ESPE Abstracts

Introduction: Beta-thalassaemia major is an inherited anemia which requires chronic transfusions and is frequently associated with endocrine dysfunctions secondary to iron overload. The aim of this study was to identify the prevalence of various endocrine complications in beta-thalassaemia major children over a period of 14 years and the factors associated with them.Materials and methods: 61 children with BTM (mean age 12.23 years) registered at the Endo...

Rendu-Osler-Weber syndrome (also called Hereditary Haemorrhagic Teleangiectasia) is an autosomal dominant disorder that results from multisystem vascular dysplasia. HHT syndrome has been described in association with autoimmune disorders, such as Hashimoto thyroiditis, lupus erythematosus, vitiligo, anti-phospholipidic syndrome and pernicious anaemia.We present the case of a 6 year old girl with Rendu-Osler-Weber syndrome who was referred for endocrinolo...

Background: Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton.Case presentation: We present two children (brother 7 years and sister 11 years), investigated for growth retardation, part of five children brotherhood from apparently healthy non-consanguineous couple (mother’s height=158 cm and father’s height=16...

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

Background: Arteriovenous malformations (AVMs) are rare in kids, estimated to represent 3% of all AVMs. They tend to rupture more frequently than in adults and, usually, are brought to attention after rupture, as the most common non-traumatic intracerebral hemorrhage. AVMs could also present with recurrent seizures or headaches. Their optimal management remains controversial.Case report: We present the case of a 4.5 y old boy, presented in our department...

Background: Adenotonsillectomy is one of the most common surgical procedure performed in children in Romania. Child obesity also, seems to follow the same trend of increasing prevalence as worldwide.Objective and hypotheses: To determine if there is a relationship between adenotonsillectomy and postoperative weight gain in children.Method: The retrospective four year study included 235 children. After applying the exclusion criteri...

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...

Background: Bone age (BA) tends to exceed chronological age (CA) in obese children. There are studies showing that insulin may directly influence skeletal growth. Objective: To determine whether there is an association between BA and glucose metabolism in a group of overweight and obese children.Methods: The study included 55 obese or overweight children, mean age: 11.56±3.07 years old. Anthropometric indexes (weight, height, BMI, waist circumferenc...

We present a monocentric cross-sectional study of 55 children referred between 2000 and 2020 for pituitary lesions, who underwent a complete pituitary function assessment. These data were compared to results obtained in a group of 295 adults carrying pituitary lesions undergoing a complete pituitary screening. Follow-up data was available for 50 children and 248 adults. The mean age at diagnosis in children was 12.2±3.7 years (range 2.1-17.9), while in adults was 48.7&#17...

Central diabetes insipidus (CDI) at neonatal age may occur in the setting of intracranial abnormalities that affect the hypothalamus-pituitary system. These conditions are characterized by defective production, transport or secretion of antidiuretic hormone (ADH). This results in inappropriately low ADH levels in the setting of increased plasma osmolality. We present the case of an infant born by C-section at 38 weeks of gestation, with bilateral cheilognatopalatoschisis, naso...