ESPE Abstracts

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...

Congenital hypothyroidism (CH) is a partial or complete loss of function of the thyroid gland resulting in absent or decreased synthesis and secretion of thyroid hormones affecting infants since birth. Mutations of the hTPO gene are associated with autosomal recessive forms of CH. Based on our TSH screening results, the number of children with eutopic primary CH is increasing. Molecular biology techniques can identify the CH genetic cause after selection based on family histor...

Background: 46,XY Complete Gonadal Dysgenesis (Swyer Syndrome) is a rare cause for DSD with incidence ≈1:80000. It is characterised by defective formation of the gonads as a result of structural anomalies in the sex chromosomes or mutations in specific genes. In 20% of the patients deletion/mutation in SRY can be found. Mutations, deletions or duplications in other genes (NRD5A1, DHH, DAX1, WNT4, DMRT, etc.) are also reported. The phenotype is completely female and the d...

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...