ESPE Abstracts

Introduction: Premature ovarian failure (POF) is defined as a heterogeneous disease leading to amenorrhea and ovarian failure before the age of 40 years. It is found in 1-3% of women of reproductive age, with some negative consequences such as cardiovascular disease, osteoporosis and sexual dysfunction. Triple X syndrome is characterized by POF with primary or secondary amenorrhea, tall stature, large feet. Girls with triple X syndrome show accelerated growth ...

The aim of this study is to evaluate the modifiable factors of metabolic risk among survivors of childhood acute lymphoblastic leukemia (ALL) treated at a single center in comparison with healthy controls.Forty-seven long-term survivors, aged 9-32 years were compared to 35 age- and sex-matched controls. Anthropometric features and laboratory findings were assessed. The body composition was measured by Dual-energy X-ray absorptiometry (DEXA). The physical...

Background: Hyperinsulinaemic hypoglycaemia (HH) is a clinically and genetically heterogeneous group of disorders characterized by persistent hypoglycaemia due to inappropriate insulin secretion from the pancreatic β-cell.Aim: The objective was to analyze the demographic, clinical and genetic characteristics of patients with HH, diagnosed and/or treated at a tertiary endocrine center, part of the European referen...

Growth hormone (GH) has been used for the treatment of short stature due to GH deficiency (GHD) for over 60 years. Height velocity (HV) in the first year of therapy is well studied and its crucial importance for growth outcome in subsequent years is confirmed.Objectives: The aim of this study is to assess the responsiveness to GH treatment in GHD patients of a newly established treatment center before and after change in starting GH dose...

Congenital adrenal hyperplasia due to P450c21 (21-hydroxylase) deficiency is an autosomal recessive disorder presenting as three phenotypes dependent on the residual enzyme activity: two classical ones (salt wasting and simple virilizing, SV) and the milder NCAH. All forms have increased adrenal androgens. Around 0.1% of Caucasians and up to several percent of certain ethnic groups are affected by NCAH. Most NCAH patients remain undiagnosed. Symptoms of NCAH may develop at any...

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...

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...