ESPE Abstracts

Background: The process of sexual differentiation is critical for reproduction in nearly all metazoan. Defects in any of the genes involved in either testicular or ovarian development can result in disorders of sex development (DSD). CBX2/M33 is a chromatin modifier that plays an important role in sexual development and its disorders, highlighted by the fact that M33-deficient mice have male-to-female sex reversal and loss-of-function of CBX2 causes 46, XY DSD in humans. Human...

Managing Graves' disease (GD) should be simple. Stop the immune system from targeting the TSH receptor and the disease is cured. Unfortunately this is not yet feasible in most young people and GD is not a trivial condition for those affected. There are significant advantages and disadvantages of all current treatments with no easy way forwards for many and the family's decisions will reflect their perceptions of medical, radiation and surgical risk. The fact that two o...

Introduction: Primary congenital hypothyroidism (PCH), defined as thyroid hormone deficiency, can be viewed as an anatomical, clinical, biochemical and radiological spectrum.Its etiology includes thyroid dysgenesis (85%) with defects in thyroid gland development and thyroid dyshormonogenesis (15%) with inborn error of thyroxine synthesis or release.There is growing evidence that precise characterization of ...

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...

Aim: The work was initiated to assess efficacy of training and achievement of therapy targets in children and adolescents with type 1 diabetes mellitus in ‘Diabetes Schools’.Method: The five-day training course was conducted in ‘Type 1 Diabetes School’ at the Scientific-Research Institute of Cardiology and Internal Diseases, Kazakhstan Public Health Ministry (Almaty). The training was conducted by means of a structured program contain...

Background: Disorders/differences of sex development (DSD) differ from other rare conditions which are often accompanied by significant morbidity and mortality. With limited exceptions, DSD are not life-threatening and do not predict a given level of physical health or health-related quality of life across the lifespan. The birth of a child with DSD is anxiety-provoking. Stressors include weathering drawn-out diagnostic testing, difficulty absorbing complex medical information...

Introduction: Use of continuous glucose monitoring (CGM) as a diagnostic tool for cystic fibrosis-related diabetes (CFRD) is receiving increasing attention. We aimed to: i) describe the glucose profile by CGM in CF patients >10 years of age; ii) compare CGM and oral glucose tolerance test (OGTT) results; and iii) evaluate lung function and nutritional status changes over the previous year.Methods: Prospective study of CF patients aged ≥10 years...

Introduction: Obesity is considered one of the most common chronic diseases worldwide which is associated with chronic, low-grade, sterile inflammation. It leads to variable changes in metabolic and hormonal homeostasis. The aim of our study was to evaluate the impact of obesity associated chronic inflammation on peripheral complete blood count alterations.Material and Methods: 27 overweight/obese and 15 normal-weight ch...

Background: Leptin receptor deficiency leads to severe early-onset obesity and pituitary dysfunction. Here we present the first case of monogenic obesity due to a novel mutation in LEPR gene in Russia.Case report: 16-year-old female patient was admitted to our hospital with morbid obesity and primary amenorrhea. She was born at term with a birth weight of 3360 g to non-consanguineous parents. She had a mild deve...

Introduction: Pallister-Hall syndrome (PHS) is a rare disease with autosomal dominant pattern of inheritance caused by CHD7 gene mutation and characterized by epiglottis malformation, polydactyly or oligodactyly, hypothalamic hamartoma and visceral abnormalities. Central precocious puberty is the most common endocrine abnormality detected in PHS. Regardless isolated growth hormone deficiency, pan hypopituitarism and genitourinary malformation are reported in P...