ESPE Abstracts

Introduction: Vitamin D activity is controlled by its receptor (VDR). Increased risk of obesity and metabolic disturbances among certain VDR alleles has been proven. This study was conducted to assess the association between Cdx2 (rs11568820) polymorphism of VDR gene (genotypes: AG, GG) and genetic susceptibility to components of the lipid profile in survivors of acute lymphoblastic leukemia (ALL) treated during childhood.<stron...

Chronic kidney disease (CKD) is one of the most significant medical and socio-economic problems of our time.Purpose of the Research: To study the prevalence of chronic kidney disease in children and adolescents with type 1 diabetes in Uzbekistan.Materials and Methods: For conducting epidemiological studies there were examined children and adolescents of type 1 diabetes. Epidemiological data were st...

Background: Childhood adolescence overweight and obesity are increasing in Romania, but limited information is available on their current trends.Aim: the current study aimed to analyze the trend in prevalence of weight disturbances and stunting in the past 5 years in school aged children from the Transylvania region in Romania.Material and Methods: Two cross-sectional data sets fro...

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...

Differences of sex development (DSD) occur in about 1 in 3000 newborns in Switzerland. The indication and timing of genitoplasty in children with DSDs is a complex issue. In 2012 the Swiss National Advisory Commission on Biomedical Ethics published its position against early irreversible interventions in order to "normalize" the aspect of the external genitalia.We report the case of a child with a 46,XX DSD due to a classical form of congenital a...

Background: MURCS association is a rare developmental disorder that primarily affects the reproductive and urinary systems. MURCS is an acronym which stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities. Males and females with MURCS association often have short stature and might suffer from hearing loss. MURCS anomalies are present at birth but may not be noticed until puberty, and then present as primary amenorrhea, or discovered incident...

Background: In this study we investigated the genetic aetiology of a series patients with DSD seen in Ukraine.Materials and Methods: The Ukraine Pediatric DSD Register has 95 children with DSD between the ages of 0-18 y.o. in 2018 (a prevalence of 1 in 80097). The criterion for including patients to the database was ambiguous genitalia and/or a discrepancy between the chromosomal and gonadal/genital sex. All patients had...

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease, characterized by parathyroid hormone (PTH) resistance and it refers to different mineral disorders of bone metabolism, classified as PHP type 1a (Albright-OHA Hereditary Osteodystrophy), PHP1b and PHP1c (OHA).Four cases reports: Four children were identified as having PHP, being three of them female. PHP was diagnosed at six years of age (three cases) and at...

Background: Aromatase deficiency has been associated with disordered sexual development in infancy and delayed puberty later. The condition responds to estradiol treatment with normalization of gonadotropin levels and pubertal development. We report a girl with a novel Aromatase mutation with persistently elevated gonadotropin levels despite adequate estrogen treatment.Case report: This thirteen and a half year old girl ...

Introduction: NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in 46,XY disorders of sex development (DSD). The clinical, endocrine and genetic features of three 46,XY children from two unrelated families (A and B) with NR5A1 genetic variants are reported.P...