ESPE Abstracts

Introduction: A fundamental element in the successful diabetes management is the education of patients. Modern technology opens new horizons and provides new tools in empowering patients in their learning process.Objectives: Presentation, evaluation and critical medical review of ‘My Diabetes’ application whose Spanish version has been studied, reviewed and analysed in detail by our endocrinology unit and D-parents. Provide insight into its pot...

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

Background: McCune–Albright syndrome (MAS) is a sporadic and rare disorder, clinically defined by the classic triad of cafè-au-lait skin lesions, polyostotic fibrous dysplasia, and peripheral precocious puberty. Precocious puberty is common in girls, but has been reported in only 15% of affected boys. Clinical trials on therapeutic management of precocious puberty in MAS boys are limited to case reports or small patient cohorts and no data are reported about final he...

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Background: Testicular adrenal rest tumours (TART) may develop in males with congenital adrenal hyperplasia (CAH), with a widely variable prevalence. Having no malignant features, there seems to be no need to remove them. However, these lesions may increase in size and number when exogenous hormone therapy is inadequate. Untreated, may lead to infertility and irreversible damage of the surrounding testicular tissue.Case report: We present two cases, diag...

A female patient was firstly evaluated at the age of 12 years, complaining of headaches and visual loss. Physical examination demonstrated adequate height and weight, Tanner stage P1B1. Papillary edema was confirmed by fundus examination. MRI showed a pituitary macroadenoma, 6.6×7.3×6.1 cm with compression of the optic chiasm and bilateral cavernous sinus invasion. The first prolactin value obtained was 169.164 uUI/ml (normal<210) with the other pituitary axis wi...

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...

Background: In the past decades Brazil has experienced a nutritional transition process characterised by a significant reduction in malnutrition and progressive increase in overweight and obesity. Nutritional education and precocious interventions are useful strategies to combat excess weight in childhood and adolescence. According to the World Health Organization (WHO), there were more than 40 million children overweight in the world in 2011. In Brazil, the prevalence of exce...

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by hyperphosphatemia and abnormal deposit of phosphate and calcium most often around the hips, shoulders and elbows and rarely in the brain.Case presentation: A four-year-old-girl from Arabian origin was referred to the regional paediatric endocrine clinic from the Orthopedics Team due to: recurrent calcinosis of the right calcaneus and incipient left wrist pain...