflecting the genetic and clinical heterogeneity of this condition. It is characterized by bilateral mild to severe sensorineural hearing loss (SNHL) in both sexes and gonadal dysgenesis in 46,XX karyotype females. Ovarian dysfunction ranges from underdev...

Background: Elastargene 3C (E3C) is a cream specifically designed to improve lipoatrophy in patients with diabetes. It is made by many ingredients, among whom are elastin, arnica, collagen, caffeine, and L-carnitine.Objective and hypotheses: We started a 6-month, double-blind, randomized trial to test the efficacy of E3C in children with type 1 diabetes (T1D) using insulin pump (CSII), in whom infusion set usually left little withe scars.<...