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Journal of pediatric endocrinology & metabolism
Freund Pub. House
Journal of pediatric endocrinology & metabolism

Freund Pub. House

0334-018X

Journal of pediatric endocrinology & metabolism/Journal Journal of pediatric endocrinology & metabolismSCIISTP
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    Nephrogenic diabetes insipidus: a comprehensive overview

    Soares Vaz de Castro, Pedro AlvesBitencourt, Leticiade Oliveira Campos, Juliana LacerdaFischer, Bruna Luisa...
    14页
    查看更多>>摘要：Nephrogenic diabetes insipidus (NDI) is characterized by the inability to concentrate urine that results in polyuria and polydipsia, despite having normal or elevated plasma concentrations of arginine vasopressin (AVP). In this study, we review the clinical aspects and diagnosis of NDI, the various etiologies, current treatment options and potential future developments. NDI has different clinical manifestations and approaches according to the etiology. Hereditary forms of NDI are mainly caused by mutations in the genes that encode key proteins in the AVP signaling pathway, while acquired causes are normally associated with specific drug exposure, especially lithium, and hydroelectrolytic disorders. Clinical manifestations of the disease vary according to the degree of dehydration and hyperosmolality, being worse when renal water losses cannot be properly compensated by fluid intake. Regarding the diagnosis of NDI, it is important to consider the symptoms of the patient and the diagnostic tests, including the water deprivation test and the baseline plasma copeptin measurement, a stable surrogate biomarker of AVP release. Without proper treatment, patients may developcomplications leading to high morbidity and mortality, such as severe dehydration and hypernatremia. In that sense, the treatment of NDI consists in decreasing the urine output, while allowing appropriate fluid balance, normonatremia, and ensuring an acceptable quality of life. Therefore, therapeutic options include nonpharmacological interventions, including sufficient water intake and a low-sodium diet, and pharmacological treatment. The main medications used for NDI are thiazide diuretics, nonsteroidal anti-inflammatory drugs (NSAIDs), and amiloride, used isolated or in combination.
      原文链接:
    • NSTL
    • Walter De Gruyter

    Prevalence of type 2 diabetes mellitus, metabolic syndrome, and related morbidities in overweight and obese children

    Dundar, IsmailAkinci, Aysehan
    7页
    查看更多>>摘要：Objectives The aim of the study was to determine the prevalence of metabolic syndrome (MetS), type 2 diabetes mellitus (T2DM), and other comorbidities in overweight and obese children in Malatya, Turkey. Methods Retrospective cross-sectional study. We studied 860 obese and overweight children and adolescents (obese children Body mass index (BMI) >95th percentile, overweight children BMI >85th percentile) aged between 6 and 18 years. The diagnosis of MetS, impaired glucose tolerance (IGT), impaired fasting glucose (IFG), and T2DM were defined according to modified the World Health Organization criteria adapted for children. Other comorbidities were studied. Results Subjects (n=860) consisted of 113 overweight and 747 obese children of whom 434 (50.5%) were girls. MetS was significantly more prevalent in obese than overweight children (43.8 vs. 2.7%, p<0.001), and in pubertal than prepubertal children (41.1 vs. 31.7%, p<0.001). Mean homeostasis model assessment for insulin ratio (HOMA-IR) was 3.6 +/- 2.0 in the prepubertal and 4.9 +/- 2.4 in pubertal children (p<0.001). All cases underwent oral glucose tolerance test and IGT, IFG, and T2DM were diagnosed in 124 (14.4%), 19 (2.2%), and 32 (3.7%) cases, respectively. Insulin resistance (IR) was present in 606 cases (70.5%). Conclusions Puberty and obesity are important risk factors for MetS, T2DM, and IR. The prevalence of MetS, T2DM, and other morbidities was high in the study cohort. Obese children and adolescents should be carefully screened for T2DM, insulin resistance, hyperinsulinism, dyslipidemia, hypertension, IGT, and IFG. The prevention, early recognition, and treatment of obesity are essential to avoid associated morbidities.
      原文链接:
    • NSTL
    • Walter De Gruyter

    Impact of sports participation on components of metabolic syndrome in adolescents: ABCD growth study

    de Menezes, Veronica AlvesTorres, Wesleyde Lima Mesquita, Eduardo Duartede Moraes Chagas, Lucas Gabriel...
    8页
    查看更多>>摘要：Objectives This study aimed to analyze the impact of sports participation (12 months of practice) on the components of metabolic syndrome (MetS) in both sexes. Methods This is an observational longitudinal study, a part of which is entitled "Analysis of Behaviors of Children During Growth" (ABCD Growth Study), Presidente Prudente, Sao Paulo, Brazil. The sample was composed of 171 adolescents (112 boys and 59 girls), divided into non-sports and sports groups. High-density lipoprotein-cholesterol (HDL-c), triglycerides, and glucose were analyzed by the colorimetric method of dry chemistry and processed biochemically. Systolic blood pressure and diastolic blood pressure were measured using an automatic device. Body fat was estimated using a densitometry scanner. Results Adolescents who practiced sports were younger (p-value=0.001) and had a lower peak height velocity (p-value=0.001) than the non-sports group. The differences (Delta) after 12 months were of greater magnitude for the sports group when compared to the non-sports group (p-value=0.013), glucose (moderate magnitude in favor of the sports group; p-value=0.001), HDL-c (small magnitude in favor of the sports group; p-value=0.0015), and MetS (moderate magnitude in favor of the sports group; p-value=0.001). Conclusions The practice of sports in adolescents had a protective effect on the metabolic components of MetS.
      原文链接:
    • NSTL
    • Walter De Gruyter

    Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability

    Inci, AsliKilic Yildirim, GoncaCengiz Ergin, Filiz BasakSari, Sinan...
    12页
    查看更多>>摘要：Objectives To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis. Methods The data from the electronic hospital records of 25 patients diagnosed with liver GSD IX was reviewed. Symptoms, clinical findings, and laboratory and molecular analysis were assessed. Results Of the patients, 10 had complaints of short stature in the initial presentation additionally other clinical findings. Elevated serum transaminases were found in 20 patients, and hepatomegaly was found in 22 patients. Interestingly, three patients were referred due to neurodevelopmental delay and hypotonia, while one was referred for only autism. One patient who presented with neurodevelopmental delay developed hepatomegaly and elevated transaminases during the disease later on. Three of the patients had low hemoglobin A1C and fructosamine values that were near the lowest reference range. Two patients had left ventricular hypertrophy. Three patients developed osteopenia during follow-up, and one patient had osteoporosis after puberty. The most common gene variant, PHKA2, was observed in 16 patients, 10 variants were novel and six variants were defined before. Six patients had variants in PHKG2, two variants were not defined before and four variants were defined before. PHKB variants were found in three patients. One patient had two novel splice site mutations in trans position. It was revealed that one novel homozygous variant and one defined homozygous variant were found in PHKB. Conclusions This study revealed that GSD IX may present with only hypotonia and neurodevelopmental delay without liver involvement in the early infantile period. It should be emphasized that although liver GSDIX is thought of as a benign disease, it might present with multisystemic involvement and patients should be screened with echocardiography, bone mineral densitometry, and psychometric evaluation.
      原文链接:
    • NSTL
    • Walter De Gruyter

    Evaluation of patients with phenylalanine metabolism disorder: a single center experience

    Erdol, SahinBilgin, Huseyin
    5页
    查看更多>>摘要：Aim The aim is to evaluate the clinical, demographic and laboratory data of the patients we followed up with phenylalanine metabolism disorder. Materials and methods In this study, patients with phenylalanine metabolism disorder who applied to Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Pediatric Metabolism Department between 2011 and 2021 were retrospectively examined. The files of 397 patients who were followed up in our pediatric metabolism outpatient clinic and were found to have phenylalanine metabolism disorder by plasma phenylalanine level and molecular genetic analysis were evaluated. Results According to the highest plasma phenylalanine levels at admission, mild hyperphenylalaninemia phenotype constituted the largest group of 397 patients with 282 cases (71.1%), while the least common phenotype was malignant phenylketonuria (BH4 metabolism disorder) with four patients (1.0%). The number of patients with classical phenylketonuria was 90 (22.6%). 61 (62.8%) of 97 phenylalanine metabolism disorder cases who underwent BH4 loading test had a response. The mean phenylalanine level of the patients was 3.62 +/- 1.31 mg/dL in mild hyperphenylalaninemia, 7.98 +/- 3.99 mg/dL in mild phenylketonuria and 11.71 +/- 4.39 mg/dL in classical phenylketonuria. While 241 (76%) of 317 patients younger than 8 years old were in the well-controlled group, 76 (24%) were in the poorly-controlled group. While 41 (53.9%) of 76 patients older than 8 years of age were in the well-controlled group, 35 (46.1%) were in the poorly-controlled group. Conclusions In our study, the largest patient group consisted of patients with mild hyperphenylalaninemia, and the least common phenotype was mild phenylketonuria.
      原文链接:
    • NSTL
    • Walter De Gruyter

    The association of grandparental co-residence and dietary knowledge with excess body weight among children aged 7-15 years in China

    Zhu, YaxinWang, WeiLe, YingYang, Wei...
    8页
    查看更多>>摘要：Objectives To investigate the impact of grandparent's co-residence and dietary knowledge on the overweight and obesity risk among school-age children in China. Methods Data of 790 children aged 7-15 years were retrieved from the China Health and Nutrition Survey (CHNS). Co-residential status was evaluated using household and individual ID. Dietary knowledge was assessed using 17 dietary statements, which was scored by participants. Three principal factors were extracted by factor analysis. Logistic regression analysis was applied to examine the influence of grandparent's co-residence and dietary knowledge on the weight status of the child. Results The overweight and obesity incidence of the children increased significantly when they co-reside with two grandparents (OR=1.447, 95CI: 1.001-2.090, p=0.049). Mother's dietary knowledge regarding to protein-related food choices (PT) scored higher was associated with the increased risk (OR=1.270, 95CI: 1.059-1.523, p=0.010). For grandmother's dietary knowledge, the higher score in balanced food consumption (BF) was associated with the decreased overweight and obesity risk (OR=0.456, 95CI: 0.294-0.706, p<0.001). Grandfather's dietary knowledge in BF showed the similar result (OR=0.454, 95CI: 0.271-0.759, p=0.003). Conclusions Living with two grandparents is associated with higher overweight and obesity risk, but grandparents with an adequate knowledge in the balanced food consumption may decrease the risk.
      原文链接:
    • NSTL
    • Walter De Gruyter

    Clinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study

    Bouca, BrunoNogueira, AndreiaCaetano, JoanaCardoso, Rita...
    4页
    查看更多>>摘要：Objectives Polyglandular autoimmune syndromes (PAS) are characterized by the association of two or more autoimmune diseases (AID) and are classified into four types. PAS type 1 is more frequently manifested in childhood, but the prevalence of other PAS in children, less described in the literature, seems to be underestimated. Methods This study aimed to evaluate the prevalence of PAS in a selected pediatric population of 879 children with Diabetes mellitus type 1 (DM1), autoimmune thyroid disease (AITD), and Addison's disease (AD) followed in our hospital for 10 years and describe and classify the manifestations of different PAS. Results We diagnosed 35 children with PAS, most fulfilled criteria for PAS type 3 (65.7%), and AITD was the AID more frequently detected (74.3%). PAS type 1 was not diagnosed in our sample. Patients with PAS manifested DM1 and AITD at a younger age than children with monoglandular pathology (7.7 vs. 9.3 years, p=0.04 and 7.7 vs. 13.1 years, p<0.01). Conclusions This is the first study that analyzes the prevalence of different types of PAS in a pediatric population followed by endocrine pathologies, namely DM1, AD, and AITD. As PAS manifestations are often preceded by a long latency period characterized by the presence of autoantibodies, we reinforce the need to value these markers for timely diagnosis and to screen PAS in patients with AD throughout their lives.
      原文链接:
    • NSTL
    • Walter De Gruyter

    Serum kisspeptin, leptin, neuropeptide Y, and neurokinin B levels in adolescents with polycystic ovary syndrome

    Guzelkas, IsmailOrbak, ZerrinDoneray, HakanOzturk, Nurinnisa...
    7页
    查看更多>>摘要：Objectives Polycystic ovary syndrome (PCOS) is characterized by ovarian dysfunction, clinical and/or biochemical hyperandrogenism, and polycystic ovaries. Its pathogenesis is still unclear. This study aimed to investigate the relationship between kisspeptin, leptin, neuropeptide Y (NPY), and neurokinin B (NKB) levels for evaluating the pathogenesis of PCOS. Methods Levels of these parameters were analyzed in 20 patients with PCOS, and 16 healthy adolescents. Results Serum NPY levels were significantly higher in the obese and non-obese PCOS group (p<0.01). There was a negative correlation between the kisspeptin and the NKB levels (p<0.01) in the PCOS group but not in the control group. This negative correlation was also found in both PCOS groups (p<0.01). In the obese PCOS group, serum kisspeptin levels were significantly lower than the control and non-obese PCOS groups (p<0.05) although serum leptin and NPY levels were significantly higher in the obese PCOS group (p<0.01). Conclusions The high NPY levels in both obese and non-obese patients with PCOS indicate that NPY plays a role in the pathogenesis independently from obesity. Significantly high leptin and low kisspeptin levels in the obese PCOS group suggested that they may be associated with obesity rather than PCOS.
      原文链接:
    • NSTL
    • Walter De Gruyter

    Ultrasonographic measurements of the testicular volume in Turkish boys aged 0-8 years and comparison with international references

    Colak, EdisOzkan, Behzat
    7页
    查看更多>>摘要：Objectives Proper diagnosis and follow-up of children with testicular disorders depend on the presence of adequate references for testicular volume. The objective of this study was to determine the testicular volume by ultrasound in Turkish boys aged between 0 and 8 years. Methods A total of 320 boys with bilaterally descended testes underwent scrotal ultrasound examinations. The testicular volume (mL) was calculated by the empirical formula of Lambert (V=L x T x AP x 0.71) and the formula for an ellipsoid (V=L x T x AP x pi/6). The testicular volume was compared with children's age, and Z-score data for weight, height, and BMI. The age-specific 3rd, 10th, 25th, 50th, 75th, 90th, and 97th percentiles of the testicular volume were produced and compared with the international references. Results The median (IQR) volume of the right and left testis were 0.75 (0.57-0.99) and 0.72 (0.56-0.98) mL (formula of Lambert), respectively; and 0.56 (0.42-0.73) and 0.53 (0.41-0.72) mL, (formula for an ellipsoid), respectively. The age-specific median of the average volume of the right and left testis estimated by the Lambert equation in the first five years was measured between 0.63 and 0.71 mL, followed by an increase to about 1.31 mL at the age of 8. This increase was highly statistically significant (p<0.0001). No significant association was found between the Z-scores for weight, height, and BMI of boys and the testicular volumes. Conclusions This study provides the first national ultrasound-based estimates for testicular volume in Turkish boys aged 0-8 years.
      原文链接:
    • NSTL
    • Walter De Gruyter

    Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1

    Cengiz, BasakKilic, AyseOzsaydi, EkinInci, Asli...
    7页
    查看更多>>摘要：Objectives Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by FBP1, and the enzyme catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose 6-phosphate. Patients with recurrent episodes of metabolic acidosis, hypoglycemia, hypertriglyceridemia, and hyperketonemia are present. Methods In this study, we describe the clinical, biochemical, and molecular genetic features of six unrelated Turkish patients from six different families who were genetically diagnosed with FBPase deficiency in our clinic between 2008 and 2020. Their clinical and laboratory data were collected retrospectively. Next-generation sequencing (NGS) was performed for the molecular genetic analysis. Results All patients were hospitalized with recurrent hypoglycemia and metabolic acidosis episodes. Three out of six patients were presented in the neonatal period. The mean age at diagnosis was 26 months. NGS revealed a known homozygous gross deletion including exon 2 in three patients (50%), a known homozygous c.910_911dupTT pathogenic variant in one patient (16%), a novel homozygous c.651_653delCAGinsTAA likely pathogenic variant, and another novel homozygous c.705+5G>A splice site variant. Leukocyte FBPase analysis detected no enzyme activity in the patient with homozygous c.705+5G>A splice site variant. Conclusions We identified two novel mutations in this study. One of them is a splice site mutation which is five bases downstream of the exon, and the other one is an indel mutation. Both of the splice site and indel mutations are exceedingly rare in FBP1, and to the best of our knowledge, there are second splice site and indel variants reported in the literature. Exon 2 deletion is the most common mutation consistent with the previous reports in Turkish patients. FBPase is a frequent cause of hypoglycemia and metabolic acidosis, and the widespread use of molecular genetic analysis would contribute to the enlightenment of advanced genetic factors and possible genotype/phenotype correlation.
      原文链接:
    • NSTL
    • Walter De Gruyter