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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.
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Síndrome Metabólico/complicaciones , Enfermedad del Hígado Graso no Alcohólico/etiología , Adolescente , Niño , Femenino , Prueba de Tolerancia a la Glucosa , Humanos , Resistencia a la Insulina , Hígado/diagnóstico por imagen , Masculino , Síndrome Metabólico/epidemiología , Obesidad/complicaciones , Prevalencia , Factores de Riesgo , UltrasonografíaRESUMEN
Diet plays a crucial role in managing type 1 diabetes (T1DM). Background/Objectives:This study aimed to determine the impact of nutritional habits on sleep deprivation and glucose control in school-aged children with T1DM. Methods: In this cross-sectional study, nutritional habits and sleep deprivation were assessed in 100 school-aged children with T1DM, aged 7-13 years. The Dietary Habits Index and the Sleep Deprivation Scale for Children and Adolescents were used to evaluate nutritional habits and the level of sleep deprivation. Patients' sociodemographic and nutritional variables were collected through researcher-composed questionnaires. HbA1c levels over the past 6 months were obtained from the patient data system. Results: The study found a moderately strong positive correlation between the Dietary Habits Index score and HbA1c (p < 0.001), with 28% of the variation in HbA1c explained by changes in the Dietary Habits Index score. However, no correlation was found between the Dietary Habits Index score and the level of sleep deprivation. Conclusions: The nutritional habits of school-aged children with T1DM may affect glucose control and sleep deprivation. Therefore, it is important to educate children with T1DM on making healthy food choices to manage their condition effectively.
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Objective: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported non-adherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the Coronavirus disease-2019 (COVID-19) pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH. In addition, potential problems with GH treatment during the pandemic were investigated. Methods: This was a multicenter survey study that was sent to pediatric endocrinologists during the pandemic period (June-December 2021). Patient data, diagnosis, history of pituitary surgery, current GH doses, duration of GH therapy, the person administering therapy (either parent/patient), duration of missed doses, reasons for missed doses, as well as problems associated with GH therapy, missed dose data and the causes in the recent year (after the onset of the pandemic) were questioned. Treatment adherence was categorized based on missed dose rates over the past month (0 to 5%, full adherence; 5.1 to 10% moderate adherence; >10% non-adherence). Results: The study cohort consisted of 427 cases (56.2% male) from thirteen centers. Median age of diagnosis was 8.13 (0.13-16) years. Treatment indications were isolated GH deficiency (61.4%), multiple pituitary hormone deficiency (14%), Turner syndrome (7.5%), idiopathic GH deficiency (7.5%), small for gestational age (2.8%), and "others" (6.8%). GH therapy was administered by parents in 70% and by patients in 30%. Mean daily dose was 32.3 µg/kg, the annual growth rate was 1.15 standard deviation score (minimum -2.74, maximum 9.3). Overall GH adherence rate was good in 70.3%, moderate in 14.7%, and poor in 15% of the patients. The reasons for non-adherence were mainly due to forgetfulness, being tired, inability to access medication, and/or pen problems. It was noteworthy that there was a negative effect on adherence during the COVID-19 pandemic reported by 22% of patients and the main reasons given were problems obtaining an appointment, taking the medication, and anxiety about going to hospital. There was no difference between genders in the adherence rate. Non-adherence to GH treatment decreased significantly when the patient: administered the treatment; was older; had longer duration of treatment; and during the pandemic. There was a non-significant decrease in annual growth rate as non-adherence rate increased. Conclusion: During the COVID-19 pandemic, the poor adherence rate was 15%, and duration of GH therapy and older age were important factors. There was a negative effect on adherence during the pandemic period.
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COVID-19 , Hormona de Crecimiento Humana , Cumplimiento de la Medicación , Humanos , COVID-19/epidemiología , Niño , Hormona de Crecimiento Humana/uso terapéutico , Hormona de Crecimiento Humana/administración & dosificación , Femenino , Masculino , Cumplimiento de la Medicación/estadística & datos numéricos , Adolescente , Preescolar , SARS-CoV-2 , Pandemias , Lactante , Encuestas y CuestionariosRESUMEN
Introduction: Proportional short stature is one of the most important features of Noonan Syndrome, and adult height often remains below the 3rd percentile. Although the pathophysiology of short stature in NS patients is not fully understood, it has been shown that GH treatment is beneficial in NS, and it significantly improves the height in respect to the results of short and long-term GH treatment. Methods: In this study, the efficacy of GH therapy was evaluated in children and adolescents with Noonan syndrome who attained final height. In this national cohort study, 67 cases with NS who reached final height from 14 centers were evaluated. Results: A total of 53 cases (mean follow-up time 5.6 years) received GH treatment. Height SDS of the subjects who were started on GH tended to be shorter than those who did not receive GH (-3.26± 1.07 vs. -2.53 ±1.23) at initial presentation. The mean final height and final height SDS in girls using GH vs those not using GH were 150.1 cm and -2.17 SD vs 47.4 cm and-2.8 SD, respectively. The mean final height and final height SDS in boys using GH vs. not using GH were 162.48 ± 6.19 cm and -1.81 SD vs 157.46 ± 10.16 cm and -2.68 ± 1.42 SD, respectively. The Δheight SDS value of the cases was significantly higher in the group receiving GH than in those not receiving GH (1.36 ± 1.12 SD vs. -0.2 ± 1.24, p<0.001). Cardiac findings remained stable in two patients with hypertrophic cardiomyopathy who received GH treatment. No significant side effects were observed in the cases during follow-up. Conclusion: In patients with Noonan syndrome who reach their final height, a significant increase in height is observed with GH treatment, and an increase of approximately +1.4 SDS can be achieved. It has been concluded that GH treatment is safe and effective.
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Objective: Craniopharyngiomas (CPG) have complex treatment challenges due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. The aim of this study was to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. A further aim was to highlight the difficulties associated with CPG management. Methods: Sixteen centers entered CPG patients into the ÇEDD NET data system. The clinical and laboratory characteristics at presentation, administered treatments, accompanying endocrine, metabolic, and other system involvements, and the patient's follow-up features were evaluated. Results: Of the 152 evaluated patients, 64 (42.1%) were female. At presentation, the mean age was 9.1±3.67, ranging from 1.46 to 16.92, years. The most common complaints at presentation were headache (68.4%), vision problems (42%), short stature (15%), and nausea and vomiting (7%). The surgical procedures were gross total resection (GTR) in 97 (63.8%) and subtotal resection in 55 (36.2%). Radiotherapy (RT) was initiated in 11.8% of the patients. Histopathological examination reported 92% were adamantinamatous type and 8% were papillary type. Postoperatively, hormone abnormalities consisted of thyroid-stimulating hormone (92.1%), adrenocorticotropic hormone (81%), antidiuretic hormone (79%), growth hormone (65.1%), and gonadotropin (43.4%) deficiencies. Recombinant growth hormone treatment (rhGH) was initiated in 27 (17.8%). The study showed hesitancy among physicians regarding rhGH. The median survival without relapse was 2.2 years. Median (range) time of relapse was 1.82 (0.13-10.35) years. Relapse was related to longer followups and reduced GTR rates. The median follow-up time was 3.13 years. Among the last follow-up visits, the prevalence of obesity was 38%, but of these, 46.5% were already obese at diagnosis. However, 20% who were not obese at baseline became obese on follow-up. Permanent visual impairment was observed in 26 (17.1%), neurological deficits in 13 (8.5%) and diabetes mellitus in 5 (3.3%) patients. Conclusion: Recurrence was predominantly due to incomplete resection and the low rate of postoperative RT. Challenges emerged for multidisciplinary regular follow ups. It is suggested that early interventions, such as dietary restrictions and increased exercise to prevent obesity, be implemented.
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Craneofaringioma , Neoplasias Hipofisarias , Humanos , Craneofaringioma/terapia , Craneofaringioma/epidemiología , Femenino , Masculino , Niño , Adolescente , Preescolar , Neoplasias Hipofisarias/terapia , Neoplasias Hipofisarias/epidemiología , Lactante , Enfermedades del Sistema Endocrino/epidemiología , Enfermedades del Sistema Endocrino/terapia , Enfermedades del Sistema Endocrino/etiología , Estudios de Seguimiento , Resultado del TratamientoRESUMEN
OBJECTIVES: Diabetes mellitus (DM) is widely known to have a detrimental effect on bone health and is associated with increased fracture risk. Recently, the Wnt/beta-catenin signaling pathway and its inhibitors sclerostin and dickkopf-1 (Dkk-1) were found to be involved in the control of bone mass. The present study aimed to measure serum sclerostin and Dkk-1 protein levels in children and adolescents with type-1 DM and compare with other bone turnover markers and bone mineral density (BMD). METHODS: This study was performed on 40 children and adolescents with type-I DM and 40 healthy children and adolescents. Anthropometric measurements and pubertal examination were done. In addition to laboratory analysis, dickkopf-1, sclerostin, cross-linked N-telopeptides of type I collagen (NTx), bone alkaline phosphatase (bALP), and osteocalcin levels were studied. BMD of the participants was measured by calcaneus ultrasonography. RESULTS: Dickkopf-1 levels of the children and adolescents with type-1 DM were significantly higher, vitamin D, NTx, osteocalcin, and phosphorus levels were significantly lower than those of the controls (p<0.001). Fasting blood glucose, HbA1c, and insulin were significantly higher in the type 1 DM group (p<0.01). CONCLUSIONS: Both bone remodeling and its compensatory mechanism bone loss are lower in children and adolescents with type-1 DM than in the controls. Also, higher levels of Dkk-1 play a role in decreased bone turnover in these patients. Since Dkk-1 and sclerostin seem to take a role in treating metabolic bone diseases in the future, we believe that our findings are significant in this respective.
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Proteínas Morfogenéticas Óseas , Diabetes Mellitus Tipo 1 , Péptidos y Proteínas de Señalización Intercelular/sangre , Proteínas Adaptadoras Transductoras de Señales , Adolescente , Biomarcadores , Densidad Ósea , Remodelación Ósea , Niño , Diabetes Mellitus Tipo 1/complicaciones , Marcadores Genéticos , Humanos , OsteocalcinaRESUMEN
Objective: Diabetic ketoacidosis (DKA) is an important complication of type 1 diabetes mellitus. We aimed to evaluate the effect of metabolic disorders of DKA on electrocardiography (ECG) parameters in children. Methods: This study was performed between December 2018 and March 2020 and included 39 children with DKA and 40 healthy children. Three ECGs (one before and two after treatment) were obtained from the patient group. P-wave dispersion (Pd), QT dispersion (QTd), QTc dispersion (QTcd), Tp-e intervals, and the ratios of Tp-e/QT and Tp-e/QTc were measured electrocardiographically. ECG parameters from children with DKA and healthy controls were compared statistically. Results: The mean age of the patient group was 10.50±4.12 years. There was no significant difference in terms of age, gender, weight, height and body mass index between patients and controls. In the patient group, a statistically significant increase was found in Pd, QTd and QTcd in the initial ECG compared to the second and third ECGs. Also, when the first and third ECGs were compared, a significant increase in Tp-e and Tp-e/QT was evident in the first ECG. There was a significant difference in the values of Pd, QTd, QTcd, Tp-e and Tp-e/QT in the first ECGs, obtained before DKA treatment, and those values obtained from the control group. Conclusion: This is the first article evaluating Pd and Tp-e parameters in children with DKA. Cardiac arrhythmia risk markers were increased in children with DKA compared to controls. Therefore, clinicians should be aware of the possibility of developing new arrhythmias during DKA treatment.
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Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Adolescente , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/etiología , Niño , Diabetes Mellitus Tipo 1/complicaciones , Cetoacidosis Diabética/complicaciones , Cetoacidosis Diabética/diagnóstico , Electrocardiografía , HumanosRESUMEN
OBJECTIVES: Acanthosis nigricans is a skin symptom in obesity that helps to identify patients at high risk for dyslipidemia, hypertension, insulin resistance, and diabetes. It is the most important complication of obesity in metabolic syndrome. Studies investigating the relationship between acanthosis nigricans and metabolic syndrome in obese children are insufficient. In our study, the relationship of acanthosis nigricans and metabolic syndrome was evaluated in children. METHODS: Obese children aged between 6 and 18 years old, who were examined in the pediatric endocrinology outpatient clinic, were included. The patients' anthropometric measurements and laboratory results were recorded. Modified IDF (International Diabetes Federation) criteria for children were used in metabolic syndrome classification. RESULTS: A hundred and forty-eight obese children were evaluated. The mean age of the cases was 11.91 ± 2.94 years old. Of the cases, 56.1% were female (n=83) 43.9% (n=65) were male. In 39.9% (n=59) of cases, acanthosis nigricans was determined. Acanthosis nigricans was mostly located in the axillary area (27.1%) and the neck (16.9%). In 55.9% of the cases, it was located in more than one area. The relation of regionally detected acanthosis nigricans and metabolic syndrome was not significant (p=0.291). Metabolic syndrome was detected in 14% of 136 patients according to IDF criteria. Acanthosis nigricans and metabolic syndrome combination was present in 27.7%; however, 6.7% of the metabolic syndrome patients did not have acanthosis nigricans. There was a strong relation between metabolic syndrome and the presence of acanthosis nigricans (p=0.003). CONCLUSIONS: In our study, a correlation between acanthosis nigricans and metabolic syndrome was detected. Acanthosis nigricans is a skin sign that can be easily detected by clinician. It is an important and easy-to-detect dermatosis that helps determine patients at risk of metabolic syndrome in obese children.
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Acantosis Nigricans/patología , Biomarcadores/metabolismo , Síndrome Metabólico/patología , Obesidad/complicaciones , Sobrepeso/complicaciones , Acantosis Nigricans/etiología , Acantosis Nigricans/metabolismo , Adolescente , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Síndrome Metabólico/etiología , Síndrome Metabólico/metabolismo , PronósticoRESUMEN
Background Autoimmune thyroid diseases (ATDs) can be classified into two basic diseases: Graves' disease (GD) and Hashimoto's thyroiditis (HT). Here, we review the effectiveness of laboratory and imaging methods used for the early diagnosis of ATD and draw attention to methods that may improve screening. Methods Retrospective data of 142 patients diagnosed with ATD between January 2010 and December 2015 at our paediatric endocrinology clinic were used. Sociodemographic characteristics, clinical findings, treatments and follow-up data of patients were statistically evaluated. Results Of the ATD cases, 81% (n = 115) were female. The median age was 12.5 ± 3.5 (range 1-17) years and 91% (n = 129) of patients were in puberty. There was a significant positive correlation between the height (standard deviation score) and follow-up time for patients with HT (r = 0.156, p < 0.01). Thyroglobulin antibody (TgAb) positivity was found in 75% (45/60) of females with a positive maternal ATD history (p = 0.045). Thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4) values were significantly altered during the treatment follow-up period in female patients with GD and HT, while only fT4 values were found to be significantly altered in boys with HT. Conclusion Although GD and HT have similar mechanisms, they differ in terms of treatment duration and remission and relapse frequencies. Ultrasonography (USG) screening is a non-invasive procedure that is suitable for all patients with ATD. Based on our results, TgAb could be useful in the screening of girls with a history of maternal ATD.
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Autoanticuerpos/sangre , Biomarcadores/sangre , Enfermedad de Graves/patología , Enfermedad de Hashimoto/patología , Hormonas Tiroideas/sangre , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Enfermedad de Graves/sangre , Enfermedad de Graves/tratamiento farmacológico , Enfermedad de Graves/inmunología , Enfermedad de Hashimoto/sangre , Enfermedad de Hashimoto/tratamiento farmacológico , Enfermedad de Hashimoto/inmunología , Humanos , Lactante , Masculino , Morbilidad , Pronóstico , Estudios Retrospectivos , Pruebas de Función de la TiroidesRESUMEN
Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of ≥32 gestational weeks and ≥1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatographyt-andem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+17-OHP)/F of ≥0.7 (increased from ≥0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11%) required second-tier testing and 880 (0.36%) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11ß-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11ß-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11ß-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.
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Hiperplasia Suprarrenal Congénita/diagnóstico , Tamizaje Neonatal , Hiperplasia Suprarrenal Congénita/epidemiología , Diagnóstico Precoz , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Tamizaje Neonatal/métodos , Tamizaje Neonatal/organización & administración , Proyectos Piloto , Evaluación de Programas y Proyectos de Salud , Estudios Retrospectivos , Turquía/epidemiologíaRESUMEN
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.
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Calcitriol/administración & dosificación , Hormonas y Agentes Reguladores de Calcio/administración & dosificación , Fosfatos/administración & dosificación , Fosfatos/sangre , Raquitismo Hipofosfatémico/sangre , Raquitismo Hipofosfatémico/tratamiento farmacológico , Raquitismo Hipofosfatémico/genética , Adolescente , Niño , Preescolar , Estudios de Cohortes , Quimioterapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Evaluación de Resultado en la Atención de Salud , Endopeptidasa Neutra Reguladora de Fosfato PHEX/genética , TurquíaRESUMEN
Objective: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt-wasting (SW) form and in reducing mortality. In this study, our aim was to estimate the incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy. Methods: A pilot newborn CAH screening study was carried out under the authority of the Turkish Directorate of Public Health. Newborn babies of ≥32 gestational weeks and ≥1500 gr birth weight from four cities, born between March 27-September 15, 2017 were included in the study. Screening protocol included one sample two-tier testing. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. The cases with positive initial screening were tested by steroid profiling in DBS using a liquid chromatography-tandem mass spectrometry method to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione as a second-tier test. The babies with a steroid ratio (21-S+17-OHP)/F of ≥0.5 were referred to pediatric endocrinology clinics for diagnostic assessment. Results: 38,935 infants were tested, 2265 (5.82%) required second-tier testing and 212 (0.54%) were referred for clinical assessment, six of whom were diagnosed with CAH (four males, two females). Four cases were identified as SW 21-hydroxylase deficiency (21-OHD) (two males, two females). One male baby had simple virilizing 21-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD in the screened population was 1:7,787. Conclusion: The incidence of CAH due to classical 21-OHD is higher in Turkey compared to previous reports. We, therefore, suggest that CAH be added to the newborn screening panel in Turkey. The use of steroid profiling as a second-tier test was found to improve the efficacy of the screening and reduce the number of false-positives.
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Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/epidemiología , Tamizaje Neonatal/métodos , Femenino , Humanos , Incidencia , Recién Nacido , Masculino , Proyectos Piloto , Estudios Prospectivos , Turquía/epidemiologíaRESUMEN
BACKGROUND: Ovotesticular disorders of sexual development (OT-DSD) represent a rare sex development disorder characterized by the presence of both ovarian and testicular tissues in the same or the contralateral gonad. CASE: We present the case of a 14-year-old female patient with signs of virilization at a pubertal age and with dysmorphic features, diagnosed as 46,XX OT-DSD. CONCLUSION: We want to point out that patients with 46 XX OT-DSD may present with virilization at puberty and may be accompanied by dysmorphic features.
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Trastorno Dismórfico Corporal , Trastornos Ovotesticulares del Desarrollo Sexual/diagnóstico , Desarrollo Sexual , Virilismo , Adolescente , Femenino , Humanos , Pubertad , Maduración SexualRESUMEN
OBJECTIVE: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. METHODS: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. RESULTS: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. CONCLUSION: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.
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Cariotipificación , Síndrome de Turner/epidemiología , Síndrome de Turner/genética , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Comorbilidad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Prevalencia , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia , Turquía/epidemiologíaRESUMEN
BACKGROUND: The recent rise in the prevalence of obesity likely explains nonalcoholic fatty liver disease (NAFLD) epidemic worldwide. We evaluated cardiac functions, cardiovascular risk, and associated parameters with grades of NAFLD in obese children. METHODS: Four hundred obese children were enrolled in the study. Obese children with NAFLD were classified in 2 subgroups according to ultrasonographic visualizing. Ninety-three obese children with NAFLD (mean age 11.73 ± 2.72 years in group 2 and 12.69 ± 2.61 years in group 3) were compared with 307 age- and sex-matched non-NAFLD obese children and 150 control subjects. Laboratory parameters were measured during the fasting state. Pulsed and tissue Doppler echocardiography were performed. Intima-media (IMT) and epicardial adipose tissue (EAT) thicknesses were measured. RESULTS: NAFLD groups had a significantly higher body mass index (29.15 ± 3.42 and 30.46 ± 4.60; P < 0.001), total adipose tissue mass (37.95 ± 4.46% and 46.57 ± 6.45%; P < 0.001), higher insulin, alanine aminotransferase, and aspartate aminotransferase levels. Increased end-systolic thickness of the interventricular septum (P < 0.001), larger left ventricular mass (P < 0.003) and index (P < 0.003) were found in NAFLD groups. Children with NAFLD had higher Tei index values. Also, carotid artery IMT and EAT thickness were significantly higher in obese children. Waist and hip circumference, total cholesterol level, total adipose tissue mass, and interventricular septum were statistically different in NAFLD groups. CONCLUSIONS: Children with NAFLD had mildly altered left and right ventricular functions and all obese children had increased IMT and EAT thickness. Also, grade of liver steatosis was positively correlated with total adipose tissue mass and interventricular septum systolic thickness.
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Enfermedades Cardiovasculares/etiología , Hígado Graso/complicaciones , Obesidad/complicaciones , Tejido Adiposo/patología , Adolescente , Índice de Masa Corporal , Enfermedades Cardiovasculares/fisiopatología , Grosor Intima-Media Carotídeo , Estudios de Casos y Controles , Niño , Estudios de Cohortes , Ecocardiografía Doppler/métodos , Hígado Graso/diagnóstico por imagen , Hígado Graso/fisiopatología , Femenino , Ventrículos Cardíacos/fisiopatología , Humanos , Masculino , Enfermedad del Hígado Graso no Alcohólico , Obesidad/fisiopatología , Factores de RiesgoRESUMEN
OBJECTIVE: To investigate the relationships between metabolic syndrome (MS), other metabolic features and left ventricular mass index (LVMI) in a population of obese children and adolescents with MS. METHODS: Two hundred and eight obese children and adolescents (119 females and 89 males, mean age: 11.9±2.7 years) and control subjects (24 females and 26 males, mean age: 11.4±2.9 years) were enrolled in the study. The insulin sensitivity index and LVMI were determined. The International Diabetes Federation criteria were used to diagnose MS. RESULTS: The obese patients were divided into MS group (n=55) and non-MS (n=153) group. The values of LVMI in the MS group were significantly higher than those in the non-MS group (p=0.014). The present LVMI cut-off point of 33 g/m² for the diagnosis of MS yielded a sensitivity of 97% and a specificity of 98%. LVMI was found to be positively correlated in univariate analysis with height, weight, body mass index (BMI) SDS, fasting insulin level, homeostasis model assessment of insulin resistance (HOMA-IR) and fasting glucose to insulin ratio (FGIR) and negatively correlated with quantitative insulin sensitivity check index (QUICK-I). CONCLUSIONS: We suggest that our optimal LVMI cut-off value for identifying MS may be considered as a sensitive index in screening obese children and adolescents for pediatric MS. Assessment of LVMI in obese children and adolescents may be used as a tool in predicting the presence of MS and its associated cardiovascular risks.
Asunto(s)
Corazón/anatomía & histología , Resistencia a la Insulina/fisiología , Síndrome Metabólico/patología , Obesidad/patología , Adolescente , Glucemia/metabolismo , Índice de Masa Corporal , Estudios de Casos y Controles , Niño , Ecocardiografía , Femenino , Ventrículos Cardíacos/anatomía & histología , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Masculino , Síndrome Metabólico/sangre , Obesidad/sangre , Curva ROC , Turquía , Población UrbanaRESUMEN
OBJECTIVE: Infants of diabetic mothers (IDM) are considered as a risk group for atherosclerosis. Increased aortic intima-media thickness has been reported in IDM. The purpose of this study was to assess carotid artery intima-media thickness (CA-IMT), left ventricular mass index (LVMI) and atherosclerotic risk factors in IDM. METHODS: Thirty IDM and 25 healthy controls were included in the study. Of these infants, 14 were appropriate-for-gestational age (AGA) and 16 were large-for-gestational age (LGA). CA-IMT and LVMI were obtained by M-mode echocardiographic examination. The relationship between parameters of atherosclerosis and echocardiographic measurements was assessed by Pearson's correlation analysis. RESULTS: LVMI was higher in LGA IDM when compared to AGA IDM and controls. CA-IMT was not significantly different between the groups and was also not related to atherosclerotic risk factors. Serum lipid and insulin levels were higher in LGA IDM when compared with AGA IDM and controls. There were no correlations between CA-IMT, LVMI and atherosclerotic risk factors. CONCLUSIONS: In contrast to previous reports indicating an increase in CA-IMT in IDM, no differences were found between IDM and controls in this study. Our results indicate that macrosomic IDM are prone to hypertrophic cardiomyopathy but not to atherosclerotic changes in the blood vessels.