ESPE Abstracts

Background: Congenital hyperinsulinism possesses considerable clinical heterogeneity attributed partly to its diverse genetic causes.Objective: To present a boy with diazoxide unresponsive hyperinsulinaemic hypoglycaemia due to a homozygous recessive ABCC8 missense mutation, previously reported to be dominant acting and being inherited by his unaffected heterozygous parents.Material and results: The boy was a third preterm child of...

In 2014 Varna Pediatric Endocrine Society started a program for timely diagnosis and treatment of stature deviations. GPs with 23 058 children under their care were trained and provided with a specialized auxological software to warn them for every stature deviation. From the expected 692 children with short stature (3% of the total), only 33 (0.14%) were sent for further evaluation. Due to the unsatisfactory results we decided to organise a new campaign with the help of media...

Prader-Willi syndrome (PWS) is a genetic condition (frequency from 1:8000 up to 1:30 000), which is associated with deletions of chromosome 15 (region 15q11.2), maternal uniparental disomy and impring defects. It is characterized by muscle hypotonia in the early postnatal period, excessive weight gain after 2 years of age, lack of satiety, short stature, hypogonadism and compulsive-like behavior. Every patient has his/her own specific needs that change with age and individuali...

Background: Since its discovery in 2012 the ‘browining’ adipokine irisin is known to lead to increased thermogenesis and energy expenditure. Studies in children are scarce, with results similar to most studies in adults.Objective and hypotheses: To establish a link between total and abdominal fat mass, physical activity and irisin in preschool age.Method: Height, weight and waist circumference (WC) of 40 healthy pre-puber...

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a very rare recently delineated disorder with Dandy-Walker malformation, congenital heart defects and dysmorphic craniofacial features; however, the full spectrum of this disorder has not been determined.Objective and hypotheses: To present a patient with short stature and growth hormone (GH) deficiency as a part of the clinical manifestations of Ritscher-Schinzel syndrome.<p class="abstext...

Background: Non-classic congenital adrenal hyperplasia (NCCAH) and polycystic ovary syndrome (PCOS) present with similar hyperandrogenic symptoms in adolescent girls and may be associated with the development of cardiometabolic disorders.Aim: The purpose of the study was to evaluate the prevalence and the association between the clinical and biochemical parameters of hyperandrogenism and metabolic disorders in girls with...

Background: The most common conditions requiring surgery or radiation therapy of the sella and suprasellar area in childhood are craniopharygiomas and pituitary adenomas. Therapeutic procedures involving pituitary gland often lead to multiple hormonal deficiencies, and experienced multidisciplinary team following guidelines and applying systematic approach could improve outcomes.Aim: To evaluate hormonal replacement ther...

Background: The rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) is a long-known rare condition with a high morbidity and mortality rate, and still unknown etiology.Objective: We aim to present the clinical findings and treatment in a patient with ROHHAD syndrome.Case presentation: A 4-year-old girl had normal development until March 2022 whe...

Background: Polycystic ovary syndrome (PCOS) and non-classical congenital adrenal hyperplasia (NCCAH) are the most common hyperandrogenic disorders in adolescent girls. Though their etiology and pathogenesis differ, there is a significant overlap between physiological, clinical and hormonal findings and physiological phenomena. Adult patients with PCOS have increased prevalence of obesity, metabolic disturbances, increased cardiovascular risk, risk of impaired...

Aim: Evaluation of the results from the campaign GrowInform (2017-2019), a project with the main aim to raise awareness of growth disorders, and secondary aims to facilitate screening for growth deviations in children from areas with no easy access to pediatric endocrinologists, thus achieving earlier diagnosis and treatment.Methods: For 2 years (April 2017 to March 2018), GrowInform acted in 13 cities and towns from Eas...