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BACKGROUND: DICER1, a cancer predisposition syndrome (CPS), seems to escape timely diagnosis in pediatric patients. Case report 1: A 16-year-old female patient was referred to the endocrinology ward due to a large goiter. Her medical history indicated normal sexual maturation, with menarche occurring at 13.5 years. Over the past 2.5 years, she had developed pronounced androgenic symptoms, including a deepened male voice; facial, back, and neckline acne; hirsutism; and menstrual irregularities leading to secondary amenorrhea. A thyroid ultrasound identified a multinodular goiter (MNG) with cystic-solid lesions containing calcifications. An abdominal ultrasound identified a 5.7 × 6.9 cm solid mass in the right adnexal region, displacing the uterus to the left. Histopathological examination confirmed a Sertoli-Leydig cell tumor. The patient was subjected to a total thyroidectomy. Histopathology revealed benign follicular cell-derived neoplasms. Thyroid follicular nodular disease (TFND) was diagnosed bilaterally. DNA analysis using NGS, confirmed via the Sanger method, revealed a pathogenic heterozygotic variant c.2953C>T [p.Gln985*] in exon 18 of the DICER1 gene. Case report 2: A 12-year-old male patient was admitted to the pediatric surgery unit due to a 33 mL goiter. A month prior to his admission, the patient discovered a palpable nodule in his neck, accompanied by hoarseness. An ultrasound revealed MNG. Molecular analysis revealed a pathogenic heterozygotic variant c.2782C>T [p.Gln928*] in exon 17 of the DICER1 gene. Subsequently, a total thyroidectomy was performed, and histopathological examination revealed TFND bilaterally. CONCLUSIONS: Recent advances in genetic evaluation and in histological approaches indicate that MNG/TFND, although rare in the pediatric population, when accompanied by characteristic ultrasound and histopathological features, and by additional features such as androgenization, may warrant assessment also of the DICER1 gene within CPS molecular panel screening.
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Objective: Disorders of glucose metabolism in children with obesity are less common than in adults. There is also evidence that they may be transient. The aim of this study was to determine the prevalence of impaired fasting glucose (IFG), impaired glucose tolerance (IGT), type 2 diabetes mellitus (DM2) and its reversibility in pediatric patients with obesity and to define the factors determining the reversibility of prediabetes or progression to diabetes. Methods: Retrospective analysis included 573 patients with obesity (mean BMI Z-score 4.4, 316 girls at mean age 13.5 years old, range 2.9-17.11, all Caucasians). Results: The normal results of OGTT were present in 90.8 % (n=520) and prediabetes in 9.2% (n=53) (IFG 17%, IGT 88.7%, DM 0%) subjects. Among those who underwent OGTT twice, impaired glucose regulation was present in 9.3% subjects (n=5) (IFG 40%, IGT 80%, DM 0%) at baseline and in 14.8% subject (n=8) (IFG 25%, IGT 50%, DM 25%) at follow-up after lifestyle modification only. After 12-36 months of follow up, in the previous presence of IGT, 60% reverted to NGT, 20% persisted as IFG and 20% as IGT and no one progressed to DM. The risk factors for progression of glucose metabolism disorders were increase of BMI Z-score, and higher insulin levels, and HOMA-IR. Conclusions: IFG and IGT are common in pediatric patients with obesity, while the progression to DM2 is a rare condition. Disorders of glucose metabolism disorders have reversible character. Every change of BMI Z-score has a significant impact on changes of glucose levels.
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The most commonly identified genetic cause of combined pituitary hormone deficiency (CPHD) is PROP1 gene mutations. The aim of the study was to compare selected clinical features of patients with CPHD caused by variants of the PROP1 gene (CPHD-PROP1) and patients with inborn CPHD of other etiology (CPHD-nonPROP1). MATERIAL AND METHODS: The retrospective analysis included childhood medical records of 74 patients (32 female) with CPHD, including 43 patients (23 female) with the mutation in the PROP1 gene. RESULTS: Patients with CPHD-PROP1 compared to the CPHD-nonPROP1 presented with the following: significantly higher median birth weight (0.21 vs. - 0.29 SDS, p = 0.019), lower growth velocity within 3 years preceding growth hormone administration (- 2.7 vs. - 0.8 SDS, p < 0.001), higher mean maximal blood concentration of growth hormone within the stimulation process (1.2 vs. 1.08 ng/mL, p = 0.003), lower TSH (1.8 vs. 2.4 µIU/mL, p < 0.001), significantly lower prolactin concentrations (128 vs. 416.3 µIU/mL, p < 0.001), and less frequent typical signs of hypogonadism at birth in boys (n = 6; 30% vs. n = 12, 54%, p < 0.001). Secondary adrenal insufficiency was less frequent in CPHD-PROP1 (20 vs. 25 cases, p = 0.006) and occurred at a later age (13.4 vs. 10.4 years). MRI of the pituitary gland in CPHD-PROP1 revealed a small pituitary gland (21 cases), pituitary gland enlargement (eight cases), and one pituitary stalk interruption and posterior lobe ectopy, while it was normal in nine cases. CONCLUSION: Patients with the PROP1 mutations present a clinical picture significantly different from that of other forms of congenital hypopituitarism. Certain specific clinical results may lead to the successful identification of children requiring diagnostics for the PROP1 gene mutation.
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Proteínas de Homeodomínio , Hipopituitarismo , Criança , Feminino , Humanos , Recém-Nascido , Masculino , Hormônio do Crescimento/genética , Proteínas de Homeodomínio/genética , Hipopituitarismo/diagnóstico , Mutação , Estudos RetrospectivosRESUMO
BACKGROUND: There is an increased risk for childhood type 1 diabetes (T1D) when T1D and type 2 diabetes (T2D) are reported in relatives. OBJECTIVES: Our objective was to evaluate current family risk factors for T1D development before implementing a national screening program for T1D. MATERIAL AND METHODS: A population of 879 Caucasian children and adolescents with T1D and 286 healthy controls were enrolled in the study. All participants completed the same questionnaire, which collected information about family history of diabetes over 3 generations. In statistical analyses, frequency tables and χ2 tests evaluated possible multicollinearity among risk factors that were significantly associated with the outcomes. RESULTS: Family history of diabetes was more frequent in controls (n = 75, 26.2%) than in patients with T1D (n = 146, 16.6%, odds ratio (OR) = 1.785, 95% confidence interval (95% CI): 1.299-2.452, degrees of freedom (df) = 12.976, p = 0.004), especially with a family history of T2D (n = 62, 21.7% compared to n = 79, 9.0%, respectively, OR = 2.803, 95% CI: 1.948-4.034, df = 32.669, p < 0.001). Also, there was a tendency for the nuclear family of T1D patients to be more frequently affected by T1D (n = 74, 8.4%) than the controls (n = 15, 5.2%, OR = 1.605, 95% CI: 0.937-2.751, df = 3.081, p = 0.079). The risk of T1D was associated with the closest family members being affected and accelerated over generations. Indeed, it was highest in siblings, especially brothers (OR = 12.985, 95% CI: 0.782-215.743, Fisher's test: p < 0.001). A positive family history of T2D burden among second-degree relatives was 2.728 times more frequent in the control group than in the T1D group (OR = 2.728; 95% Cl: 1.880-3.962, p < 0.001). Furthermore, a positive family history of T1D among first-degree relatives was less frequent in the controls than in the T1D group (OR = 0.124; 95% Cl: 0.030-0.516, p = 0.004). CONCLUSIONS: A family history of T1D, but not T2D, is a significant risk factor for T1D development. Indeed, the priority in screening for T1D should be given to first-degree relatives of T1D patients, starting from siblings.
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Background: Papillary thyroid carcinoma (PTC) often coincides with autoimmune thyroiditis (AIT); whether this association is incidental or causal remains debated. Objective: To evaluate the ultrasonographic, laboratory, and histopathological features of PTC in paediatric patients with and without AIT and its relationship to puberty. Design: A retrospective cohort study. Patients and methods: A retrospective analysis of medical records of 90 patients (69; 76.7% females). The mean age at PTC diagnosis was 13.8 years [range 6-18]. All patients were evaluated ultrasonographically before thyroid surgery. Thyroid nodules were categorised using the European Thyroid Imaging Reporting and Data System (EU-TIRADS PL), and cytopathology was assessed using Bethesda criteria. Neck ultrasound results and thyroid and autoimmune status were correlated with histopathological PTC assessment. Results: The coexistence of PTC and AIT was found in 48.9% (44/90) of patients. The percentage of AIT was increasing with age; AIT was present only in 1/3 of prepubertal, close to 50% in pubertal, and over 60% in adolescent patients. The youngest patients (aged <10 years old) presented more often with goitre and lymphadenopathy and less often with AIT than adolescents (15-18 years of age). There were no differences in TPOAb, TgAb, and TSH levels between the age subgroups. Presurgical TgAb levels were higher than those of TPOAb in the youngest patients. Histopathological analysis revealed that the solid subtype was observed more often in prepubertal children and diffuse sclerosing in children below 14 years of age, whereas the classic subtype dominated in late pubertal. Univariate and multivariate analyses revealed that lymph nodes metastases (LNM) were associated with PTC diameter and fT4 level, whereas extrathyroidal extension with age and angioinvasion with PTC diameter and age. The correlations between age and fibrosis, and the presence of psammoma bodies in malignant tissues were close to significant. We did not observe an association between TSH levels and the presence of autoimmunity and PTC variables. Conclusions: In paediatric patients the natural course of PTC may be less aggressive in adolescent patients than in younger children (especially < 10 years of age). We suggest that pre-operative evaluation of paediatric patients with thyroid nodules could include apart from assessment of thyroid hormones, evaluation of TPOAb, TgAb, and TRAb together with comprehensive neck ultrasonography.
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Carcinoma Papilar , Doença de Hashimoto , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Tireoidite Autoimune , Feminino , Adolescente , Humanos , Criança , Masculino , Câncer Papilífero da Tireoide/diagnóstico , Câncer Papilífero da Tireoide/complicações , Estudos Retrospectivos , Nódulo da Glândula Tireoide/complicações , Seguimentos , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/complicações , Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/complicações , Tireoidite Autoimune/complicações , Doença de Hashimoto/complicações , Ultrassonografia/efeitos adversos , TireotropinaRESUMO
Background: Follicular cell-derived thyroid carcinoma represents the vast majority of paediatric thyroid cancers (TCs). Papillary thyroid carcinoma (PTC) accounts for over 90% of all childhood TC cases, and its incidence in paediatric patients is increasing. The objective of this follow-up study was to present the outcome of ultrasound (US) and laboratory monitoring of paediatric patients with autoimmune thyroiditis (AIT) prior to the development of PTC. Patients and methods: This prospective study included 180 children and adolescents (132 females; 73.3%) with a suspicion of thyroid disorder referred to the Outpatient Endocrine Department. The patients were divided into four groups: 1) 28 patients with a mean age of 10.7 [standard deviation (SD), 3.1] y, in whom PTC was detected during the active surveillance of AIT [AIT(+), PTC(+) follow up (F)]; 2) 18 patients with a mean age of 12.8 (SD, 3.4) y, in whom PTC and AIT were detected upon admission (A) [AIT(+), PTC(+) A]; 3) 45 patients with a mean age of 13.0 (SD, 3.4) y, in whom PTC was detected upon admission and AIT was excluded [AIT(-), PTC(+) A]; and 4) an age- and sex-matched control group of 89 patients with AIT and with a mean age of 9.4 (SD, 3.0) y. The analysis included clinical, US, and laboratory assessment results of children on admission (groups 1-4) and during follow-up (groups 1 and 4) in the Paediatric Endocrine Outpatient Department. Results: Upon admission of those in group 1, the US evaluation revealed a hypoechogenic thyroid gland in 12 and an irregular normoechogenic gland in 16 patients. US monitoring revealed an increase in thyroid echogenicity and an increased irregularity of the thyroid structure during the follow-up period of all of the patients from group 1. Such changes were not noticed in group 4. PTC was diagnosed at the mean time of 3.6 y (3 mo-9 y) since AIT confirmation in group 1. The mean maximum PTC diameter as per the US was significantly smaller in group 1 than in groups 2 and 3 [13.2 (10.8) mm vs. 22.2 (12.8) and 22.05 (15.4) mm]. Fewer patients in group 1 were referred to 131I than in groups 2 and 3 (71.4% vs. 94.4 and 93.3%). Interestingly, significant differences were observed in the thyroglobulin antibody (TgAb)/thyroid peroxidase antibody (TPOAb) ratio between groups 2 and 3, as opposed to group 4, at the beginning of observation [15.3 (27.6) and 3.5 (8.8] vs. 0.77 (1.9)]. In group 1, after the follow-up, an increase in the TgAb/TPOAb ratio was observed [1.2 (9.8) to 5.2 (13.5)]. There were no significant differences between groups 1-3 in labeling index Ki67, lymph nodes metastasis, extrathyroidal extension, and angioinvasion. There were no associations between thyroid-stimulating hormone, TgAb, and the extent of the disease. Conclusion: The use of thyroid US focused on the search for developing tumours in the routine follow-up of patients with AIT may not only help in the early detection of thyroid malignancies that are not clinically apparent but may also influence the invasiveness of oncological therapy and reduce the future side effects of 131I therapy. We propose that the repeat evaluation of TPOAb and TgAb warrants further exploration as a strategy to determine TC susceptibility in paediatric patients with AIT in larger multicentre studies.
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Adenocarcinoma Folicular , Doença de Hashimoto , Neoplasias da Glândula Tireoide , Tireoidite Autoimune , Feminino , Adolescente , Humanos , Criança , Tireoidite Autoimune/complicações , Seguimentos , Radioisótopos do Iodo , Câncer Papilífero da Tireoide/diagnóstico por imagem , Câncer Papilífero da Tireoide/complicações , Estudos Prospectivos , Neoplasias da Glândula Tireoide/patologia , Doença de Hashimoto/complicações , Ultrassonografia/efeitos adversosRESUMO
Puberty is a complex process leading to physical, sexual, and psychosocial maturation. The changes in morphology and organ function during puberty also affect blood pressure (BP) regulation, and as a consequence (BP) values change noticeably, reaching values often higher than after reaching full maturity. In children entering puberty, BP, especially systolic, increases and then reaches adult values by the end of puberty. The mechanisms responsible for this process are complex and not fully understood. Sex hormones, growth hormone, insulin-like growth factor-1, and insulin, whose production increases during puberty, significantly regulate BP through complex and overlapping mechanisms. During puberty, the incidence of arterial hypertension also increases, especially in children with excess body weight. The present paper presents the current state of knowledge regarding the influence of processes occurring during puberty on blood pressure.
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Hipertensão , Criança , Adulto , Humanos , Pressão Sanguínea/fisiologia , Índice de Massa Corporal , Puberdade/fisiologia , Hormônios Esteroides GonadaisRESUMO
AIMS: Study aims: (1) developing and validating a novel questionnaire for measuring fear of hyperglycaemia among parents of children with type 1 diabetes (T1D) - the Hyperglycaemia Fear Survey - Parent version (FoHyper-P); (2) investigating correlations between parental fear of hyperglycaemia and objective measures of glycaemic control. METHODS: A multi-centre, multinational study of 152 parents of children with T1D was conducted in three large diabetes clinics from Israel, Poland, and Greece. Inclusion criteria were parents of children aged 6-16 years, at least 6 months from diagnosis, at least 3 months of CGM use and parental involvement in care. Parents filled the FoHyper-P and the Hypoglycaemia Fear Survey - Parent Version (HFS-P). Patient data were obtained via electronic medical records and informative questionnaires. Bonferroni correction was performed to counteract multiple comparisons. RESULTS: Significant strong-moderate correlations were found between FoHyper-P and HFS-P including total questionnaires scoring (r = 0.747, pBonf < 0.001), worries subscales (r = 0.735, pBonf <0.001), and behaviour subscales (r = 0.532, pBonf <0.001). Using linear regression models, we found a positive association between the worry subscale and HbA1C. Weak correlations (p < 0.05, not significant after Bonferroni correction) were found between time in range, time above range and parental fear of hyperglycaemia as well as between worry subscales and a higher HbA1C in the past year, percent of hyperglycaemia and lower TIR. CONCLUSIONS: The FoHyper-P is a novel, validated tool for assessing parental fear of hyperglycaemia. Integrating it into clinical practice addresses an underestimated aspect of parental diabetes management, enabling better care for children with T1D.
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Diabetes Mellitus Tipo 1 , Hiperglicemia , Hipoglicemia , Criança , Humanos , Hiperglicemia/prevenção & controle , Hemoglobinas Glicadas , Medo , Hipoglicemia/prevenção & controle , PaisRESUMO
To present the results of testicular ultrasonography supported by clinical and hormonal aspects in paediatric patients with Klinefelter syndrome (KS). Prospective analysis of medical files of 20 patients diagnosed with KS between 2016 and 2022. Assessed data included analysis of causes of referral, ultrasound, and clinical characterisation with hormonal evaluation of serum FSH, LH, testosterone, inhibin B, and anti-Müllerian hormone. Non-mosaic Klinefelter syndrome (47, XXY) was diagnosed in 65% of cases (13/20) by the geneticist (including 7 cases prenatally), in 25% (5/20) by the endocrinologist and in 10% (2/20) by the hematologist. Ultrasound assessment revealed bilateral testicular microlithiasis (TM) in all patients. The youngest KS patient with TM was 3 months old. TM patterns have not changed during follow-ups of up to 6 years in any of the patients. In all KS patients markedly reduced echogenicity and in pubertal KS patients, also irregular echostructure of the testes was observed. The hormonal patterns observed in the study group were typical for those already described in KS. Sertoli and Leydig cell function was intact in prepubertal patients and deteriorated after the start of puberty. CONCLUSION: Although the degenerative process in the testicular tissue starts very early in the testes in KS and is reflected in morphological changes seen in ultrasonography, Sertoli and Leydig cell hormonal function is normal in prepubertal KS patients. WHAT IS KNOWN: ⢠So far, normal Leydig and Sertoli cell function was observed in infants and prepubertal KS patients. WHAT IS NEW: ⢠The morphological changes in the testes in KS may already be seen in early infancy.
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Síndrome de Klinefelter , Doenças Testiculares , Masculino , Humanos , Lactente , Criança , Adolescente , Testículo/diagnóstico por imagem , Testículo/química , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Doenças Testiculares/complicações , Doenças Testiculares/diagnóstico por imagem , Células Intersticiais do Testículo/química , Testosterona/análiseRESUMO
Objective: This study aimed to present the spectrum of thyroid dysfunction, including hormonal and ultrasound aspects, in a cohort of paediatric and adult patients diagnosed with inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders 2 and 3 (iPPSD). Methods: The medical records of 31 patients from 14 families diagnosed with iPPSD between 1980 and 2021 in a single tertiary unit were retrospectively analysed. Biochemical, hormonal, molecular, and ultrasonographic parameters were assessed. Results: In total, 28 patients from 13 families were diagnosed with iPPSD2 (previously pseudohypoparathyroidism [PHP], PHP1A, and pseudo-PHP) at a mean age of 12.2 years (ranging from infancy to 48 years), and three patients from one family were diagnosed with iPPSD3 (PHP1B). Thyroid dysfunction was diagnosed in 21 of the 28 (75%) patients with iPPSD2. Neonatal screening detected congenital hypothyroidism (CH) in 4 of the 20 (20%) newborns. The spectrum of thyroid dysfunction included: CH, 3/21 (14.2%); CH and autoimmune thyroiditis with nodular goitre, 1/21 (4.8%); subclinical hypothyroidism, 10/21 (47.6%); subclinical hypothyroidism and nodular goitre, 1/21 (4.8%); primary hypothyroidism, 4/21 (19%); and autoimmune thyroiditis (Hashimoto and Graves' disease), 2/21 (9.6%). Thyroid function was normal in 7 of the 28 (25%) patients with iPPSD2 and in all patients with iPPSD3. Ultrasound evaluation of the thyroid gland revealed markedly inhomogeneous echogenicity and structure in all patients with thyroid dysfunction. Goitre was found in three patients. Conclusion: The spectrum of thyroid dysfunction in iPPSD ranges from CH to autoimmune thyroiditis and nodular goitre. Ultrasonography of the thyroid gland may reveal an abnormal thyroid parenchyma.
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Hipotireoidismo Congênito , Bócio Nodular , Doença de Graves , Pseudo-Hipoparatireoidismo , Doenças da Glândula Tireoide , Tireoidite Autoimune , Adulto , Criança , Hipotireoidismo Congênito/diagnóstico , Doença de Graves/diagnóstico , Humanos , Recém-Nascido , Hormônio Paratireóideo , Proteína Relacionada ao Hormônio Paratireóideo , Pseudo-Hipoparatireoidismo/diagnóstico , Estudos Retrospectivos , Doenças da Glândula Tireoide/diagnóstico por imagem , UltrassonografiaRESUMO
Obesity is a chronic disease, that in adolescents may lead to serious consequences affecting somatic and mental health. This study aimed to assess the prevalence of depressive symptoms and anxiety in adolescents with obesity and their parents. The relationships between depressive and anxiety symptoms and the somatic consequences of obesity were also analyzed. Material and Methods: 19 patients with obesity (BMI Z-SCORE 2.1-5.5), at the age 16-17, and their parents answered validated questionnaires (Children's Depression Inventory 2, The State-Trait Anxiety Inventory), and a survey assessing everyday functioning. Results: There were no significant differences in the occurrence of symptoms of depression in children and their parents: for the overall scale score of T-score (p=0.331), for the emotional problems (p=0.281) subscale, and the functional problems (p=0.147) subscale. The comparison of the results between boys and girls revealed no significant differences. A significantly higher level of anxiety was found in parents of children who gained weight in the year preceding the study (p = 0.046), and both in children and parents of children with metabolic-associated fatty liver disease - MAFLD (p=0.022 and p=0.007). According to adolescents, obesity affects the most leisure activities. Conclusion: Obesity, like any chronic disease, can have a significant impact on the emotional state of children and adolescents as well as the possibility of realizing interests and spending free time. Much more important than depressive disorders are anxiety disorders concerning both patients and their parents.
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Obesidade Infantil , Criança , Adolescente , Masculino , Feminino , Humanos , Projetos Piloto , Obesidade Infantil/complicações , Obesidade Infantil/epidemiologia , Ansiedade/epidemiologia , Ansiedade/etiologia , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/etiologia , Pais , Doença CrônicaRESUMO
OBJECTIVES: Coexistence of arterial hypertension (AH) in children with obesity increases morbidity and shortens life. Its role as an indicator of coexisting metabolic complications is however less known. The objective of the study was to compare metabolic profiles of children with obesity and with or without AH. METHODS: We included patients aged 10-18 with the BMI Z-score ≥2. Diagnosis of AH was based on the European Society of Hypertension criteria (2016). Metabolic profiles were assessed by glucose and insulin levels taken before and after glucose load, fasting levels of triglycerides (TG), total (TC), low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol, and HOMA-IR. RESULTS: Of 534 patients, 33.5% were diagnosed with AH. The AH patients, as compared to non-AH, had higher fasting insulin levels (22 vs. 19.7 mIU/L, p=0.04), HOMA-IR (4.5 vs. 4.0, p=0.029), and post-load glucose level (6.3 vs. 5.7, p=0.000041). No differences in the post-load insulin levels (113 vs. 100 mIU/L, p=0.056), fasting glucose (4.5 vs. 4.5 mmol/L, p=0.5), or lipids were found (TC: 4.4 vs. 4.4 mmol/L, p=0.9; LDL: 2.7 vs. 2.7, p=0.2; TG: 1.4 vs. 1.4 mmol/L, p=0.5; HDL: 1.1 vs. 1.2, p=0.3. CONCLUSIONS: Concomitance of AH in children with obesity may be an indicator of coexisting metabolic complications.
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Hipertensão , Resistência à Insulina , Insulinas , Glicemia/metabolismo , Índice de Massa Corporal , Criança , HDL-Colesterol , Glucose , Humanos , Hipertensão/complicações , Obesidade/complicações , Obesidade/metabolismo , TriglicerídeosRESUMO
Objective: Oncologic treatment can affect the adrenal glands, which in stressful situations may lead to life threatening adrenal crisis. The aim of the study was to assess adrenal function in pediatric acute lymphoblastic leukemia (ALL) survivors and to identify the best markers for this assessment. Methods: Forty-three ALL survivors, mean age 8.5±3.6 years and 45 age and sex-matched healthy controls were recruited to the study. ALL patients were assessed once within five years following oncological treatment completion. Fasting blood samples were collected from all participants to measure: fasting blood glucose (FBG); cortisol; aldosterone; plasma renin activity (PRA); dehydroepiandrostendione-sulfate (DHEA-S); and adrenocorticotropic hormone (ACTH). Moreover, diurnal profile of cortisol levels and 24-hour urinary free cortisol (UFC) were assessed. ALL survivors underwent a test with 1 ug of synthetic ACTH. Results: The study revealed lower level of PRA (1.94±0.98 ng/mL/h vs 3.61±4.85 ng/mL/h, p=0.029) and higher FBG (4.6±0.38 mmol/L vs 4.41±0.39 mmol/L, p=0.018) in the ALL group compared to controls. UFC correlated with evening cortisol (p=0.015, r=0.26), midnight cortisol (p=0.002, r=0.33), and DHEA-S (p=0.004, r=0.32). UFC also correlated with systolic and diastolic blood pressure (p=0.033, r=0.23 and p=0.005, r=0.31, respectively). The ACTH test confirmed impaired adrenal function in 4/43 ALL survivors (9%). Two of the patients who needed permanent hydrocortisone replacement had low UFC, midnight cortisol and DHEA-S levels. Conclusion: These results highlight the importance of reviewing adrenal gland functionality after chemo/radiotherapy in ALL survivors. DHEA-S proved to be a good marker to assess the adrenal glands after oncological therapy. Post-treatment disturbances of the adrenal axis could be associated with metabolic complications.
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Sistema Hipófise-Suprarrenal , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Criança , Pré-Escolar , Sistema Hipófise-Suprarrenal/metabolismo , Sistema Hipotálamo-Hipofisário/metabolismo , Hidrocortisona , Hormônio Adrenocorticotrópico , Desidroepiandrosterona/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapiaRESUMO
BACKGROUND: Few studies indicate the occurrence of abnormal nocturnal dipping of blood pressure (BP) in 35-50% of children and adolescents with obesity. The relation between that phenomenon and metabolic complications of obesity remains unclear. To evaluate the association between disorders of glucose and lipid metabolism, and nocturnal non-dipping in pediatric patients with obesity. METHODS: In 207 children (53.14% girls, mean age 14 (range 2-17), mean BMI Z-SCORE 4.38, range 2.07-10.74) standard 24-h Ambulatory Blood Pressure Monitoring was performed. Normal dipping was defined as a ≥ 10% decline in BP during the night. RESULTS: There were 106 (51.21%) cases of non-dippers. The mean 24-h nocturnal systolic BP (SBP) reduction (%) was 9.9 ± 5.5. The mean 24-h nocturnal diastolic BP (DBP) reduction (%) was 15.8 ± 8.5. There was a significant correlation between BMI Z-SCORE and mean day-time SBP (r = 0.14 P = .042). There are positive correlations between 24-h heart rate (beats/min) and BMI Z-SCORE (r = 0.15, P = .027), between fasting glucose and systolic BP Z-SCORE (r = 0.17, P = .03) and between mean diastolic BP and LDL cholesterol (r = 0.23, P = .004). Total cholesterol level was significantly higher in non-dippers (4.34 vs. 3.99 mmol/L, P = .034). There were no significant differences between non-dippers and dippers regarding fasting glucose (4.6 vs. 4.8 mmol/L), 120'post load glucose (5.7 vs. 5.9 mmol/L), insulin (19 vs. 20.2 µIU/mL), HOMA-IR (2.36 vs. 2.44), LDL cholesterol (2.64 vs. 2.51 mmol/L), HDL cholesterol (1.06 vs. 1.03 mmol/L) or triglycerides (1.36 vs. 1.34 mmol/L) levels. CONCLUSION: Nocturnal non-dipping is frequent in pediatric patients with obesity. It is associated with higher total cholesterol levels.
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Hipertensão , Obesidade Infantil , Adolescente , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Criança , Colesterol , Ritmo Circadiano , Feminino , Humanos , MasculinoRESUMO
INTRODUCTION: The influence of growth hormone (GH) treatment on amino acids (AAs) profile in patients with Turner syndrome (TS) was investigated. MATERIAL AND METHODS: The study group included girls with TS: treated with GH (GH+) and girls with no GH treatment (GH-). The control group consisted of healthy girls. Free plasma AAs were measured by the LC/MS/MS. RESULTS: The plasma concentrations of glutamine, threonine were significantly higher in group GH+ than in group GH- (p < 0.05). In group GH- the values of glutamine, alanine, isoleucine, glutamic acid were significantly different than in the control (p < 0.05-p < 0.008). CONCLUSION: AAs profile in girls with TS might be characteristic for the disease but also depends on GH treatment.
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Aminoácidos/metabolismo , Hormônio do Crescimento Humano/uso terapêutico , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/metabolismo , Adolescente , Estudos de Casos e Controles , Criança , Feminino , HumanosRESUMO
BACKGROUND: Home isolation during the coronavirus 2019 (COVID-19) pandemic lockdown strongly impacted everyday life, affecting, in particular, eating habits and everyday activity. The aim of this study was to analyze the impact of the pandemic on behaviors and subsequent changes in body mass index (BMI) in children from Southern Poland. METHODS: The study included 206 participants (104 females and 102 males) with a complete analysis of 177 participants (96 females and 81 males) with a mean age of 12.8 ± 2.6 years admitted to three pediatric endocrinology clinics (Rzeszów, Kraków, and Katowice) due to simple obesity, type 1 diabetes mellitus, somatotropin pituitary deficiency on growth hormone replacement therapy, and other endocrine and metabolic disorders between June and September 2020. The study used a self-prepared questionnaire regarding eating habits, physical activity, screen time, and sleep before and during the lockdown. Anthropometric measurements were performed under clinical settings twice (before the pandemic in January-March 2020, and in June-September 2020). RESULTS: During the lockdown, BMI z-scores increased over the whole group, especially in obese children (0.073 ± 0.18, p = 0.002). The number of children who declared low and high physical activity of more than 60 min per day declined from 41.2% and 18.6% to 31.1% and 6.2% (p = 0.03 and p < 0.001), respectively; sleep times over 8 h increased (46.9% vs. 60.4% p = 0.007); screen times over 5 h daily increased (14.7% to 46.9%, p < 0.001). Eating habits did not change significantly. CONCLUSIONS: Daily physical activity and sleep levels were affected by the pandemic leading to the increase of BMI, especially in obese patients with endocrine disorders. During the COVID-19 pandemic, forward-thinking strategies must be developed to prevent childhood obesity.
Assuntos
Índice de Massa Corporal , COVID-19/prevenção & controle , Dieta/métodos , Doenças do Sistema Endócrino/epidemiologia , Estilo de Vida , Obesidade Infantil/epidemiologia , Isolamento Social , Adolescente , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Masculino , Pandemias , Polônia/epidemiologia , SARS-CoV-2 , Inquéritos e QuestionáriosRESUMO
Background Elevated chemerin level is observed in patients with arterial hypertension. The aim of the study was to determine the relationship between chemerin level, and parameters of blood pressure and arterial stiffness in children and adolescents with obesity but without arterial hypertension. Methods In 23 children with obesity (13 girls, mean age 9.3, SD 1.9, mean BMI SDS 3.9, SD 1.7) 24 h ABPM (Spacelabs 90,217, USA), common carotids and abdominal aorta intima media thickness measurements (Voluson 730, GE Medical System 8.5 and 3.5 MHz probes), body composition analysis (Tanita BC 418 S MA, Tokyo, Japan) were performed. Glucose, triglycerides, total, LDL and HDL cholesterol, liver enzymes, uric acid, creatinine, sodium, insulin and chemerin levels were assessed in blood sample taken after a 12-h fasting period. Results There was a significant correlation of circulating chemerin level with systolic blood pressure load in ABPM (r=0.5, p<0.05). Conclusion Elevated chemerin level may be associated with increased systolic blood pressure in obese children.
Assuntos
Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/etiologia , Quimiocinas/sangue , Obesidade Infantil/sangue , Adolescente , Idade de Início , Doenças Assintomáticas , Índice de Massa Corporal , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Criança , Feminino , Humanos , Hipertensão/sangue , Hipertensão/complicações , Hipertensão/epidemiologia , Masculino , Obesidade Infantil/complicações , Obesidade Infantil/epidemiologia , Dados Preliminares , Fatores de Risco , Rigidez Vascular/fisiologiaRESUMO
Girls with Turner syndrome (TS) are at increased risk of developing insulin resistance and coronary artery disease as a result of hypertension and obesity frequently seen in these patients. On the other hand, it is known that obesity is associated with increased serum levels of branched-chain amino acids (BCAAs: valine; leucine and isoleucine) and aromatic amino acids. The aim of the study is to compare the metabolic fingerprint of girls with TS to the metabolic fingerprint of girls with obesity. Metabolic fingerprinting using an untargeted metabolomic approach was examined in plasma from 46 girls with TS (study group) and 22 age-matched girls with obesity (control group). The mean values of BCAAs, methionine, phenylalanine, lysine, tryptophan, histidine, tyrosine, alanine and ornithine were significantly lower in the study group than in the control (p from 0.0025 to <0.000001). Strong significant correlation between BCAAs, phenylalanine, arginine, tyrosine, glutamic acid, citrulline and alanine, and body mass index expressed as standard deviation score BMI-SDS in the patients with obesity (p from 0.049 to 0.0005) was found. In contrast; there was no correlation between these amino acids and BMI-SDS in the girls with TS. It is suggested that obesity in patients with TS is not associated with altered amino acids metabolism.