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1.
Neuro Endocrinol Lett ; 43(4): 199-207, 2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-36528881

RESUMO

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare disorder characterized by tumors in various endocrine glands. It is caused by a mutation in the MEN1 gene. This gene encodes menin, a protein that regulates cell proliferation. The clinical manifestation of the syndrome most commonly involves hyperparathyroidism and pancreatic, pituitary gland, and adrenocortical adenomas. Although the first symptoms of the disease usually occur in patients under the age of 20, the data on MEN1 in children is scarce. Here, we report a case study of a familial MEN1 syndrome with a central nervous system ganglioglioma, a manifestation that has not been characterized so far. CASE REPORT: The diagnosis of a 17-year-old boy with hypoglycemia of unknown origin revealed the presence of a pancreatic tumor. As kidney stone disease and acute pancreatitis were reported in his father, and his asymptomatic sister was initially diagnosed with a pancreatic tumor, a familial MEN1 syndrome was suspected. Indeed, a pathogenic mutation within the MEN1 gene was detected. Further diagnosis revealed primary hyperparathyroidism in both children and their father, which is typical of MEN1. The girl also presented with hydrocephalus caused by ganglioglioma of the central nervous system. Surgical treatment was successfully conducted in both children. CONCLUSIONS: The reported family case provides evidence of the diagnostic and therapeutic difficulties related to the MEN1 syndrome. In children, the benefits of an early surgery should be considered in relation to the risks of possible surgical complications and consequences of a loss of endocrine gland function.


Assuntos
Neoplasias Encefálicas , Ganglioglioma , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias Pancreáticas , Pancreatite , Masculino , Feminino , Criança , Humanos , Adolescente , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/genética , Doença Aguda , Ganglioglioma/complicações , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/complicações , Neoplasias Encefálicas/complicações
2.
Front Endocrinol (Lausanne) ; 13: 1034148, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36531483

RESUMO

Introduction: Obesity is considered a civilisation disease which increases mortality and impairs quality of life, also among children and adolescents. The prevalence of overweight and obesity is steadily increasing in the developmental age population. Environmental factors are responsible for the main reason of excessive adipose tissue accumulation. Among these, poor eating habits and lack of exercise play the largest role. Familial prevalence of obesity and family dietary patterns also receive significant attention. Many specialists believe that the treatment of obesity should be multidirectional, effective and minimally invasive. Therefore, effective and safe methods are being investigated to effectively reduce body weight and improve eating habits. Dietary education programmes are an alternative to improve the health status of obese and overweight children and adolescents. To be fully effective, these programmes should involve the whole family. Aim of the study: In the face of constantly increasing prevalence of overweight and obesity in the developmental age population and the lack of effective methods to combat its occurrence, it seems appropriate to try to assess the effectiveness of a one-year-long dietary education of children and adolescents with excess body weight on their eating habits and the eating habits of their mothers, as well as selected anthropometric and biochemical parameters in these children using a simple educational tool, the Healthy Food Pyramid. Patients and methods: The study group consisted of 68 children with overweight and obesity, patients of the Department of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age of the Pomeranian Medical University in Szczecin. The study used a proprietary questionnaire to assess dietary habits. Patients participated in six individual educational meetings over a twelve-month period. Eating habits were assessed in children and mothers before and after dietary intervention. Sixty-seven questionnaires before and after the dietary intervention were used for analysis. Results: Sixty-eight children completed the study. Those who did not complete the study came from families living in rural areas and their mothers mostly had primary or vocational education. One-year dietary education resulted in significant improvements in body weight, waist and hip circumference, WHtR and selected measured carbohydrate and lipid metabolism parameters with the exception of total cholesterol. The one-year dietary intervention did not have the same effect on the change in dietary habits in children and in their mothers.


Assuntos
Sobrepeso , Qualidade de Vida , Adolescente , Humanos , Criança , Sobrepeso/epidemiologia , Comportamento Alimentar , Aumento de Peso , Obesidade/epidemiologia , Peso Corporal
3.
Artigo em Inglês | MEDLINE | ID: mdl-36497979

RESUMO

Childhood obesity remains one of the most serious medical challenges of the 21st century. The aim of the study was to obtain epidemiological data on the prevalence of overweight and obesity among 8- and 9-year-old children in Szczecin, and to evaluate the effectiveness of medical intervention in the form of a year of interdisciplinary work with children with excess body weight. The study consisted of two main stages: I-screening, II-intervention. The program was implemented for three consecutive years, starting in 2016-2018. The entire population of 8-9-year-olds in Szczecin is 11,494 children. In the screening part of the study, 4890 children took part, whose parent agreed to participate (42.54%). In the intervention part of the study, we analyzed a group of 515 children. Children were further divided into subgroups according to the number of visits completed. Anthropometric parameters were measured on each visit. The prevalence of overweight and obesity in the screened population was 16.9% and 6.4%, respectively. Statistically significant changes were observed in BMI (Body Mass Index) percentiles and BMI z-scores, as well as WHR (Waist-Hip Ratio) during the one year observation time. The best effects were achieved by the 3rd visit (for the first 6 months of the program). Thereafter, the effects diminished due to the longer interval between the 3rd and 4th visits (6 months). There is the need for long-term programs for the prevention of excessive body weight in children and adolescents with frequent checkpoints.


Assuntos
Obesidade Infantil , Adolescente , Criança , Humanos , Obesidade Infantil/epidemiologia , Aumento de Peso , Índice de Massa Corporal , Sobrepeso/epidemiologia , Antropometria , Peso Corporal
4.
Neuro Endocrinol Lett ; 43(5): 247-256, 2022 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-36584401

RESUMO

OBJECTIVE: The etiology of type 1 diabetes mellitus (DM1) is not fully understood. Some studies indicate an excess or deficiency of certain trace elements may affect glucose and insulin metabolism. This study aimed to assess the concentrations of trace elements in children with newly diagnosed DM1. The study group comprised 35 children aged 3-17 years (mean, 8.83±3.55 years). Serum concentrations of selenium, zinc, copper, and arsenic were determined at the time of diagnosis, after ~2 weeks (during insulin treatment), and after 6 months. No trace element deficiency was observed. Selenium levels were increased at all time points (77.61±14.03 µg/l; 70.42±11.04 µg/l; 75.79±12.89 µg/l). Arsenic levels were increased at the time of discharge (0.30±0.24 µg/l) and upon 6 months control visit (0.67±1.98 µg/l) for DM1. Copper levels were elevated at the time of diagnosis (1333±244 µg/l). No significant differences were observed in zinc concentrations between study and control group or between time points. Trace elements in the environment, especially selenium, may increase the incidence of DM1, although further research is required to confirm this association.


Assuntos
Arsênio , Diabetes Mellitus Tipo 1 , Insulinas , Selênio , Oligoelementos , Criança , Humanos , Cobre , Diabetes Mellitus Tipo 1/diagnóstico , Zinco
5.
Front Endocrinol (Lausanne) ; 13: 992264, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36387906

RESUMO

Nonalcoholic fatty liver disease (NAFLD) is a growing health problem in the pediatric population, due to the constantly increasing percentage of children with obesity. The objective of the study was to assess the occurrence of NAFLD based on ultrasound (USG) analysis and the use of alanine aminotransferase (ALT) in children with overweight and obesity depending on glucose tolerance. Medical records of 228 consecutive patients aged 2-18 years with overweight and obesity were reviewed retrospectively. Based on the oral glucose tolerance test children were divided into groups according to the severity of carbohydrate metabolism disorders. ALT, lipid parameters and insulin sensitivity indices HOMA, Matsuda and Quicki were analyzed. NAFLD was diagnosed (based on the USG) in 51 patients (23.61%) - the incidence in the impaired glucose tolerance (IGT) and type 2 diabetes (T2DM) group was significantly higher when compared to ones without glucose intolerance. Because of extreme values of metabolic parameters in TDM2 children being outliers, they were not considered in the statistical analysis of the study. 22 (11.58%) patients had elevated ALT values, of which 12 (54.55%) had hepatic steatosis features on ultrasound. 72.73% (n=32) patients with fatty liver features on USG had ALT values considered normal with cut-off point 42 U/l accepted in this study. Almost every fourth obese child in the study group presents features of fatty liver in ultrasound examination. Although ultrasound is not recommended by North American Society For Pediatric Gastroenterology, Hepatology &Nutrition(NASPGHAN) for the diagnosis of NAFLD in children, it allows identifying a high percentage of children with features of fatty liver. This percentage increases significantly in children with glucose intolerance.


Assuntos
Diabetes Mellitus Tipo 2 , Intolerância à Glucose , Hepatopatia Gordurosa não Alcoólica , Humanos , Criança , Hepatopatia Gordurosa não Alcoólica/diagnóstico por imagem , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Sobrepeso , Intolerância à Glucose/epidemiologia , Estudos Retrospectivos , Obesidade/complicações , Obesidade/epidemiologia
6.
Artigo em Inglês | MEDLINE | ID: mdl-36141955

RESUMO

Obesity is regarded as a civilization disease that increases mortality and the risk of cardiovascular complications. In Poland, the prevalence of excess body weight in the paediatric population has been steadily increasing. The consequences of excess body weight in the developmental age population affect children's health and destabilize their development. Appropriate dietary interventions are the main non-invasive methods of preventing and treating obesity. They should be aimed at the whole family, optimally with the use of simple tools such as the Healthy Eating Pyramid. Due to the increasing prevalence of excess body weight in the developmental age population and the problems with the treatment of this condition, studies were undertaken in order to determine the impact of a dietary intervention on anthropometric and biochemical parameters in children with excess body weight. A total of 68 (72.3%) children completed the study. Based on BMI SDS, 59 (86.8%) were diagnosed with obesity and 9 (13.2%) with overweight. After the completion of the one-year dietary educational program, a significant improvement in weight loss, waist and hip circumference, as well as the value of the WHtR index was demonstrated. There was also a significant increase in the percentage of muscle tissue and a decrease in the content of adipose tissue in the bodies of examined children. A significant improvement in the parameters of carbohydrate metabolism, and almost all parameters of lipid metabolism, except for total cholesterol. A significant (by 28.0%) reduction in the incidence of fatty liver was also noted. No influence of dietary education on arterial blood pressure was observed.


Assuntos
Obesidade , Sobrepeso , Antropometria , Índice de Massa Corporal , Peso Corporal/fisiologia , Criança , Colesterol , Humanos , Obesidade/epidemiologia , Sobrepeso/terapia , Aumento de Peso
7.
Pediatr Diabetes ; 23(7): 944-955, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35700323

RESUMO

BACKGROUND: There are several observations that the onset of coronavirus 19 (COVID-19) pandemic was associated with an increase in the incidence of diabetic ketoacidosis (DKA). However, due to heterogeneity in study designs and country-specific healthcare policies, more national-level evidence is needed to provide generalizable conclusions. OBJECTIVE: To compare the rate of DKA in Polish children diagnosed with type 1 diabetes (T1D) between the first year of COVID-19 pandemic (15 March 2020 to 15 March 2021) and the preceding year (15 March 2019 to 15 March 2020). METHODS: Reference centers in 13 regions (covering ~88% of Polish children) retrospectively reported all new-onset T1D cases in children from assessed periods, including DKA status at admission, administered procedures and outcomes. Secondly, we collected regions' demographic characteristics and the daily-reported number of COVID-19-related deaths in each region. RESULTS: We recorded 3062 cases of new-onset T1D (53.3% boys, mean age 9.5 ± 4.3 years old) of which 1347 (44%) had DKA. Comparing pre- and post-COVID-19 period, we observed a significant increase in the rate of DKA (37.5%-49.4%, p < .0001). The fraction of moderate (+5.4%) and severe (+3.4%) DKA cases increased significantly (p = .0089), and more episodes required assisted ventilation (+2.1%, p = .0337). Two episodes of DKA during 2020/2021 period were fatal. By region, change in DKA frequency correlated with initial COVID-19 death toll (March/April 2020) (R = .6, p = .0287) and change in T1D incidence (R = .7, p = .0080). CONCLUSIONS: The clinical picture of new-onset children T1D in Poland deteriorated over a 2-year period. The observed increase in the frequency of DKA and its severity were significantly associated with the overlapping timing of the COVID-19 epidemic.


Assuntos
COVID-19 , Diabetes Mellitus Tipo 1 , Cetoacidose Diabética , Adolescente , COVID-19/complicações , COVID-19/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiologia , Cetoacidose Diabética/complicações , Cetoacidose Diabética/etiologia , Feminino , Humanos , Incidência , Masculino , Pandemias , Polônia/epidemiologia , Estudos Retrospectivos
8.
Pediatr Endocrinol Diabetes Metab ; 27(3): 159-169, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34743501

RESUMO

INTRODUCTION: Obesity is a chronic systemic metabolic disease, which is increasingly prevalent also in children. Obesity carries a risk of numerous complications. The factors that cause excessive weight gain in children are improper eating habits and maternal obesity. The role of mothers manifests mainly in influencing the food preferences of their children. Aim of the study: To analyse the relationship between the selected eating habits of mothers and the eating habits of their children with excess body weight before and after dietary intervention. MATERIAL AND METHODS: The study group consisted of 68 overweight and obese children - patients of our department. The study used the author's questionnaire for assessing eating habits. The eating habits were assessed in children and mothers. RESULTS: After dietary intervention reduction in mean BMI-SDS of 0.80 ±0.96 (p < 0.00001) was observed in children. Before dietary education, there was a significant relationship between mothers' correct habits and children's habits of, e.g., eating breakfast, cereal products drinking water, and consuming milk. Despite the dietary intervention, the influence of negative mothers' habits on the habits of their children was still observed. CONCLUSIONS: The influence of selected correct and incorrect mothers' eating habits on shaping the eating habits of their children with excess body weight before and after dietary intervention was demonstrated. Before and after dietary intervention, this concerned, e.g., the number of eaten meals and the frequency of consuming sweets and fast food. No relationship was found between mother and child in the frequency of consumption of vegetables.


Assuntos
Obesidade Infantil , Índice de Massa Corporal , Peso Corporal , Criança , Comportamento Alimentar , Feminino , Comportamentos Relacionados com a Saúde , Humanos , Gravidez , Inquéritos e Questionários
9.
Pediatr Endocrinol Diabetes Metab ; 26(4): 176-182, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33554491

RESUMO

INTRODUCTION: The increase in morbidity of type 1 diabetes (T1D) is observed in Poland and worldwide, particularly among the youngest patients. To prevent chronic hyperglycemia's complications, it is advised to maintain best possible metabolic control from the time of diagnosis of the disease. AIM: The purpose of this research is to evaluate adherence to medical recommendations in regard to appropriate metabolic control of T1D in children, based on Polish Diabetes Association (PTD) 2019 criteria. MATERIAL AND METHODS: The medical records of 388 patients with T1D hospitalized in our department between June 2018 and July 2019 were analyzed. Two hundred patients hospitalized for routine control tests were enrolled in the study. The patients were evaluated with respect to meeting the criteria for metabolic control recommended by PTD 2019 including gender, duration of disease and treatment technique. The relation between the percentage of HbA1c and age, duration of the disease and lipid metabolism was studied. RESULTS: In the assessed group 7% of patients met all PTD's criteria of metabolic control. There was a statistically significant difference in percentage of HbA1c in serum between girls and boys (12.64% vs. 26.55%, p = 0.02). The trend was observed between patients with T1D lasting less than or equal 3 years and those with long-standing disease (28.72% vs. 13.21%, p = 0.007). A significant, positive correlation was demonstrated between percentage of HbA1c and low-density lipoprotein (LDL) level (r = 0.244), triglyceride (TG) level (r = 0.234) and duration of the disease (r = 0.278). CONCLUSIONS: A low percentage of patients is able to achieve all aims stated by the PTD.


Assuntos
Diabetes Mellitus Tipo 1 , Criança , Diabetes Mellitus Tipo 1/tratamento farmacológico , Feminino , Hemoglobinas Glicadas/análise , Humanos , Masculino , Polônia
10.
Pediatr Endocrinol Diabetes Metab ; 25(4): 202-207, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32270975

RESUMO

INTRODUCTION: Thyroid cancers (TC) are rare diseases in the pediatric population and represents 0.5-3% of all malignant tumors in children. Differenti-ated thyroid cancer (DTC) is a major TC in children. Every patient under 18 years of age diagnosed with a thyroid nodule should under-go a detailed medical examination. The screening test for children with an increased risk for DTC is ultrasound examination of the neck. Both ultrasound and clinical images of a tissue lesion are more important than its size. It should also be emphasized that autoimmune thyroiditis (AIT), a comorbid condition for TC, is increasingly often diagnosed in young patients. Because of the rare incidence of this kind of cancer, we present 3 case studies of patients with papillary thyroid carcinoma, hospitalized in the Department of Pediatrics, En-docrinology, Diabetology, Metabolic Diseases and Cardiology of Developmental Age at Pomeranian Medical University (PMU) in Szczecin.


Assuntos
Câncer Papilífero da Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico , Adolescente , Criança , Feminino , Humanos , Câncer Papilífero da Tireoide/tratamento farmacológico , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/tratamento farmacológico , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidite Autoimune
11.
Neuro Endocrinol Lett ; 40(4): 169-174, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32087092

RESUMO

BACKGROUND: Deletion of the long (q) arm of chromosome 18 causes a rare genetic disease termed 18q- syndrome. This syndrome has varying clinical presentation, depending on the extent of the deletion and the percentage of cells with abnormal chromosomes. One of the most common disorders in children affected by the disease is short stature, usually associated with growth hormone deficiency. Numerous reports on patients with 18q- syndrome show growth hormone treatment has significant therapeutic benefits, not only in terms of final body height but also cognitive functions and psychosocial development. CASE PRESENTATION: Here we describe the case of a 10-year-old girl with 18q- syndrome treated with recombinant human growth hormone from the age of 2. This is the first report of such a patient in Poland. After 8 years of observation, the child showed a clear benefit from recombinant human growth hormone treatment in terms of height and possibly mental development. The girl remains under cardiac care due to congenital heart disease and under neurological care for epilepsy. CONCLUSIONS: This case indicates the need for early diagnosis and multidisciplinary action to achieve satisfactory quality of life in patients with 18q- syndrome.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/tratamento farmacológico , Cromossomos Humanos Par 18 , Hormônio do Crescimento Humano/uso terapêutico , Criança , Feminino , Humanos , Resultado do Tratamento
12.
Endokrynol Pol ; 70(1): 20-27, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30351442

RESUMO

INTRODUCTION: The objective of this study was to analyse the effects of the first three years of treatment with recombinant human insulinlike growth factor 1 (rhIGF-1) in patients from the Polish population. MATERIAL AND METHODS: Twenty-seven children (22 boys and five girls) aged 2.8 to 16.0 years old were qualified for treatment with rhIGF-1 (mecasermin) in different treatment centres, according to Polish criteria: body height below -3.0 SD and IGF-1 concentration below percentile 2.5 with normal growth hormone (GH) levels. Mecasermin initial dose was 40 µg/kg bw twice a day and was subsequently increased to an average of 100 µg/kg bw twice a day. Body height, height velocity, weight, body mass index (BMI), and adverse events were measured. RESULTS: Mecasermin treatment resulted in a statistically significant increase in body height (1.45 ± 1.06 SD; p < 0.01) and height velocity in comparison with pre-treatment values. The biggest change in height velocity happened during the first year and diminished during subsequent years. Body weight and BMI also increased significantly after treatment (1.16 ± 0.76 SD and 0.86 ± 0.75 SD, respectively; p < 0.01). Eight patients reported adverse events. These were mild and temporary and did not require treatment modification except in two patients. CONCLUSIONS: Treatment with rhIGF-1 was effective and safe in Polish patients with primary IGF-1 deficiency. It had a clear beneficial effect on the height of the patients and significantly accelerated the height velocity, particularly in the first year of treatment.


Assuntos
Transtornos do Crescimento/tratamento farmacológico , Perda Auditiva Neurossensorial/tratamento farmacológico , Fator de Crescimento Insulin-Like I/deficiência , Proteínas Recombinantes/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Fator de Crescimento Insulin-Like I/efeitos adversos , Fator de Crescimento Insulin-Like I/uso terapêutico , Masculino , Polônia , Proteínas Recombinantes/efeitos adversos , Resultado do Tratamento
13.
Artigo em Inglês | MEDLINE | ID: mdl-30300427

RESUMO

INTRODUCTION: Increasing incidence of excess weight and poor physical fitness of children validates the need for preventive actions. The Szczecin municipality (gmina Szczecin) runs the "Odwazna ósemka" ("The Brave Eight") program - Prevention of excess weight and obesity in 8 and 9-year-old children attending elementary school in Szczecin, Poland. AIM: The assessment of physical fitness as well as the prevalence and intensity of excess body weight and blood pressure rates among the 8 and 9-year-old children attending elementary school in Szczecin, Poland. MATERIAL AND METHODS: Between 6th December 2016 and 3rd December 2017, 3407 8 and 9-year-old children were examined (1757 girls and 1650 boys). BMI (Body Mass Index) as well as WHR (Waist Hip Ratio) were calculated. All the children were assessed according to criteria established by the International Obesity Task Force (IOTF). The examination included basic anthropometric measurements, such as: body height and weight, waist and hip circumference, blood pressure, body constitution analysis, and physical fitness assessment. RESULTS: Excess body weight was diagnosed in 822 patients, which is 24.1% of the examined population. 369 patients were diagnosed with elevated blood pressure (10.8%). Very poor physical fitness - test abandoned before the completion (HR>180/min), was diagnosed in 151 children (4.5%), very poor physical fitness was diagnosed in 234 children (7%), poor physical fitness was diagnosed in 827 children (24.9%), sufficient physical fitness was diagnosed in 961 children (29.2%), good physical fitness was diagnosed in 650 children (19.5%), very good physical fitness was diagnose in 428 children (12.8%) and excellent in 70 children (2.1%). CONCLUSION: The fact of unsatisfactory physical fitness and excess body weight in children from Szczecin is unsettling. There is ceratainly a need for preventive measures in the broad sense.


Assuntos
Obesidade/epidemiologia , Aptidão Física , Criança , Feminino , Humanos , Masculino , Obesidade/fisiopatologia , Projetos Piloto , Polônia/epidemiologia , Prevalência
14.
Pediatr Diabetes ; 19(1): 53-58, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28436179

RESUMO

BACKGROUND: Estimated monogenic diabetes (MD) prevalence increases as screening programs proceeds. OBJECTIVE: To estimate prevalence of MD among Polish children. SUBJECTS: Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December 2015. METHODS: Nationwide prevalence was estimated based on data from 6 administrative provinces (out of 16 in Poland) with high referral rates of patients (>10 per 100 000 children). RESULTS: During the analysis, probands from 322 of 788 screened families tested positive yielding a total of 409 children and 299 family members with MD. An average of 70 probands/year were referred. Screening success rate reached 40% over the study period. We estimated the prevalence of MD in 2015 to 7.52/100 000 children (1 in 13 000). The most frequent MODY in this group was GCK- MODY (6.88/100 000). The prevalence estimates increased nearly 2-fold since our report in 2011 (4.4/100 000). However, the figure reached a plateau because of screening saturation in 2014 what was also proven by lowering of the median age of diagnosis lowered in time (R = -0.73, P = .0172) along with shortening of the delay between clinical and genetic diagnosis (R = -0.65, P = .0417). CONCLUSIONS: The screening for childhood MD in Poland reached a plateau phase after 10 years showing a stable prevalence estimate. The true frequency of MD in the overall population may be higher given later onset of reportedly more frequent types of MD than GCK -MODY.


Assuntos
Diabetes Mellitus/genética , Criança , Diabetes Mellitus/epidemiologia , Testes Genéticos , Humanos , Polônia/epidemiologia , Prevalência
15.
Pediatr Endocrinol Diabetes Metab ; 23(4): 209-214, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29574474

RESUMO

Thyroid hormone resistance syndrome, also known as Refetoff syndrome, is a rare disease associated with decreased reaction of body tissues to thyroid hormones (TH). Patients with Refetoff syndrome tend to have elevated free TH concentrations and normal or inadequately elevated TSH (caused by thyrotropic cells in the pituitary gland insensitivity to TH). The cause of the disease is the mutation in TR-beta receptor gene. Depending on the clinical presentation generalised and pituitary resistance to TH are described. The syndrome is often misdiagnosed as hyperthyroidism and unnecessarily treated with anti-thyroid drugs. Some patients receive l-thyroxine treatment for apparent hypothyroidism. In this report, three patients are presented with a long history in our Clinic and Outpatient Clinic.


Assuntos
Hipertireoidismo/tratamento farmacológico , Hipotireoidismo/tratamento farmacológico , Hipófise/metabolismo , Síndrome da Resistência aos Hormônios Tireóideos/tratamento farmacológico , Síndrome da Resistência aos Hormônios Tireóideos/fisiopatologia , Hormônios Tireóideos/sangue , Tiroxina/uso terapêutico , Adolescente , Criança , Feminino , Humanos , Masculino , Resultado do Tratamento , Adulto Jovem
16.
Neuro Endocrinol Lett ; 37(4): 282-288, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27857044

RESUMO

OBJECTIVES: The human growth hormone receptor (GHR) exon 3 deletion (d3) polymorphism has been reported to be associated with the responsiveness to growth hormone (GH) therapy. This study aimed to: (a) assess the frequency of this polymorphism in a group of Polish children with idiopathic growth hormone deficiency (IGHD) and (b) analyze their response to GH therapy. METHODS: The study group consisted of 67 prepubertal children with IGHD. The control group was composed of 150 Caucasian newborns from whom umbilical cord blood samples were drawn. A genotype analysis was performed using the PCR multiplex technique in search for the existence or deletion of exon 3 of the GHR gene. RESULTS: In the study group the following genotype distribution was observed: fl/fl-GHR 64.2%; fl/d3-GHR 29.9%; d3/d3-GHR 5.9%. The total percentage of patients with d3-GHR polymorphism was 35.8% and 64.2% patients had a fl/fl-GHR. No significant differences were noted in growth rate SD before introducing therapy and growth rate after one year of recombinant human GH therapy in patients with individual genotypes. In the control group the genotype distribution was: fl/fl-GHR 63.3%; fl/d3-GHR 29.9%; d3/d3-GHR 6.8%. CONCLUSION: No differences were observed in genotype distribution between the study and the control group. Patients with IGHD did not differ among each other depending on their genotype (fl/fl-GHR or fl/d3-GHR) in terms of growth velocity before introducing therapy or growth rate after one year of recombinant human GH therapy.


Assuntos
Transtornos do Crescimento/genética , Hormônio do Crescimento Humano/deficiência , Receptores da Somatotropina/genética , Estudos de Casos e Controles , Criança , Éxons , Feminino , Genótipo , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento/uso terapêutico , Terapia de Reposição Hormonal/métodos , Humanos , Recém-Nascido , Masculino , Polônia , Polimorfismo Genético , Proteínas Recombinantes/uso terapêutico
17.
Ital J Pediatr ; 42: 10, 2016 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-26812928

RESUMO

BACKGROUND: Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation, short stature, joint hypermobility, and delayed psychomotor development. Additionally, Costello syndrome may present with an increased incidence of congenital heart disease, hypertrophic cardiomyopathy, and increased risk of both benign and malignant tumors. Furthermore, cases of patients with endocrine disorders such as adrenal insufficiency and endogenous growth hormone deficiency have also been documented. CASE PRESENTATION: We present a patient with Costello syndrome who has been successfully treated with recombinant human growth hormone (rhGH) for almost 4 years. CONCLUSIONS: The possibility of growth hormone (GH) treatment can be considered in cases of documented GH deficiency in patients with Costello syndrome, but only under close oncologic and cardiologic supervision.


Assuntos
Síndrome de Costello/diagnóstico , Síndrome de Costello/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos
18.
Pediatr Endocrinol Diabetes Metab ; 22(4): 140-147, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-29073296

RESUMO

INTRODUCTION: The assessment of maternal hyperglycemia during pregnancy and lipid profile in the offspring is recently highlighted. AIM: The study was undertaken to assess the selected lipid parameters in children exposed to gestational diabetes (GDM) in utero. MATERIAL AND METHODS: 50 children, 7-15 years of age, exposed to GDM were compared with 46 control subjects (7-16 years old). In all participants anthropometric parameters (height, weight, waist and hip circumferences) and values of total cholesterol, LDL-, HDL-cholesterol and triglycerides (TG) were measured. BMI, waist-to-hip ratio (WHR) and TG to HDL-cholesterol ratio were calculated. RESULTS: The prevalence of overweight/obesity in the study cohort was 38% and 41% in the control (p=0.19). Higher total cholesterol level (p=0.002) and LDL-cholesterol (p=0.007) were found in the study group. In children exposed to GDM significantly higher values of LDL-cholesterol (p=0.02), triglycerides (p=0.02), TG to HDL-cholesterol ratio (p=0.007) and lower HDL-cholesterol (p=0.02) were observed in overweight/obese children compared to slim participants. In the control group, similar results were not noted. In the study group, a positive correlations of TG to HDL-cholesterol ratio and BMI SDS (RS=0.47, p=0.0006), WHR (RS =0.31, p=0.03), SDS of birth weight (RS =0.47, p=0.0006) were found. CONCLUSION: Children exposed to GDM in utero could have a higher risk of dyslipidemia with its cardiovascular complications. Towards observed worse lipid parameters in children with excessive body mass born from pregnancies with GDM, prevention of overweight and obesity in this group seems to be essential.

19.
Neuro Endocrinol Lett ; 36(5): 504-10, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26707052

RESUMO

OBJECTIVES: The study was undertaken to assess the selected carbohydrate parameters in children exposed to gestational diabetes in utero. METHODS: 50 children exposed to gestational diabetes were compared with 46 control subjects. Anthropometric parameters of a newborn were obtained from the medical records. In all participants height, body mass, waist and hip circumferences were measured; BMI, WHR and WHtR were calculated. Values of fasting glucose, insulin, C-peptide and HbA1c were measured and HOMA2-IR, HOMA2-S, HOMA2-B were calculated. In obese children (BMI ≥95th percentile) OGTT was performed. RESULTS: The prevalence of overweight/obesity in the study group was 38%, in the control group 41% (p=0.19). Higher fasting glucose level (p=0.02) and HbA1c (p=0.00004) were found in the study group comparing to the control. In children exposed to GDM in utero a positive correlation of fasting insulin and WHR (Rs=0.31, p=0.028) as well as significantly lower HOMA2-B (p=0.03) were observed. In the study group higher HOMA2-IR (p=0.0002) and HOMA2-B (p=0.0000039) and also lower HOMA2-S (p=0.0002) were observed among participants with overweight/obesity comparing to children with normal body weight. In the study group a correlation of HOMA2-IR and SD of the birth weight was found (Rs=0.28, p=0.049). CONCLUSIONS: Children exposed to gestational diabetes in utero, in spite of similar prevalence of overweight/obesity comparing to their non-exposed peers, could have higher risk of glucose intolerance and diabetes mellitus in future. Towards observed decreased insulin sensitivity and compensatory increase in insulin secretion, prevention of overweight and obesity in this group seems to be essential.


Assuntos
Peso ao Nascer , Diabetes Gestacional/epidemiologia , Intolerância à Glucose/epidemiologia , Obesidade/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Adolescente , Glicemia/metabolismo , Índice de Massa Corporal , Peptídeo C/metabolismo , Estudos de Casos e Controles , Criança , Feminino , Intolerância à Glucose/metabolismo , Teste de Tolerância a Glucose , Hemoglobinas Glicadas/metabolismo , Humanos , Insulina/metabolismo , Resistência à Insulina , Masculino , Obesidade/metabolismo , Sobrepeso/epidemiologia , Sobrepeso/metabolismo , Gravidez , Efeitos Tardios da Exposição Pré-Natal/metabolismo , Prevalência , Razão Cintura-Estatura , Relação Cintura-Quadril
20.
Artigo em Polonês | MEDLINE | ID: mdl-26615012

RESUMO

INTRODUCTION: Current studies show uncreased risk of obesity cardiovascular diseases and diabetes mellitus in children exposed to gestational diabetes in utero. AIM: The aim of this study was to assess the selected anthropometric parameters in children exposed to gestational diabetes in utero. MATERIAL AND METHODS: 43 children, 7-15 years of age, exposed to gestational diabetes in utero were included in the study. Data including mother's pregestational anthropometric parameters, the course of pregnancy and anthropometric parameters of a newborn were obtained from the interview and medical records. Pediatric physical examination with Tanner assessment of pubertal development was conducted. In children and mothers the height and body mass were measured, and body mass index (BMI) was calculated. In participants of the study waist and hip circumferences were measured. RESULTS: Higher birth weight (p=0.02), head and chest circumferences (p=0,02 and p=0.03) were observed in newborns of mothers with pregestational overweight and obesity. The analysis of newborns growth parameters and type of gestational diabetes did not show a significant difference. Obesity (BMI z 95th percentile) was diagnosed in 9 children (20.9 %) and overweight (BMI between 85th and 94th percentile) in 6 participants (13.9%). Higher body mass (p=0.02), BMI (p=0.02) and waist circumference (p-0.03) were observed in children who reached III-V Tanner stage, comparing to participants in Tanner Ml. Higher body mass, BMI, waist and hip circumferences were observed in the offspring of mothers with pregestational overweight and obesity. Mothers of children with BMI > 90th percentile currently show higher body mass and BMI in comparison to mothers of slimmer participants. CONCLUSIONS: Excessive body weight before pregnancy in mothers with gestational diabetes can influence not only the anthropometric parameters of newborns and lead to fetal macrosomy, but also can be a predisposing factor for overweight and obesity in later childhood.


Assuntos
Peso ao Nascer , Índice de Massa Corporal , Diabetes Gestacional/fisiopatologia , Obesidade Infantil/etiologia , Complicações na Gravidez , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Adolescente , Adulto , Antropometria , Criança , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Fatores de Risco
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