ESPE Abstracts

As of 2022, the Ukraine Pediatric Diabetes Register (UPDR) contained children aged <18 years with DM1- 11014 (1 in 677), with DM2 – 51 (1 in 146274), with neonatal diabetes (ND) – 69 (1 in 108115), and 59 cases (1 in 126440) with MODY. Most studies focus on such parameters as HbA1c, acute complications and quality of life, whereas investigations of the frequency of chronic DM1 complications and glycemic control for internally displaced persons (IDP) have not bee...

Duplicated pituitary gland in association with other midline craniofacial anomalies – also described as DPG-plus syndrome – is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which has not been described in previous...

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

Background: Congenital hyperinsulinism (CHI) is a rare heterogeneous disease. Genetic testing is crucial as identifying the underlying aetiology can guide clinical management.Objective and hypotheses: We investigated the clinical characteristics and genetics of 20 Ukrainian patients with CHI.Methods: Routine clinical and laboratory investigations were performed on 20 patients with hypoglycemia and unsuppressed C-peptide and p-insul...

Background: Micronodular adrenal hyperplasia (MAH) is a rare disease.Objective: Describe the clinical, biological and genetic characteristics of micronodular adrenal hyperplasia (MAH) in children.Method: Retrospective study based on medical records (from the NIH and Bicêtre Hospital) of 47 pediatric patients (age <18 years at first signs of disease) with ACTH-independent Cushing syndrome (AICS) due to MAH proven histologic...

Background: The prevalence of congenital adrenal hyperplasia (CAH) in European countries is reported as 1:10–15 000. It depends on the quality of its diagnostics and efficacy of neonatal screening (NS). In Ukraine the NS was started in 2012.Objective and hypotheses: This is the first study of CAH epidemiology in children 0–18-year-old in Ukraine.Method: In 2013 it was created a database (DB) of Ukrainian children with CAH...

Background: Turner syndrome (TS) is the most well-known and common chromosomal disorder accompanied by delayed growth. According to the Ukrainian national register (UNR) of children with dwarfism the growth retardation is common for all girls with TS.Objective and hypotheses: The aim of the study was to determine the growth parameters of TS girls different age and karyotype, before GH treatment.Method: According to the UNR it was p...

Background: Turner syndrome (TS) is one of the most common genetic disorders associated with abnormalities of chromosome X that occurs in different populations with a frequency of 25–210 per 100 000 female live births.Objective and hypotheses:: The aim of this study was to investigate the prevalence of TS in ukrainian children, as well as frequency variations of karyotype and age of primary diagnosis of TS.Method: We analysed ...

Background: MODY HNF1B variants are most frequently associated with extra-pancreatic manifestations like renal cysts [leading to renal cysts and diabetes (RCAD) syndrome], abnormalities of the uro-genital tract and hypomagnesemia, but may also cause MODY or renal structural disease in isolation, therefore cases of HNF1B MODY still remained largely undiagnosed. In Ukraine, there are currently three patients with MODY HNF1B de novo who...

Background: Hematopoietic stem cell transplantation (HSCT) has become more common in treating malignant and nonmalignant diseases in children. However, HSCT is associated with several late effects that can impair growth, like insufficient growth hormone (GH) secretion, hypogonadism and growth plate damage. Growth hormone treatment (GHRx) is offered but limited data are available on its effect on adult height.Objective: To evaluate the effectiveness of GH...