Pediatric Endocrinology, Diabetes and Metabolism最新文献

The role of a multidisciplinary diabetes team (MDT) in the treatment of a person with diabetes is emphasized by both Polish and international recommendations. The importance of the availability of psychological care for the well-being and mental health of individuals (and their caregivers), as well as for diabetes management and medical outcomes, is a subject of numerous analyzes. Despite the recommendations and research showing the benefits of psychological intervention and support, there is a scarcity of data on the real availability of such care, both in Poland as well as worldwide.

Introduction: Subclinical hypothyroidism (SH) is a biochemical diagnosis made when a serum thyroid-stimulating hormone (TSH) is ele-vated with circulating thyroid hormone levels within their reference ranges.

Aim of the study: Aim of our prospective non-randomized study was to evaluate the course of SH.

Material and methods: All patients with suspicion of SH referred to the Endocrinology Outpatient Clinic between 2014 and 2018 were recruited to prospective study.

Results: A total of 130 patients with SH were recruited for this study. Thirty-five (26.9%) patients were followed up without levothy-roxine (L-T4) (SH-T0 group) and therapy with L-T4 was randomly introduced in 95/130 (73.1%) SH children (SH-T1 group). We did not find statistical differences in hSDS and BMI Z-score between the SH-T0 and SH-T1 groups (p = 0.761 and p = 0.843, respectively). Introducing L-T4 in patients with short stature did not affect the linear growth at the end of FU ex-pressed as hSDS. OH developed in six children (6.3%) in the SH-T1 group. After conducting a multivariate logistic regres-sion, we found that the baseline TSH concentration and BMI Z-score are possible predictors of OH.

Conslusions: Our study confirmed a low risk of progression of SH to overt hypothyroidism. The majority of patients remains SH or resolved for nor-mal thyroid function. The L-T4 therapy did not effect on linear growth and body weight. The main predictor of worsening to hypothyroidism were a higher TSH level and Z-score BMI.

Introduction: There are few data about effects of COVID-19 on thyroid disease presentation in children, due to difficulties in healthcare services access.

Aim of the study: To assess the differences in hypothyroidism presentation before and during the COVID-19 pandemic.

Material and methods: All paediatric patients with autoimmune hypothyroidism (AIT) diagnosed from January 2017 to December 2022 were analysed.

Results: A total of 150 subjects were enrolled (94 in before and 56 during the pandemic period). Severe AIT was detected in 7.4% before and 12.5% during the pandemic. Age at the onset in the pre-pandemic period was lower ( p = 0.04). Diagnosis delay (time elapsed from onset of symptoms and diagnosis) was significantly different between the before and during the pandemic groups ( p = 0.02). In the pre-pandemic period the TSH value was 447.7 ±59.1, and it was 713.7 ±104.4 mUI/l during the pandemic ( p = 0.04), whereas mean fT4 values were 2.66 ±0.34 and 0.58 ±0.08 ng/l, respectively ( p = 0.0002). Significantly greater thyroid volume and bone age delay SDS were observed during the pandemic ( p = 0.04). Neurological symptoms were mostly observed during the pandemic, especially slow speech and impaired school performance.

Conclusions: A higher rate of severe AIT was observed during the pandemic period, mostly related to difficulties in access to healthcare services. The diagnosis delay led to a more severe biochemical thyroid hormone profile, goitre, and more frequent presence of bone age delay and neurological symptoms at the onset. Recognizing hypothyroidism and recalling symptoms in child-hood, even if often non-specific, is fundamental for avoiding diagnosis delay.

Introduction: There is a significant correlation between elevated LDL cholesterol (LDL-C) levels sustained from childhood and future vascular disease. The study aimed to evaluate the effectiveness and safety of the therapy chosen for children with lipid disorders.

Material and methods: The study group consisted of 37 children with increased LDL-C (13 boys) aged 8.99 ±4.03 years. After 6 months of behavioral treatment, study group was divided into G1 (n = 24) which continued non-pharmacological treatment supported by dietary supplements and G2 (n = 13) in which statin (5-10 mg/day) was added to non-pharmacological treatment. Analysis included: BMI Z-score, total cholesterol (TCh), LDL-C, HDL cholesterol (HDL-C) and triglycerides (TG) measured at several time points.

Results: The concentrations of TCh and LDL-C before treatment were significantly higher in G2 than in G1 (p < 0.001). Due to the treatment, these differences were no longer noticeable at the last visit. In G1 and G2 concentrations of TCh and LDL-C were reduced significantly, greater reduction after the treatment in TCh and LDL-C was observed in G2 than in G1. Moreover, in G1 we noticed reduction of TG after treatment (p < 0.05). The BMI Z-score did not change significantly through the treatment in both groups. G1 also showed a significant negative correlation between BMI Z-score and HDL-C before and after treatment (r = -0.57, p = 0.009; r = -0.52, p = 0.02). Same relationship was noticed also in G2 after treatment (r = 0.67, p = 0.05).

Conclusions: In children with dyslipidemia, regardless of its background, statin therapy is the most effective in lowering LDL-C. However, therapy with lipids-lowering supplements seems to be safe and effective.

Introduction: Prader-Willi syndrome (PWS) is a genetically determined disease that manifests itself in a number of abnormalities resulting, among others, from dysfunction of the hypothalamic-pituitary system. Only integrated, multidisciplinary care gives patients the chance to significantly improve the quality of life and achieve a life expectancy that does not differ from the general population.

Aim: The aim of the study was to summarize the available literature on the management of patients suffering from PWS.

Conclusions: More and more reports based on clinical trials conducted around the world indicate the undeniable benefits of rhGH therapy in patients with PWS in childhood and after the end of growth period. They consist in improving the body composition, improving the lipid profile, increasing bone mineral density and improving the mental state and patients' quality of life.

Many C-peptide assays are commercially available for research and routine use. However, not all assays yield consistent results, especially in the low concentration ranges. We searched the literature describing C-peptide measurements to assess which assays are mainly used in the diabetes research field and if they are specified. Percentages of publications on C-peptide measurements in type 1 diabetes (T1D), type 2 diabetes (T2D) and other forms of diabetes were 32%, 54% and 14%, respectively. In only 54% of the publications the used assay was specified. Information on detection limit, measurement range and variation was provided in 12%, 2% and 11% of publications, respectively. In 22% of all publications no C-peptides concentrations were mentioned. This may be a problem especially for T1D research, where measuring very low levels of C-peptide is becoming increasingly important and concordance between assays is low.

Introduction: Silver-Russell syndrome (SRS) is a rare condition, affects one in 100,000 births. Turner syndrome (TS) is a chromosomal disorder, with an incidence of one in 2,500 females. Patient with SRS and mosaic 45, X/46,X,del(X) karyotypes can have a wide range of phenotypic manifestations. The aim of this article is to present a case report of a patient with an extremely rare and not reported so far genetically confirmed diagnose of Silver-Russell syndrome and Turner syndrome.

Case report: The patient is a 9-years old girl who had a karyotype of 45,X on prenatal amniocytes. After delivery she was small for gestational age and her phenotype was quite consistent with Russell-Silver syndrome: characteristic dimorphic facial skeleton with a triangular face with prominent forehead, thin nose, hypotonia and hemihyperthrophy. The girl was admitted to hospital due to short stature and deep body weight deficiency. Skin fibroblast and DNA analysis showed mosaic karyotype 45,X[14]/46,X,del(X)(p21.2) and hypomethylation of a gene H19 located on chromosome 11p15. At present the patient is treated with growth hormone in our clinic with good therapeutic results.

Conclusions: The diagnosis of one genetic disorder does not rule out the possibility of a second genetic disease. Early diagnosis of coexistence of two different genetic syndromes, although very difficult, may help with quickly, appropriate therapy for patients and prevent them from developing serious complications.

Introduction: Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation.

Case series: All cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far.

Conclusions: Morbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis.