ESPE Abstracts

Background: MKRN3 gene, encoding Makorin RING-finger protein 3, is a maternally imprinted gene located at a Prader-Willi syndrome region on chromosome 15q11.13. Deleterious mutations of MKRN3 gene are a common cause of paternally inherited central precocious puberty (CPP), being identified in 33-46% of familial cases and in about 5% and 40% of apparently sporadic female and male cases, respectively.Objectives: To evaluate the presence o...

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...

Background: There are a lot of reasons for missing the diagnosis in neonatal screening for congenital hypothyroidism (CH), but errors in processing samples and reporting results are the most frequent! In Central Serbia screening for CH was instituted in 1983 by determination of the TSH level in dried filter-paper blood spots. All samples are analyzed at one central laboratory. The average number of specimens that are annually screened is 50 000. The screening process was divid...

Introduction: In Europe, GH is approved for short (height SDS <−2.5) children born small for gestational age (SGA) who fail to show catch-up growth by 4 years of age.Methods: This report analysed the patterns of GH dose used in everyday clinical practice based on short children born SGA enrolled in NordiNet® IOS, an observational study evaluating the long-term effectiveness and safety of Norditropin®. Average GH ...

Introduction: Hypercalcaemia is an uncommon electrolyte disorder, frequently discovered incidentally based on routine blood chemistry results.Case report: A 14-year-old adolescent was admitted to the Endocrinology Department due to obesity, gait and depression. His weight had been gradually increasing over the previous 2 years, and on admission his BMI was 31.5 kg/m2. The pain in his legs started a year ago, but worsened progressively and in t...

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare genetic condition characterised by generalised, partial target-tissue insensitivity to glucocorticoids owing to inactivating mutations of the NR3C1 gene.Case presentation: An 8.5-year-old boy was hospitalized because of precocious puberty and arterial hypertension. Over the last year, the appearance of pubic hair and gynecomastia were noted. At the local centre, high leve...

Background: Recombinant human growth hormone (r-hGH) therapy is an effective treatment strategy for children experiencing growth disorders. However, poor adherence to long-term r-hGH therapy can lead to suboptimal catch-up growth. Digital health solutions, such as easypod® connect ecosystem, can facilitate adherence to r-hGH therapy in these patients.Aim: To investigate the adherence to r-hGH therapy administered via...

Background: Early detection of diabetic nephropathy is of great importance. Renal functional reserve (RFR) is the difference between glomerular filtration rate (GFR) in basal conditions and GFR after a protein meal.Objective: To examine renal functional reserve in children with type 1 diabetes mellitus (T1D) in order to detect diabetic nephropathy at early stage.Method: Case control study included patient...