ESPE Abstracts

In CAH due to 21-OH deficiency, GH treatment combined to GC and MC replacement is still considered to be experimental. We present a patient who has benefited from such treatment. A baby girl was born in term with clitoromegaly and manifested with salt loose at neonatal period. Low serum morning cortisol and sodium with high potassium and 17-OH levels were found resulted in the clinical diagnosis of CAH. The karyotype was 46,XX. Prednisolone and DOXA, the only available hormone...

Background: Overweight (OW) and obesity in paediatric population has been shown to be associated with an increase in prevalence of insulin resistance and type 2 diabetes (T2D) in youth.Objective and hypotheses: The aim of this study was to assess the efficiency and safety of metformin use in combination with lifestyle changes or alone for weight management in OW and obese (OB) children and adolescents.Methods: Study included 145 10...

The aim of this study is to evaluate the modifiable factors of metabolic risk among survivors of childhood acute lymphoblastic leukemia (ALL) treated at a single center in comparison with healthy controls.Forty-seven long-term survivors, aged 9-32 years were compared to 35 age- and sex-matched controls. Anthropometric features and laboratory findings were assessed. The body composition was measured by Dual-energy X-ray absorptiometry (DEXA). The physical...

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: The pathology of thyroid gland is Ukraine is quite common and in 2018y included 277,708 patients with diffuse goiter (36.47 per 1000 population), 2,311 patients (0.30:1000) with nodular goiter, 341 patients with diffuse toxic goiter (0.04:1000), 7,157 (0.94:1000) with autoimmune thyroid disease and 129 patients with thyroid cancer (1.7:100000). However the syndrome of resistance to thyroid hormone (RTH) or Familial Dysalbuminemic Hyperthyroxinemi...

Background: The term ‘disorder of sex development’ (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomic sex is atypical.Materials and methods: A retrospective analysis of the 75 medical cards of patients with DSD since 2000 up to 2017 year was done. The criterion for including patients to the database was ambiguous genitalia and/or a discrepancy between the chromosomal and gonadal/genital sex. At the tim...

Background: We established a neonatal section of the Ukrainian Pediatric Diabetes Registry (UPDR) to identify cases of neonatal diabetes (ND).Objective and hypotheses: We investigated the genetic etiology and treatment of patients with ND.Method: According to the UPDR the number of children (0–17 y.o) with DM1 in 2015 was 8388 (a prevalence of one in 907), with DM2 – 36 (one in 211519) and with ND – 52 (one in 146436...

Background: Congenital primary hypothyreoidism occurs in about 1 of 3 600 life births and is usually detected with newborn screening. Early levothyroxine treatment is the prerequisite for normal psychomotor development of affected children. However, patients suffering from congenital central hypothyroidism are missed by the screening procedure, which may lead to delayed diagnosis and therapy. In very rare cases central hypothyroidism is caused by isolated TSH deficiency due to...

Background: Pseudohypoparathypoidism (PHP) type 1A is a rare endocrine disorders caused by GNAS mutation. Patients phenotype with PHP type 1A include obesity, round facies, brachydactyly, subcutaneous ossifications, short stature. The resistance of action of parathyroid hormone (PTH) leads to hyperphosphatemia, hypocalcaemia and secondary hyperparathyroidism. Hypercalcitoninaemia has been described in limited patients with PHP without thyroid patholog...

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...