Pediatric Endocrinology, Diabetes and Metabolism最新文献

Introduction: Neonatal sepsis is the third leading cause of neonatal mortality, which occurs due to bacterial infection and is a major public health problem, especially in developing countries. Efforts to reduce the rates of infection in this vulnerable population are one of the most important interventions in neonatal care. This study aimed to compare the levels of biomarkers such as presepsin, procalcitonin, interleukin 6 (IL-6), fetuin, and CRP in cord blood between preterm and term infants and evaluate their association with neonatal sepsis.

Material and methods: A total of 176 infants were included in this study. Cord blood samples were collected from preterm (gestational age < 37 weeks) and term (gestational age ≥ 37 weeks) infants immediately after delivery. Umbilical cord blood was assessed for C-reactive protein (CRP), presepsin, procalcitonin, IL-6, and fetuin by using enzyme-linked immunosorbent assay (ELISA). The Pearson correlation coefficient test (r) was used to test for a positive or negative relationship between 2 (presepsin and fetuin) variables with CRP and procalcitonin. A receiver operating characteristic (ROC) analysis was executed to describe a cutoff value of the studied biomarkers.

Results: When compared to term newborns, preterm infants have considerably higher values for CRP, presepsin, procalcitonin, and IL-6. Elevated levels of presepsin, procalcitonin, and IL-6 in cord blood were significantly associated with an increased risk of neonatal distress in both preterm and term infants (p < 0.05). Fetuin levels showed a trend towards association with neonatal distress but did not reach statistical significant. A Pearson correlation study between CRP and presepsin and fetuin shows that CRP is positively correlated with presepsin; however, procalcitonin shows positive correlation with fetuin. Further, these results were confirmed with ROC analysis.

Conclusions: In early diagnosis of neonatal sepsis, compared with procalcitonin, presepsin and IL-6 seems to provide better early diagnostic value with consequent rapid therapeutic decision making and possible positive impact on neonatal prognosis. Elevated levels of these biomarkers are associated with risk of neonatal distress, highlighting their potential utility as early markers for identifying at-risk infants.

Introduction: Diabetes is undeniably a pandemic of the 21st century. Although type 1 diabetes mellitus (T1DM) only represents 10% of all diabetes cases, it dominates the pediatric population. The number of T1DM cases is accelerating, and Poland is one of the countries with the fastest increase in incidence.

Aim of the study: To evaluate the epidemiological situation in T1DM in Podlaskie region, Poland.

Material and methods: The study included 777 patients (369 girls and 408 boys) under 18. Incidence rates were calculated and standardized to an age-matched population (general population of Poland 2010).

Results: We showed an upward trend in the number of cases during the analyzed period (R2 = 0.6, p = 0.001). The average incidence rate grew during the study period from 19.22/100,000 in 2010 to 34.11/100,000 in 2022, a 1.77-fold increase over the study period. The youngest age group (0-4 years old) showed the most prominent, nearly 2.3-fold rise, from 9.86/100,000 in 2010 to 22.56/100,000 in 2022. We have also demonstrated the possible impact of the COVID pandemic - after a decrease in 2020 we observed an increase of the incidence rate in 2021 up to 38.05/100,000 and in 2022 to 34/100,000.

Conclusions: The incidence of type 1 diabetes in Podlaskie Voivodeship, Poland, continues its upward trend. Various factors may influence this, but the potential impact of the COVID-19 pandemic is worth considering.

The carbohydrate-restricted diets are becoming increasingly popular among the general public, as well as among obese and insulin-resistant individuals, and patients with both type 2 and type 1 diabetes (T1D), including children and adolescents. Nevertheless, the scientific evidence supporting the effectiveness of these diets in T1D is limited. While current general guidelines for childhood nutrition recommend a moderate carbohydrate intake of about 45% of daily calorie requirements, there is no research to establish a single optimal amount of carbohydrate in the diet of people with diabetes. The main reasons for patients to restrict carbohydrates in their diet are the potential to reduce postprandial glycemia variability, improve metabolic control, and reduce the risk of weight gain due to lower insulin doses. On the other hand, the greatest concerns of physicians are the potential to induce dyslipidemia, hypoglycemia, eating disorders, disruption of normal childhood development, or the transition of ketonemia caused by a low-carbohydrate diet (LCD) to diabetic ketoacidosis. We aimed to summarize the latest findings on low-carbohydrate diets, the potential consequences of their use, as well as their suggested benefits and impact on glycemic control in youths with type 1 diabetes.

Introduction: Primary hyperparathyroidism (PHPT) is a rare endocrine disorder in children, often presenting with symptomatic hypercalcemia and end-organ damage.

Aim of the study: We aim to describe the clinical features, treatment outcomes, and follow-up of pediatric PHPT patients at a tertiary center in Portugal.

Material and methods: A retrospective study including all patients under 18 years diagnosed with PHPT between 2012 and 2024. Data on demographics, clinical features, laboratory results, imaging studies, genetic testing, surgical outcomes, and follow-up were collected and analyzed.

Results: Six patients (66.6% male) with a median age of 16 years (range: 9-17) were included. Half of the patients (n = 3) presented with symptoms, including bone pain and nephrolithiasis. A genetic mutation was identified in 50% of cases: 2 patients with MEN 1 and 1 patient with CDC73 mutation. Ultrasound and Tc99m-sestamibi scans demonstrated high concordance (80%) for adenoma localization. Of the four patients who underwent surgery, all had solitary adenomas, achieving biochemical cure with a median follow-up of 103 months. Postoperative complications were minimal, with transient hypocalcemia in 2 patients and one case of hungry bone syndrome. No cases of persistent or recurrent PHPT were observed.

Conclusions: Solitary parathyroid adenoma is the leading cause of pediatric PHPT. Surgical treatment is highly effective and safe, with excellent cure rates and few complications. Genetic testing and individualized imaging strategies are crucial for optimal management. Larger studies are needed to establish evidence-based guidelines for pediatric PHPT.

Introduction: Diabetic ketoacidosis (DKA) can be associated with severe morbidity and mortality in pediatric patients with type 1 diabetes mellitus, such as pyuria. Clinical association of pyuria with urinary tract infections (UTIs) remains unclear. Misinterpretation of sterile pyuria may lead to unnecessary antimicrobial treatment and hospitalization. The aim of the study was to assess pyuria frequency and its clinical relevance by examining clinical, laboratory, and biochemical parameters in pediatric cases with DKA.

Material and methods: The prospective observational study enrolled 150 children with DKA (1-14 years) who were diagnosed based on the International Society for Pediatric and Adolescent Diabetes criteria and admitted to the Children Welfare Teaching Hospital emergency department. Cases were evaluated by clinical history, physical examination, and laboratory parameters (urinalysis, urine culture, random blood sugar, white blood cell count, platelet count, arterial blood gas analysis, bicarbonate level, blood urea, and serum creatinine). Clinical and laboratory parameters were compared between pyuric (63/150) and non-pyuric groups (87/150).

Results: Pyuria was observed in 42% of DKA cases; only 4.7% had culture-confirmed UTIs. Pyuria was significantly associated with older age (p = 0.02), female sex (p < 0.001), lower random blood glucose (p = 0.03), and lower PaO2 (p = 0.009). Degree of dehydration, level of consciousness, serum ketones, and total leukocyte count were insignificant.

Conclusions: Pyuria is common among pediatric patients with DKA but rarely indicates UTIs. Its presence in DKA patients and correlation with various clinical and biochemical parameters may reflect kidney inflammation, urging more clarification. Routine antibiotic therapy based solely on pyuria is not recommended without clinical or microbiological evidence.

Introduction: Patients with Turner syndrome (TS) are at increased risk of metabolic complications, partly as a consequence of truncal obesity, which can already appear in childhood. Growth hormone (GH) therapy is widely used in this population and is known to exert a beneficial effect on body composition (BC). The study aims to evaluate the impact of GH therapy on BC and explore associations between BC parameters and components of metabolic syndrome in girls with TS during a 5-year follow-up.

Material and methods: Twenty-one TS patients were enrolled. Auxological, BC, and biochemical parameters were assessed at baseline (V1), after 3 years (V3), and after 5 years (V5) of GH therapy. Results were available for 21, 20, and 13 patients, respectively. Biochemical phenotypes were determined using carbohydrate and lipid parameters.

Results: The only BC parameter that significantly increased during GH therapy was fat-free mass (FFM). Along with rising insulin-like growth factor 1 levels, fasting and postprandial insulin concentrations, as well as insulin resistance, increased during treatment. Total cholesterol decreased, although without significant changes in its fractions. No significant correlations were found between BC parameters, glucose, and total cholesterol during the GH 5-year follow-up.

Conclusions: Growth hormone therapy exerts a beneficial effect on BC in girls with TS, reflected by an increase in FFM. However, carbohydrate metabolism should be closely monitored, in line with national program requirements, due to the increased insulin resistance during GH therapy. Lifestyle recommendations promoting healthy behaviors should be provided to all patients with TS.

We report a 12-year-old girl with developmental delay, dysmorphic features, and short stature initially diagnosed with growth hormone deficiency at age 7. Despite appropriate growth hormone treatment for four years with documented insulin-like growth factor-1 (IGF-1) normalization (64→241.7 ng/ml), growth velocity remained suboptimal (5-6 cm/year vs. expected 7-8 cm/year). Clinical examination revealed triangular facies, hypertelorism, gingival hyperplasia, moderate intellectual disability, and delayed language development (first words at 3 years). Whole exome sequencing identified a novel de novo heterozygous KMT2C mutation (c.7444_7445insCC, p.Phe2482Serfs*34), confirming Kleefstra-2 syndrome diagnosis. Treatment resistance despite a biochemical response suggests possible post-receptor IGF-1 resistance, potentially related to epigenetic dysregulation. This represents the first documented case of growth hormone deficiency with detailed endocrine characterization in Kleefstra-2 syndrome, expanding the phenotypic spectrum and highlighting the importance of considering genetic syndromes in treatment-refractory short stature.

Cancer diseases and their treatment, genetic diseases, metabolic and autoimmune disorders, hormonal treatment of transgender people with assigned female sex can lead to early female hypogonadism and ultimately to infertility. Diagnosis of hypothalamic-pituitary-ovarian axis failure is based on hormonal tests (anti-Müllerian hormone, follicle-stimulating hormone, luteinizing hormone, sex hormones) and imaging studies (ultrasound, magnetic resonance imaging), but methods for predicting the loss of gonadal function require further refinement. From the patient's perspective, it is important to ensure the possibility of preserving material for use in possible future assisted reproduction procedures. Currently, the only technique that works well in prepubertal girls is ovarian tissue cryopreservation (OTC). The aim of this work is to analyze current methods of preserving fertility in girls and adolescents, their indications, limitations and directions of development. A review of the literature was done using the following keywords: children, adolescents, fertility preservation and studies published between 2020 and 2025. Included were meta-analyses, clinical trials, and systematic reviews. The most advanced method for girls remains OTC, with over 200 documented births, including after prepubertal procedures. Gonadal reserve assessment is based on hormonal tests and imaging. Fertility preservation in children requires an interdisciplinary approach, early diagnosis, and further development of techniques. Establishing standardized procedures and ensuring equal access to care are essential.

Depressive and anxiety disorders are among the most common mental health issues in children and adolescents, significantly affecting psychosocial development, school functioning, and quality of life. Patients with chronic endocrine conditions are considered a particularly vulnerable group. The aim of this study was to review the prevalence and characteristics of depressive and anxiety symptoms among pediatric patients with selected endocrine disorders: growth hormone deficiency (GHD), congenital adrenal hyperplasia (CAH), Graves' disease (GD), Hashimoto's thyroiditis, and central precocious puberty (CPP). A search of the PubMed database was conducted in March and April 2025 for original studies published within the last 10 years, focusing on patients aged 0-18 with the listed conditions. Fourteen studies meeting inclusion criteria were analyzed. A standardized search strategy combining Medical Subject Headings (MeSH) and free-text terms was used, and data were extracted regarding methodology, diagnostic tools, and key outcomes. Children with GHD, CAH, GD, Hashimoto's disease, and CPP had a significantly higher prevalence of depressive and/or anxiety symptoms. In some cases, symptom severity correlated with hormonal parameters (e.g., TRAb, anti-TPO). Most studies were limited by small sample sizes and heterogeneous assessment tools. Pediatric patients with endocrine disorders are at increased risk for anxiety and depressive disorders. Multicenter prospective studies using validated instruments are urgently needed. Integration of psychological assessment into endocrine care should be considered standard.