Pediatric Endocrinology, Diabetes and Metabolism最新文献

Introduction: Diagnosis of growth hormone (GH) deficiency (GHD) requires confirmation by decreased GH peak in stimulation test (GHST). Despite physiological changes in GH secretion, the same cut-off for GH peak in different GHST is recommended throughout childhood. There are also reports indicating a high rate of false positive GHST results. The aim of the study was to identify auxological parameters relevant for the diagnosis of GHD based on the results of GHST in children with short stature.

Material and methods: Analysis included 1,592 children with short stature, in whom height, weight, body mass index (BMI), GH peak in two GHST and bone age (BA) were assessed. Diagnosis of GHD was based on GH peak in two GHST below 10.0 µg/l, otherwise the diagnosis was idiopathic short stature (ISS).

Results: Growth hormone deficiency was diagnosed in 604 patients (37.9%). There was no difference between GHD and ISS Groups in age, height and BA, while children with GHD had significantly lower (p < 0.001) BMI. The incidence of GHD depended on age, BA, height and BMI. After classifying the patients with respect to nutritional status (BMI SDS), GH peak was the lowest in children with overnutrition, while the highest in ones with undernutrition.

Conclusions: The assumption of the same cut-off value of GH peak for all GHST performed in children should be modified. Interpretation of GHST should be personalized.

Introduction: Diabetes mellitus remains a critical global health challenge, necessitating effective therapeutic interventions.

Aim: This study evaluated the hypoglycemic and pancreatic protective effects of Caesalpinia bonduc leaf extract in streptozotocin-induced diabetic rats.

Material and methods: Twenty-five diabetic rats were randomly assigned to treatment groups receiving 150, 200, and 400 mg/kg leaf extract, glibenclamide (positive control), and placebo for two weeks. Blood glucose levels were measured at baseline, after STZ induction, and at 0, 2, 4, 6, and 24 hours after treatment. Histological assessments of pancreatic tissue were performed, and phytochemical screening identified flavonoids, tannins, and saponins.

Results: The extract significantly reduced blood glucose levels, with the 150, 200, and 400 mg/kg doses lowering glucose from baseline averages of 237.40 ±7.81 mg/dl, 324.00 ±42.26 mg/dl, and 336.00 ±23.34 mg/dl to 103.00 ±4.60 mg/dl, 199.40 ±67.73 mg/dl, and 116.20 ±8.65 mg/dl, respectively, at 6 hours after treatment. Histopathological improvements included reduced necrosis, inflammation, and improved pancreatic morphology.

Conclusions: These findings underscore the extract's dual mechanisms of action - antioxidant protection and insulin secretion enhancement - likely driven by flavonoids. The robust hypoglycemic response and pancreatic tissue protection provided by C. bonduc leaf extracts highlight their potential as valuable adjuncts in diabetes therapy. Further clinical evaluations and mechanistic studies are necessary to substantiate their clinical applicability.

This paper reviews clinical-trial evidence on the use of long-acting growth hormone (LAGH) preparations in children. Three LAGH products have been approved in Europe and the United States for paediatric growth hormone deficiency (GHD): lonapegsomatropin, somapacitan, and somatrogon. Ongoing clinical programmes are evaluating these agents in other causes of short stature that may warrant growth hormone therapy, including Turner syndrome, Noonan syndrome, children born small for gestational age (SGA)/with intrauterine growth restriction (IUGR), idiopathic short stature (ISS), SHOX gene variants, and achondroplasia; the present article summarises the design assumptions of these trials. In addition, the paper discusses the potential role of LAGH in patients with persistent GHD after completion of linear growth, i.e. those transitioning into adulthood and requiring ongoing replacement therapy. Finally, preliminary data are presented on the use of an oral growth hormone secretagogue, ibutamoren, in children with partial GH deficiency.

Introduction: Despite advances in therapy, most persons with type 1 diabetes (PwT1Ds) do not achieve treatment goals. Education is fundamental to the care of PwT1Ds treated with continuous subcutaneous insulin infusion (CSII).

Aim of the study: To evaluate PwT1Ds treated with CSII and receiving in-hospital education and to identify factors associated with treatment effectiveness.

Material and methods: This cross-sectional study included adults with type 1 diabetes (T1D), who received diabetes education using the proprietary Structured Diabetes Education Program, GoPump, during "Insulin Pump Weeks" in 2022-2023. Metabolic control of diabetes was evaluated. Reports from personal insulin pumps, blood glucose meters, and continuous glucose monitoring (CGM) systems were assessed.

Results: Data from 107 individuals with a median age of 26.7 years (Q1-Q3: 19.0-30.8) were analysed, including 65 women (60.7%). The median duration of T1D was 13 years (Q1-Q3: 10.0-18.0), and the median duration of personal insulin pump use was 8 years (Q1-Q3: 5.0-12.0). The median body mass index was 23.9 kg/m². CGM was used by 52.3% of individuals. The median time in range (TIR) was 57.0% (Q1-Q3: 45.0-69.5%), and the median glycated haemoglobin (HbA1c) level was 7.9% (Q1-Q3: 6.8-8.5%). A positive correlation was found between age and TIR (rs = 0.42, p = 0.001). The use of temporary basal rate and dual-wave and square bolus features was positively correlated with TIR (rs = 0.34, p = 0.012 and rs = 0.31, p = 0.021, respectively) and inversely with time above range > 250 mg/dl (rs = -0.37, p = 0.007 and rs = -0.27, p = 0.045, respectively). Lower HbA1c levels were observed in individuals with a higher number of daily boluses (rs = -0.33, p = 0.001).

Conclusions: In the study cohort, older age, more frequent use of advanced insulin pump features, and a higher number of daily boluses were associated with better glycaemic control in adults with T1D.

Given the increasing prevalence and knowledge of autism spectrum disorders (ASD) and inherited metabolic diseases (IMD), the aim of this manuscript was to provide practical implications of the molecular (metabolic) diagnostics of ASD and also give the rationale of selective screening of IMD in paediatric patients presenting with autistic features. A wide range of autistic features have been reported in patients with various IMD, including aminoacidopathies, organic acidurias, cerebral creatine deficiencies, and defects of purines and pyrimidines metabolism. A total of 9 cross-sectional studies reporting children diagnosed with ASD, who were subsequently screened for IMD, were identified. There is no cause-effect relationship be-tween autism spectrum disorders and inherited metabolic diseases; however, all neurometabolic diseases presenting with intellectual disability may meet the criteria for ASD diagnosis.

Introduction: Idiopathic short stature (ISS) is defined as a height more than two standard deviations (SD) below the mean for age and sex for population group without evidence of a systemic, endocrine, nutritional, or genetically determined disorder. The study aimed to analyze the final height (FH) in a group of patients with ISS.

Material and methods: The inclusion criteria were as follows: • height < -2 SD or difference between height and target height (TH) calculated based on parents' height more than -1 SD; • growth hormone secretion above 10 ng/ml in stimulation tests or after falling asleep; • absence of chronic diseases that could be the cause of short stature; • Turner syndrome excluded, and lack of signs suggesting other genetically determined disorders. We evaluated the auxological data of 16 patients among 22 patients with ISS (13 girls and 3 boys) who completed the growth process.

Results: The mean FH in the study group was 150.9 cm, the mean FH SDS was -2.85. Statistical analysis revealed a positive correlation between FH and predicted adult height based on prepubertal bone age (r = 0.905, p < 0.001) and a second evaluation of bone age (r = 0.780, p = 0.13). Statistical analysis revealed a positive correlation between FH SDS and height SD score (height SDS) at the age of 4 and 6 years (r = 0.749, p = 0.033 and r = 0.946, p < 0.001).

Conclusions: Predicted adult height on prepubertal bone age and the height standard deviation score at the age of 4 years and 6 years can help estimate final height in a group of patients with idiopathic short stature.

Introduction: Overweight and obesity are an increasing public health problems in children. Currently, attempts are being made to identify differential markers between metabolically healthy individuals (MHO) and metabolically unhealthy children (MUHO). This study aimed to evaluate the differences in uric acid (UA) levels in children with overweight or obesity classified according to their metabolic phenotype using the 2018 Damanhoury criteria.

Material and methods: Retrospective cross-sectional study, included children aged 5-18 years who were evaluated at a pediatric endocrinology outpatient clinic. Eighty patients were evaluated; 36 were classified as MHO and 44 as MUHO according to the levels of triglycerides (TG), glucose, high-density lipoprotein cholesterol (HDL-C) and blood pressure. The mean difference in uric acid levels was evaluated using Student's t-test. In addition, three insulin resistance index and their possible relationships with UA levels were analyzed.

Results: The mean age was 11.6 years (SD 3.2 years). Uric acid levels showed a statistically significant difference between the MUHO group (mean 5.4 mg/dl -1.3 SD) and the MHO group (mean 4.5 mg/dl -1.4 SD) (p = 0.0069). A moderate positive correlation was found between uric acid levels and TyG ratio (correlation 0.4137) and TG/HDL index (0.3813).

Conclusions: Uric acid levels were higher in MUHO patients and correlated with insulin resistance indexes. These findings could be used as metabolic risk markers for the evaluation of children with overweight/obesity.

Introduction: Ring chromosome 18 is a rare chromosomal disorder, and its association with Prader-Willi syndrome (PWS) is an extremely unusual condition. We described the clinical and biological profile of this association and highlighted the management of this case through GH therapy. To the best of our knowledge, this is the first reported association in the literature.

Case presentation: This report discusses a case of a 9-year-old child diagnosed with both PWS and ring 18 syndrome at the age of 3 years. The diagnosis of Prader-Willi syndrome with ring chromosome 18 was established using CGH ARRAY technique. It showed the absence of expression of paternal chromosome 15 in the 15q11-q13 region, and a karyotype showing ring chromosome 18 according to the formula: 46. XX (37)/46. XX r(18) (p11.3 ;q23) (27).

Conclusions: Our case contributes to a better understanding of the clinical presentation of complex aberrations of chromosome 18 and that of PWS. The main common clinical features of this association were a moderate dysmorphic syndrome, hypotonia, grade II obesity with severe OSA, mild cognitive deficit with learning difficulties, and a discreet scoliosis. Diagnosis and management of this complex disorder require a multidisciplinary approach. The primary focus for those patients is to enhance their quality of life and prevent any potential complications.