These ABCC8 missense mutations warrant further studies mainly because of the variable clinical presentation and treatment response.

INTRODUCTION:Evidence associates obesity with glomerular hyperfiltration. Concurrent inflammation, hypertension, dyslipidemia, and insulin resistance represent further established risks to renal health in both children and adults. Our aim was to investigate the relationship between childhood obesity and the risk of renal impairment.

Objectives Early diagnosis of childhood growth disorders, their timely and proper treatment are important for better outcomes.The aim of the present study was to assess the results of the first 18 months of the growth disorders related twinning programme “Partners4Growth” implemented at all tertiary university pediatric endocrinology clinics in Bulgaria. Methods In 2019, Partners4Growth started operation at 7 centres (4 experienced and 3 twin centres) with the main aim of aligning their practices in the shortest possible time. Education of twin centres’ personnel was organized, equipment and methods for growth evaluation and follow-up were standardized. The approach was tested initially at one centre. At baseline and at the 18th month a questionnaire concerning diagnosis and management of recombinant human growth hormone (rhGH) requiring disorders was applied. Results A total of 104 new patients were diagnosed compared to 30 in the previous year. Of those, 91 started rhGH treatment – 65 (64 %) GH deficient, 12 (12 %) Turner syndrome, 7 (7 %) Prader–Willi syndrome patients, and 7 (7 %) born small for gestational age without postnatal catch-up, representing 35.8 % of all currently rhGH treated Bulgarian children. A better geographical coverage and more advanced diagnostic and management practices were achieved. Conclusions Partners4Growth facilitated the alignment of the tertiary pediatric endocrinology centres competences thus leading to an improved diagnosis and treatment of growth disorders as well as better patients’ access. For its short existence, the Programme increased significantly the number of new patients in the difficult times of COVID-19 pandemic thus justifying its continuation.

INTRODUCTION: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signalling pathway genes. Growth hormone (GH) treatment is an established yet not fully standardized treatment. AIM: The aim of this article is to assess the first 2 years of GH treatment in NS patients at a single centre. PATIENTS AND METHODS: A total of 20 (16 males) NS clinically diagnosed regularly followed patients participated (2011-2020). Of these, 9 (45%) had cardiac defects, and 8 (40%) had short stature. Growth hormone deficiency (GHD) was confirmed in 5 patients who started GH treatment, and 2 were treated as short, small for gestational age children. Patients underwent anthropometry, clinical, laboratory and imaging investigations. RESULTS: The mean age at NS diagnosis was 7.8±3.4 years (1.3÷10.5), and at GH start 9.1±1.5 years. At GH start, SDS height was -3.42±0.58 (-4.1÷-2.6), SDS weight -3.07±0.58 (-3.73÷-2.27), and SDS IGF1 -1.12±0.98 (-2.44÷0.25). The mean BA at diagnosis was delayed by 2.6 ± 0.9 years. The GH starting dose was 0.035±0.005 mg/kg/d, and changed little thereafter.The growth velocity for the 1 st year of treatment was 8.9±1.4 cm, and for the 2 nd year 6.9±1.1 cm. The first year ΔSDS height was 0.72 (p=0.002), ΔSDS weight was 0.83 (p=0.025), the 2 nd year increments being insignificant. The 1 st and 2 nd year ΔSDS IGF1 were 1.70 (p=0.007) and 0.25 (n.s.), resp. bone age remained significantly de-layed. No treatment side effects were observed.

Summary In March 2018, in the Clinic of Pediatrics of the University Hospital “G. Stranski ”- Pleven, we have created a Center for diagnosing and treating children with growth disorders, in active collaboration with an established expert center. During the study, 53 children with height <-2 SDS were referred to the newly established Growth Center. The diagnoses of children receiving treatment with growth hormone (GH) were made in clinical settings based on the history, physical status, auxological assessment, imaging studies, basal and stimulated hormone tests, genetic tests. The children‘s mean age was 9.7 ± 4.5 years, with a significant gender difference (p>0.05), living mainly in cities. For 18 months, we treated a total of 11 children (54.5% male) with an average age at the start of GH therapy of 8.1 ± 4.4 years and an average growth velocity of 10.3 ± 7.7 cm/year. Treatment with GH was introduced in Pleven after successfully establishing the Growth Center in the Clinic of Pediatrics. The first results showed a significant increase in the number of diagnosed and treated children whose follow-up we found an acceleration in growth and bone maturation, positive body composition changes, and lack of side effects from the treatment.

Introduction: Normal growth of the child is an index of good health, but it is a limited in time process, and for this reason, timely diagnosis and start of treatment of children with short stature (SS) are crucial for achieving adequate adult height and good quality of life. Aim: The aim of the present interview is to study the knowledge of general practitioners (GPs) about growth disorders and to increase the informational level in the process of creating national referral criteria and algorithms for the management of children with SS. Materials and Methods: GPs from Pleven and Varna (n=40, mean age 54.5±8.85 yrs, work experience 25.9±8.8 yrs, working in urban settings -75%, children in their practices 0-18 -23 079) have completed a questionnaire with 20 questions. All interviewed GPs defined SS as a problem for children. Almost all of them (80%) indicated use of standards for growth evaluation. They claimed that they provided screening for early detection of SS and they knew where to send a child with growth deviation. The main cause of SS, according to GPs, is genetic predisposition (35%), and that both -GPs and parents, are active in diagnosis of SS (82.5%). However, GPs shared that they were faced with some difficulties in the diagnosis of SS because of the "unclear" path of the patient after directing him to РЕЗЮМЕ Въведение: Нормалният растеж на детето е показател за добро здраве, но е ограничен във времето процес, затова навременното разпознаване и започване на лечение при деца с нисък ръст (НР) са ключови за постигане на оптимален краен ръст и добро качество на живот. Цел: Целта на настоящата анкета е да се проучи познанието на личните лекари (ОПЛ) относно отклоненията в растежа и да се увеличи информираността при създаването на национални критерии и алгоритми за поведение при деца с патологичен НР.