ESPE Abstracts

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...

Background: Polycystic ovary syndrome (PCOS) is the most common hyperandrogenic disorder in pubertal girls affecting between 3 and 11 % of them. Menstrual irregularities and hyperandrogenism are the main characteristics of the syndrome. PCOS is associated with obesity, cardiovascular complications, impaired fertility and increased cancer risk in adulthood. Some of these complications are potentially preventable with timely diagnosis, life-style change and phar...

Background: Turner syndrome (TS) is a common chromosomal disorder affecting approximately 1:2500 live female births caused by partial or complete absence of one X chromosome. Its most common clinical features are short stature and gonadal insufficiency. Only about a third of girls with Turner syndrome may have spontaneous puberty.Objective: The aimof this case presentation is to describe the clinical manifestations in th...

Background: Precocious pubarche (PP), defined as the development of pubic hair before 8 years of age in females could be the first sign of a hyperandrogenic condition.Aim: The purpose of the study was to analyze the etiology of premature androgenization of girls with a history for PP and to evaluate their clinical, laboratory and ovarian ultrasound profile.Material and methods: A t...

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: 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: 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: 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...

Background: Rahman syndrome (RMNS) is an autosomal dominant overgrowth-intellectual disability syndrome caused by heterozygous mutations in H1-4 gene. Other frequent features reported in RMNS patients include: facial dimorphism, joint hypermobility, hypotonia, kyphoscoliosis, congenital heart defect, abnormal MRI image of brain and behaviour problems.Case presentation: We report a 11-year-old girl born from 3rd</sup...

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...