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1.
Am J Med Genet A ; 170A(4): 942-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26788866

RESUMO

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.


Assuntos
Cariótipo Anormal , Antropometria , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Fenótipo , Adulto Jovem
2.
Pediatr Cardiol ; 36(5): 925-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25601134

RESUMO

Children with Turner syndrome (TS) have a broad range of later health problems, including an increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the relationship between periaortic fat thickness (PAFT) and metabolic and cardiovascular profiles in children with TS. Twenty-nine TS and 29 healthy children and adolescents were enrolled in the study. Anthropometric measurements, pubertal staging, and blood pressure measurements were performed. Fasting serum glucose, insulin, and lipid profile were measured. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in children with TS. No difference was found between TS and control subject (CS) in age, weight, waist/hip ratio, HDL cholesterol and LDL cholesterol levels. However, in TS subjects, total cholesterol (p = 0.045) was greater than that in controls. It was determined that 13.7 % (N: 4) of TS subjects had dyslipidemia. Mean fasting glucose, fasting insulin, QUICK-I, HOMA, and FGIR index were similar in TS and in CS, whereas 17.2 % (N: 5) of TS subjects had insulin resistance (IR) and 13.7 % (N: 4) had impaired glucose tolerance. Six subjects (20.6 %) were diagnosed as hypertensive. Periaortic fat thickness was significantly higher in the TS group (p < 0.001) (0.1694 ± 0.025 mm in the TS group and 0.1416 ± 0.014 mm in the CS group) In children with TS, PAFT was positively correlated with fasting insulin, body mass index, and diastolic blood pressure. Our results provide additional evidence for the presence of subclinical cardiovascular disease in TS. In addition to existing methods, we recommend the measurement of periaortic fat thickness in children with TS to reveal the presence of early atherosclerosis.


Assuntos
Aorta/patologia , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/etiologia , Gordura Intra-Abdominal/patologia , Gordura Subcutânea/patologia , Síndrome de Turner/complicações , Adolescente , Aorta/diagnóstico por imagem , Glicemia/metabolismo , Pressão Sanguínea , Índice de Massa Corporal , Doenças Cardiovasculares/diagnóstico por imagem , Doenças Cardiovasculares/patologia , Criança , Pré-Escolar , Colesterol/sangue , Feminino , Humanos , Hipertensão , Insulina/sangue , Resistência à Insulina , Lipídeos/sangue , Masculino , Fatores de Risco , Ultrassonografia
3.
Pediatr Cardiol ; 35(1): 57-62, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23794013

RESUMO

Patients with Turner syndrome (TS) have an increased risk of cardiovascular morbidity. 29 TS and 25 healthy control subjects (CS) were included in the study. We investigated body mass index, waist circumference, fasting glucose and insulin, homeostatic model assessment (HOMA) index, serum lipids, oral glucose tolerance test, 24-h ambulatory blood pressure (BP) monitoring, and carotid intima-media thickness (CIMT) and compared them with CS. 28 % (N = 7) of TS had insulin resistance (IR), and 36 % (N = 9) had IGT. Mean systolic BP and diastolic BP (DBP) dip were 7.24 ± 3.97 % and 11.84 ± 6.2 %, respectively. CIMT was greater in TS than in CS (p = 0.00). CIMT was correlated positively with fasting insulin, HOMA index, and insulin-sensitivity check index (r = 0.563, p = 0.015; r = 0.603, p = 0.008; and r = 0.623, p = 0.006, respectively) and negatively with fasting glucose-to-insulin ratio and DBP dipping (r = -0.534, p = 0.022; r = -0.534, p = 0.00, respectively) in the two groups combined. These results provide additional evidence for the presence of subclinical cardiovascular disease and its relation to hypertension in TS. They also indicate a significant relation between DBP dipping and increased arterial stiffness. It is also important to note that our findings show significant relationships between insulin sensitivity and cardiovascular changes and underline the importance of insulin resistance for predicting cardiovascular disease.


Assuntos
Doenças Assintomáticas , Monitorização Ambulatorial da Pressão Arterial , Doenças Cardiovasculares , Síndrome de Turner/complicações , Adolescente , Monitorização Ambulatorial da Pressão Arterial/métodos , Monitorização Ambulatorial da Pressão Arterial/estatística & dados numéricos , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/fisiopatologia , Artérias Carótidas/diagnóstico por imagem , Artérias Carótidas/fisiopatologia , Espessura Intima-Media Carotídea , Criança , Diagnóstico Precoce , Feminino , Humanos , Resistência à Insulina , Medicina Preventiva , Prognóstico , Projetos de Pesquisa , Turquia/epidemiologia , Síndrome de Turner/epidemiologia , Rigidez Vascular
4.
Eat Weight Disord ; 19(4): 495-501, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24844310

RESUMO

OBJECTIVE: The aim of this study was to identify which metabolic syndrome criteria (WHO or IDF) better reflect the presence of non-alcoholic fatty liver disease (NAFLD) and to determine the prevalence of metabolic syndrome (MS) and NAFLD. METHODS: Two hundred and seventeen obese children and adolescents, 8-15 years of age (body mass index >95 p), were included in the study. Anthropometric measurements, blood pressure measurements, an oral glucose tolerance test and lipid profile were measured. MS was diagnosed according to WHO and IDF criteria. NAFLD risk ratio was assessed according to the two MS criteria. RESULTS: The prevalence of MS according to the IDF criteria was 43.3 %, and according to WHO criteria it was 55.2 %. NAFLD prevalence in the metabolic syndrome group according to IDF criteria was 25.5 % and this was statistically significant (p = 0.007). The prevalence of NAFLD was 20.8 % in the group with MS according to WHO criteria and this was not a statistically significant difference (p = 0.15). NAFLD hazard ratios were 7.06 (95 % CI 1.29-5.50) in the MS group according to IDF criteria and 2.02 (95 % CI 0.81-3.53) in the group with metabolic syndrome according to WHO criteria. IDF criteria were found to have a higher odds ratio. CONCLUSION: The prevalence of MS depends on the diagnostic criteria used. IDF criteria give the best measure for the presence of NAFLD. NAFLD might be important as diagnostic criterion for MS.


Assuntos
Síndrome Metabólica/complicações , Hepatopatia Gordurosa não Alcoólica/etiologia , Adolescente , Criança , Feminino , Teste de Tolerância a Glucose , Humanos , Resistência à Insulina , Fígado/diagnóstico por imagem , Masculino , Síndrome Metabólica/epidemiologia , Obesidade/complicações , Prevalência , Fatores de Risco , Ultrassonografia
5.
Br J Radiol ; 97(1155): 594-599, 2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-38331404

RESUMO

OBJECTIVE: Accurate distinction between central pubertal precociousness (PP) and premature thelarche (PT) is important to guide treatment. Both greyscale ultrasonography (US) and sonoelastography can be used to examine breast tissue. The aim of this study is to investigate the performance of breast US and strain elastographic (SE) in the diagnosis of increased breast volume in girls. METHODS: Sixty-three girls with breast development up to 8 years of age and diagnosed with PP and PT were included in the prospective study. Basal luteinizing hormone (LH), follicle-stimulating hormone (FSH), and estradiol (E2) values were obtained. Each bud was considered as a unit in US. Mediolateral (ML) and anteroposterior diameters (AP) were measured, and US grading was performed. Breast SE was examined, and strain index (SI) was calculated. US and laboratory findings were compared. RESULTS: Of the 121 buds examined, 39 (32.2%) were with PP (6.97 ± 2.44 years) and 82 (67.8%) were with PT (6.51 ± 2.52 years). Diameters were correlated with bone age, LH, FSH, and US grade. The mean AP showed a moderate difference in favour of PP between the groups (P < .06). The mean ML was higher in PP (P < .01). There was a difference in mean SI values (P < .004). Sensitivity and specificity were 71% and 61% for ML and 72% and 56% for SI, respectively. CONCLUSION: Both ML and US grading may help discriminate PP from PT. The role of sonoelastography requires further investigation. ADVANCES IN KNOWLEDGE: Ultrasound and SE show significant differences between PP and PT, but these are not sufficiently reliable to be of clinical use. The contribution of sonoelastography requires further study before it can be recommended. However, SI of breast tissue can be helpful in distinguishing PP and PT from other causes of early increase in breast volume.


Assuntos
Técnicas de Imagem por Elasticidade , Puberdade Precoce , Feminino , Humanos , Estudos Prospectivos , Hormônio Luteinizante , Hormônio Foliculoestimulante , Puberdade Precoce/diagnóstico por imagem , Mama/diagnóstico por imagem , Ultrassonografia
6.
Artigo em Inglês | MEDLINE | ID: mdl-38665000

RESUMO

Objective: Maturity-onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n=3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral antidiabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.

7.
Endocrine ; 85(3): 1407-1416, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39020240

RESUMO

PURPOSE: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management. METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated. RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment. CONCLUSION: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.


Assuntos
Hiperplasia Suprarrenal Congênita , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Hiperplasia Suprarrenal Congênita/genética , Estudos de Coortes , Hipertensão/genética , Hipopotassemia/genética , Puberdade Tardia/genética , Esteroide 17-alfa-Hidroxilase/genética , Turquia/epidemiologia
8.
Scand J Clin Lab Invest ; 73(4): 355-60, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23607613

RESUMO

BACKGROUND: Peroxisome proliferator-activated receptors (PPARs) are nuclear proteins that regulate transcriptional responses to peroxisome proliferators. There has been limited research concerned with the childhood expression of these receptors. In this study, we aimed to evaluate PPAR-gamma (PPAR-γ) concentrations and their relationship to body mass index (BMI), ratio of waist and hip, blood pressure levels, insulin resistance and lipid profile in obese children and adolescents. SUBJECTS AND METHODS: Children aged 8-16 years old were included in the study; 44 obese children and 25 healthy children were taken into the study. Blood pressure and waist-hip circumference of obese patients were measured. Following a 12-hour nighttime fasting, venous blood samples were taken, including blood glucose, insulin, lipid profile, liver function tests and PPAR-γ concentrations, and all samples were analyzed at the same time. FINDINGS: PPAR-γ concentrations were 0.226 + 0.128 in obese children and 0.547 + 0.546 in the control group. PPAR-γ concentrations were lower in obese children and this difference was statistically significant (p = 0.008). PPAR-γ concentrations of control children were 2.42-fold higher than obese children. There was a negative correlation between PPAR-γ concentrations and waist circumference, and a positive correlation between birth weight and PPAR-γ concentrations in obese children. CONCLUSION: In our study we found that PPAR-γ concentrations were low in obese children. In adults, treatment modalities aimed at enhancing the activation of PPAR in obesity lead to a decrease in obesity, insulin resistance, dyslipidemia and cardiovascular disease and this gives hope that similar treatment modalities can be used for children.


Assuntos
PPAR gama/sangue , Obesidade Infantil/sangue , Adolescente , Glicemia/metabolismo , Pressão Sanguínea , Índice de Massa Corporal , Estudos de Casos e Controles , Criança , Feminino , Humanos , Insulina/sangue , Resistência à Insulina , Lipídeos/sangue , Masculino , Obesidade Infantil/patologia , Obesidade Infantil/fisiopatologia , Circunferência da Cintura
9.
Eur J Med Genet ; 65(12): 104654, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36343887

RESUMO

Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART. METHOD: Among 230 malepatients with CAH who were followed upwith regular scrotal ultrasonography in 11 different centers in Turkey, 40 patients who developed TARTand whose CAH diagnosis was confirmed by genetic testing were included in this study. Different approaches and methods were used for genotype analysis in this multicenter study. A few centers first screened the patients for the ten most common mutations in CYP21A2 and performed Sanger sequencing for the remaining regions only if these prior results were inconclusive while the majority of the departments adopted Sanger sequencing for the whole coding regions and exon-intron boundaries as the primary molecular diagnostic approach for patients with either CYP21A2 orCYP11B1 deficiency. The age of CAH diagnosis and TART diagnosis, type of CAH, and identified mutations were recorded. RESULTS: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) deficiency]. The youngest patients with TART presenting with CYP11B1 and CYP21A2 deficiency were of 2 and 4 years, respectively. Eight different pathogenic variants in CYP21A2were identified. The most common genotypes were c.293-13C>G/c.293-13C>G (31%) followed by c.955C>T/c.955C>T(27.6%) and c.1069C>T/c.1069C>T (17.2%). Seven different pathogenic variants were identified in CYP11B1. The most common mutation in CYP11B1 in our study was c.896T>C (p.Leu299Pro). CONCLUSION: We found that 83% TART patients were affected with SW typeCYP21A2 deficiency,and the frequent mutations detected were c.955C>T (p.Gln319Ter), c.293-13C>G in CYP21A2 and c.896T>C (p.Leu299Pro) inCYP11B1. Patients with CYP11B1 deficiency may develop TART at an earlier age. This study that examined the genotype-phenotype correlation in TART may benefit further investigations in larger series.


Assuntos
Hiperplasia Suprarrenal Congênita , Tumor de Resto Suprarrenal , Neoplasias Testiculares , Masculino , Humanos , Hiperplasia Suprarrenal Congênita/genética , Tumor de Resto Suprarrenal/genética , Tumor de Resto Suprarrenal/diagnóstico , Esteroide 11-beta-Hidroxilase/genética , Genótipo , Neoplasias Testiculares/genética , Neoplasias Testiculares/diagnóstico , Mutação , Esteroide 21-Hidroxilase/genética
10.
J Clin Res Pediatr Endocrinol ; 13(2): 180-186, 2021 06 02.
Artigo em Inglês | MEDLINE | ID: mdl-33374095

RESUMO

Objective: To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male. Methods: A national database was created. The data of patients were asked to be recorded in the data form. Results: The median (range) age of diagnosis was three (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after the age of two years. Most (95.4%) cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a median age of 7.25 (2.4-25.3) years, was performed in 35 cases. Testicular prostheses were placed in 11 (25%) cases at a median age of 11.2 (2.8-17) years. The median final height was 149.2 (132.8-172) cms in 38 patients, including simple virilizing (n=18), salt-wasting (n=6), and 11-beta hydroxylase (n=12). Of the 16 patients above the age of eighteen, university education was completed in 25%. Conclusion: It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Hiperplasia Suprarrenal Congênita , Virilismo , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/epidemiologia , Transtornos 46, XX do Desenvolvimento Sexual/terapia , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/epidemiologia , Hiperplasia Suprarrenal Congênita/terapia , Adulto , Criança , Pré-Escolar , Escolaridade , Feminino , Seguimentos , Terapia de Reposição Hormonal , Humanos , Lactente , Masculino , Estudos Retrospectivos , Cirurgia de Readequação Sexual , Virilismo/diagnóstico , Virilismo/epidemiologia , Virilismo/terapia , Adulto Jovem
11.
J Pediatr Endocrinol Metab ; 33(9): 1139-1145, 2020 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-32809960

RESUMO

Objectives To define thyroid gland vascularity index (VI) values in healthy children with the superb microvascular imaging (SMI) method and to assess whether or not there is a correlation with potential factors that may affect these values. Methods This prospective study included a total of 138 children, their ages varying from 3-17 years. Cases were divided into three subgroups according to age: 3-6, 7-12 and 13-17 years. Gender, age, height, weight, body mass index (BMI), thyroid-stimulating hormone (TSH) and free thyroxine (fT4) values were recorded. Volume and SMI measurements were performed with a 14 L5 mHz linear transducer. VI measurements were performed in the transverse and longitudinal planes and correlation with basic descriptive data was researched. Results Mean age was 11.14 ± 3.34 years and BMI was 19.95 ± 4.92. VI values were 4.59 ± 2.34 in the right lobe and 4.23 ± 2.73 for the left lobe, with no significant difference identified. There were no significant differences in mean VI for all parenchyma regarding gender and age groups. While there was no correlation identified with mean VI for all parenchyma with TSH and fT4, there was, however, a negative correlation with BMI. Conclusions Reference VI values for normal thyroid glands in healthy children and adolescents were defined with the SMI method. There was no correlation between the VI values and age, gender, volume, TSH and fT4 values, while there was a negative significant correlation with BMI.


Assuntos
Índice de Massa Corporal , Processamento de Imagem Assistida por Computador/métodos , Glândula Tireoide/irrigação sanguínea , Glândula Tireoide/diagnóstico por imagem , Hormônios Tireóideos/sangue , Ultrassonografia Doppler/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Estudos Prospectivos , Glândula Tireoide/metabolismo
12.
J Ultrasound ; 23(4): 543-551, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32185701

RESUMO

PURPOSE: We aimed to investigate the use and effectiveness of Shear-Wave Elastography (SWE) in Hashimoto's Thyroiditis (HT) diagnosis and compare the SWE values in HT patients with asymptomatic volunteers. METHODS: The thyroid gland parenchyma of 74 patients whose clinical and laboratory findings and ultrasonography (US) features were indicative of HT and 75 healthy, asymptomatic participants with normal laboratory values were examined using SWE. Their thyroid parenchymal echoes and thyroid gland volume were measured using B-mode US examination. Elastographic measurements were made by plotting the boundaries of thyroid gland by hand, using Free Region of Interest (ROI). The quantitative SWE values [meters/second (m/s) and kilopascal (kPa)] were compared betweent the patients and the controls. The correlation analyses between the SWE measurements and the autoantibodies [Anti-thyroid peroxidase antibody (TPOAbs) and anti-thyroglobulin antibodies (TgAbs)], thyroid-stimulating hormone (TSH), freetriiodothyronine (fT3), free-thyroxine (fT4), and thyroglobulin levels were performed. RESULTS: The mean thyroid SWE measurement values of HT group were significantly higher than the asymptomatic group (p < 0.001). This study proposes 29.45 kPa or 2.77 m/s as a sensitive-spesific cut-off value for HT. We revealed significant positive association between SWE values and TgAb levels, gland volume, TgAb, TPOAb levels, and a significant negative association between SWE and echogenicity (p < 0.001). CONCLUSION: In the assessment of HT, SWE is a highly sensitive imaging method to estimate the degree of fibrosis and to provide objective numerical values.


Assuntos
Técnicas de Imagem por Elasticidade , Doença de Hashimoto/diagnóstico por imagem , Glândula Tireoide/diagnóstico por imagem , Adolescente , Adulto , Autoanticorpos/sangue , Estudos de Casos e Controles , Criança , Feminino , Doença de Hashimoto/imunologia , Doença de Hashimoto/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Glândula Tireoide/patologia , Adulto Jovem
13.
J Clin Res Pediatr Endocrinol ; 12(2): 150-159, 2020 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-31514490

RESUMO

Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7±2.4 years. During the first 3-years of treatment (n=91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p>0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year PTH was higher. However, higher treatment doses of phosphate and calcitriol were found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.


Assuntos
Calcitriol/administração & dosagem , Hormônios e Agentes Reguladores de Cálcio/administração & dosagem , Fosfatos/administração & dosagem , Fosfatos/sangue , Raquitismo Hipofosfatêmico/sangue , Raquitismo Hipofosfatêmico/tratamento farmacológico , Raquitismo Hipofosfatêmico/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Quimioterapia Combinada , Feminino , Seguimentos , Humanos , Lactente , Masculino , Avaliação de Resultados em Cuidados de Saúde , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética , Turquia
14.
Pediatr Hematol Oncol ; 26(6): 461-6, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19657997

RESUMO

Congenital syphilis is a rare, serious disease that continues to be a major health-care problem. The infected neonate may be asymptomatic or multiple-organ system involvement may occur. Anemia and thrombocytopenia are common hematological findings. Hemophagocytic lymphohistiocytosis (HLH) is a clinicopathological condition characterized by activation and uncontrolled nonmalignant proliferation of T lymphocytes and macrophages. The authors report an infant with congenital syphilis as a very rare cause of hemophagocytic syndrome. The reason for anemia and thrombocytopenia in congenital syphilis is not clear. The authors suggest that hemophagocytosis may play role in pathogenesis of cytopenia, particularly thrombocytopenia in patients with congenital syphilis.


Assuntos
Anemia/etiologia , Linfo-Histiocitose Hemofagocítica/etiologia , Sífilis Congênita/complicações , Trombocitopenia/etiologia , Adulto , Anemia/diagnóstico , Anemia/tratamento farmacológico , Feminino , Humanos , Lactente , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Masculino , Gravidez , Sífilis Congênita/patologia , Trombocitopenia/diagnóstico , Trombocitopenia/tratamento farmacológico , Adulto Jovem
15.
Ultrasound Q ; 35(3): 281-289, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30855420

RESUMO

The study aimed to investigate the effectiveness of the vascularization index (VI) obtained using superb microvascular imaging (SMI) technique in the diagnosis of Hashimoto thyroiditis (HT). The thyroid glands of 80 patients with HT and 107 healthy, asymptomatic participants were examined using SMI. The thyroid parenchyma echogenicity was evaluated, and the thyroid gland volume was measured. Vascularization index measurements were performed by manually drawing the contours of the thyroid parenchyma using the free region of interest with color 2-dimensional SMI VI mode. The quantitative VI values of the patients and the asymptomatic group were compared. Correlations between VI values and thyroid autoantibodies and thyroid hormone levels were analyzed. The mean VI value of the thyroid gland was 4.74% ± 1.96% in the asymptomatic group and 12.45% ± 5.87% in HT patients with a statistically significant difference (P < 0.001). Hashimoto thyroiditis can be diagnosed with 86.3% sensitivity and 82.2% specificity when 6.00% VI value was designated as the cutoff value. There was a positive significant correlation between the VI value and the thyroid-stimulating hormone, antithyroglobulin antibodies, anti-thyroid peroxidase antibody levels (P < 0.05); however, no significant correlation was found between the VI values and thyroglobulin and free thyroxine levels (P > 0.05). There was a significant negative correlation between the VI values and the parenchyma echogenicity and positive significant correlation between the thyroid gland volume and the antithyroglobulin antibody and anti-thyroid peroxidase antibody levels (P < 0.05). The VI obtained using the SMI technique can be effectively used as an imaging method for the diagnosis of HT because of its high sensitivity and specificity in representing objective, quantitative numerical values.


Assuntos
Doença de Hashimoto/diagnóstico por imagem , Microvasos/diagnóstico por imagem , Glândula Tireoide/irrigação sanguínea , Glândula Tireoide/diagnóstico por imagem , Ultrassonografia/métodos , Adolescente , Criança , Pré-Escolar , Estudos de Avaliação como Assunto , Feminino , Humanos , Masculino , Sensibilidade e Especificidade
18.
J Pediatr Endocrinol Metab ; 31(8): 855-860, 2018 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-29935116

RESUMO

BACKGROUND: The purpose of this study was to evaluate the macular choroidal thickness in obese children with and without insulin resistance (IR). METHODS: Thirty-six patients with obesity and 26 healthy volunteers were included in this cross-sectional study. The choroidal thickness was measured with enhanced depth imaging optical coherence tomography (EDI-OCT) at the fovea and at positions 500 µm, 1000 µm, 1500 µm nasal and temporal to the fovea. The choroidal thickness measurements of the groups were compared and the correlation between the homeostasis model assessment of insulin resistance (HOMA-IR) and choroidal thickness values was evaluated. RESULTS: The average choroidal thickness in the obese group was significantly lower than that of controls at locations 1000 µm (303.31±58.52 vs. 340.58±69.47, p=0.026) and 1500 µm (284.14±65.06 vs. 336.85±71.37, p=0.004) temporal to the fovea. A subgroup analysis depending on the presence of IR revealed that the choroidal thickness measurements at all positions were thinner in obese children without IR compared to children with IR and healthy controls. This thinning reached a statistical significance at locations 500 µm temporal, 1000 µm temporal and 1500 µm temporal to the fovea (p=0.03, p=0.009 and p=0.006; respectively). There was a moderate correlation between the choroidal thickness measurements and HOMA-IR values (r-values between 0.37 and 0.48; p<0.05). CONCLUSIONS: Our results suggest that obesity and IR may have an influence on the choroidal thickness in children. Longitudinal studies will clarify whether these choroidal changes are progressive and are a sign of microvascular dysfunction in childhood obesity.


Assuntos
Corioide/diagnóstico por imagem , Corioide/patologia , Diagnóstico por Imagem/métodos , Resistência à Insulina , Obesidade/fisiopatologia , Tomografia de Coerência Óptica/métodos , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Prognóstico
20.
J Clin Res Pediatr Endocrinol ; 8(1): 80-5, 2016 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-26759114

RESUMO

OBJECTIVE: In this study, our aim was to determine cardiovascular risk and cardiac function in prediabetic obese children and adolescents. METHODS: The study was conducted on 198 obese children and adolescents 6-18 years of age. Anthropometric measurements, blood pressure measurements, oral glucose tolerance test, lipid profile, and HbA1c levels of patients were assessed. Prediabetes was defined according to American Diabetes Association criteria. Left ventricular mass index (LVMi), carotid intima-media thickness (c-IMT), and tissue Doppler measurements records were used. RESULTS: LVMi was found to be significantly higher in the prediabetes group (p=0.03). There were no statistically significant differences in right ventricular tissue Doppler measurements between the prediabetic and non-prediabetic groups. Left ventricular tissue Doppler measurements were significantly higher in the prediabetes group: LVEEM (left ventricular E/e ratio) (p=0.04); LVEM (left ventricular myocardial velocity cm/s) (p=0.035). LVMi was found to positively correlate with triglyceride level, diastolic blood pressure, waist circumference, body weight standard deviation score and to negatively correlate with high-density lipoprotein cholesterol (p=0.043, r=0.15; p=0.039, r=0.15; p=0.025, r=0.17; p=0.009, r=0.19; p=0.038, r=-0.15, respectively). LVEM was correlated with glucose (p=0.046, r=0.15) and LVEEM was correlated with systolic blood pressure (p=0.035, r=0.15). In linear regression analysis for clinical cardiovascular risk factors, fasting glucose level was the best predictor of LVEM. CONCLUSION: In this study, deterioration of cardiac function in prediabetic obese children and adolescents was shown. We recommend determining cardiovascular risk and cardiac dysfunction at early stages in prediabetic obese children and adolescents.


Assuntos
Biomarcadores/análise , Doenças Cardiovasculares/diagnóstico , Obesidade/complicações , Estado Pré-Diabético/complicações , Adolescente , Doenças Cardiovasculares/etiologia , Espessura Intima-Media Carotídea , Estudos de Casos e Controles , Criança , Ecocardiografia , Feminino , Seguimentos , Teste de Tolerância a Glucose , Humanos , Masculino , Obesidade/fisiopatologia , Estado Pré-Diabético/fisiopatologia , Prognóstico , Fatores de Risco
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