ESPE Abstracts

Background: The fluid milieu along the female reproductive tract has a major role in a complex series of events that follow oocyte ovulation. These include oocyte transport in the fallopian tube, the transport and capacitation of sperm, fertilization, transport of the blastocyst and implantation of the embryo in the uterus. These processes are regulated by the activity of ion channels located on the surface of endometrial epithelia. In our previous studies we showed that epith...

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...

Background: Familial Hypercholesterolemia (FH) is an autosomal dominant disorder causing increased levels of total and LDL cholesterol (LDL-C). When onset is in early childhood, it is associated with higher risk of coronary heart disease and hence the emphasis on early identification and strict management to improve the life expectancy. Of the two types of FH, the homozygous variant is the most severe form associated with extremely high levels of LDL.Aim...

Introduction: About 20 thousands of new cases of obesity (Ob) are first registered in children and adolescents in Ukraine annually (morbidity 2.72/1000, prevalence 13.50/1000 of the corresponding population on 01.01.2016). Adolescent Ob shows catastrophic rise (prevalence 8.9/1000 in 2001 vs 28.3/1000 in 2015). Completely unclear the role of Ghr in the etiopathogenesis of obesity in adolescents.Methodology: A total of 39 obese children with HD (14 boys, ...

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...

Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Media...

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: Arteriovenous malformations (AVMs) are rare in kids, estimated to represent 3% of all AVMs. They tend to rupture more frequently than in adults and, usually, are brought to attention after rupture, as the most common non-traumatic intracerebral hemorrhage. AVMs could also present with recurrent seizures or headaches. Their optimal management remains controversial.Case report: We present the case of a 4.5 y old boy, presented in our department...

Background: Individuals born with a 45,X/46,XY karyotype can present with diverging phenotypes from normal male, Turner-like to ambiguous genitalia, the latter classically being called mixed gonadal dysgenesis. No correlation between phenotype and degree of mosaicisms in the karyotype could be ascertained so far, making clinical management of these patients difficult.Objective: To understand, if androgen action through the androgen receptor (AR) is compr...

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects. In recent studies, it was shown that vitamin D could be protective against in age-related macular degeneration and optic neuritis related to demyelinating disorders. Here, we aimed to perform visual evoked potential (VEP) studies before treatment in patients with rickets...