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1.
Clin Endocrinol (Oxf) ; 100(3): 304-311, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38148509

RESUMEN

BACKGROUND: The hypothyroid phenotype associated with resistance to thyroid hormone alpha (RTH-α) is associated with a diverse clinical picture. On the other hand, thyroid-stimulating hormone (TSH) levels are normal. Free triiodothyronine (fT3) and free thyroxine (fT4) levels can also be normal; however, normo- or macrocytic anaemia is usually present in reported cases. Diagnosis is challenging and there is limited data regarding screening methods. OBJECTIVE: The study aimed to assess the efficiency of a screening strategy for RTH-α. SUBJECTS AND METHODS: Out of a total of 6540 children evaluated at the outpatient clinics of paediatric neurology over 2 years and who underwent complete blood count and thyroid function tests, 432 were found to have anaemia. Within this group, we identified 42 children without an underlying specific neurological aetiology who exhibited normo- or macrocytic anaemia, normal TSH levels, fT3 levels in the upper half of the normal range or high, and fT4 levels in the lower half of the normal range or low. We excluded one patient who had already been diagnosed with RTH-α and nine patients could not be reached. Subsequently, clinical evaluation, biochemical assessment, and THRA sequencing analysis were conducted on 32 children. The findings were compared with those of the known RTH-α patients in our unit. RESULTS: The median age of the patients was 5.7 (5.1-7.4) years, and 22 of them were males (69%). The main reasons for assessment in paediatric neurology clinics were autism spectrum disorder (n = 12, 38%), epilepsy (n = 11, 34%), and delay in developmental stages (n = 8, 25%). Constipation was present in five of the cases (16%), while the closure of the anterior fontanelle and tooth eruption were delayed in two cases (6%) and one case (3%), respectively. The median length/height and weight standard deviation (SD) scores were 0.3 [(-0.8)-(1.1)] and -0.1 [(-0.8)-(0.3)], respectively. The median fT3, fT4, and TSH levels were 4.6 (4.2-5.0) pg/mL, 0.9 (0.8-1.0) ng/dL, and 2.2 (1.8-3.1) uIU/mL, respectively. Thirteen of the patients (41%) had high fT3 levels, while none of them had low fT4 levels. The normo- or macrocytic anaemia rate was 47% (normocytic/macrocytic, n = 8/7) at the time of reassessment. Serum creatine kinase (CK) was elevated in five patients (16%; one had anaemia). None of the subjects had a pathological variant in THRA. Known RTH-α patients had significantly lower median height SD score, higher rates of delayed tooth eruption and closure of the anterior fontanelle, lower haemoglobin levels, and higher mean corpuscular volume (MCV) and CK levels as compared to those found without RTH-α. CONCLUSIONS: This approach found one known patient with RTH-α but did not reveal any new cases. Notably, normo- or macrocytic anaemia did not persist in nearly half of the screened patients. A screening strategy that takes clinical findings and prominent laboratory features suggestive of RTH-α into account could lower unnecessary genetic analysis of THRA in patients presenting with neurological problems.


Asunto(s)
Anemia Macrocítica , Trastorno del Espectro Autista , Masculino , Niño , Humanos , Preescolar , Femenino , Tiroxina , Triyodotironina , Hormonas Tiroideas , Pruebas de Función de la Tiroides , Tirotropina
2.
Pediatr Cardiol ; 45(2): 228-239, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37544952

RESUMEN

INTRODUCTION: Aromatase inhibitors (AIs) are increasingly used in children and adolescents to augment adult height. The aim of this study was to investigate the effects AIs have on cardiac morphology, functions and their relation to several metabolic parameters in adolescent boys. METHODS: Three groups matched for sex (boys, n = 67), age (median age 13.5 years), weight, height, body mass index, and puberty stages were enrolled: (i) Group 1: 23 patients using AIs (only AI (n = 6) or in combination with growth hormone (GH) (n = 17)) for at least 6 months; (ii) Group 2: 22 patients using only GH, and (iii) Group 3: 22 healthy boys. Two-dimensional, M-mode conventional Doppler and tissue Doppler examinations of the left ventricle (LV) were performed. Bioelectrical bioimpedance analyses was conducted and follicle-stimulating hormone, luteinizing hormone, total testosterone, lipid, and hemogram parameters were obtained. RESULTS: Patients in Group 1 had significantly higher serum total testosterone (p < 0.001) and hemoglobin (p < 0.001) levels, fat free mass (p = 0.005), LV mass (LVM) (p = 0.002), as well as increased LV posterior wall diameter (LVPWD) (p = 0.002), interventricular septum diameter (IVSD) (p = 0.019), and myocardial systolic wave velocity (Sm) (p = 0.020) compared to the two other control groups. No significant differences were observed in terms of diastolic and systolic functions and lipid profiles (p > 0.05). There were positive correlations between total testosterone, hemoglobin levels, LVM, LVPWD and IVSD (p < 0.05). CONCLUSION: Increased LVM, LVPWD, IVSD and Sm of patients receiving AI therapy in comparison to the control groups, and the significant correlations of these parameters with total testosterone and hemoglobin levels were determined as potential side effects of AIs. These findings emphasize the need of routine cardiac follow-up in patients using AIs.


Asunto(s)
Enfermedades Cardiovasculares , Hormona de Crecimiento Humana , Masculino , Niño , Adulto , Humanos , Adolescente , Inhibidores de la Aromatasa/efectos adversos , Testosterona , Lípidos , Hemoglobinas , Enfermedades Cardiovasculares/inducido químicamente , Enfermedades Cardiovasculares/epidemiología
3.
Klin Padiatr ; 2023 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-38049102

RESUMEN

AIM: We aimed to describe the clinical characteristics of patients with congenital combined pituitary hormone deficiency (CPHD) and evaluate the first-year growth responses of individuals with CPHD and isolated growth hormone deficiency (IGHD) in order to establish the influence of other hormone deficiencies on growth response. PATIENTS AND METHODS: This retrospective study was conducted in four tertiary care centers in Turkey. The records of patients diagnosed with CPHD (n=39) and severe IGHD (n=50) were collected. Cases with acquired lesions or chronic diseases were not included in the study. Data are presented as median (interquartile range). RESULTS: Among 39 patients (13 females; 33%) with a diagnosis of CPHD, the majority of patients (64%) presented initially with combined deficits at baseline examination, whereas isolated deficiencies (36%) were less prevalent. Among all patients with GH deficiency, TSH, ACTH, FSH/LH, and ADH deficiencies were present in 94%, 74%, 44%, and 9% of patients, respectively. Patients with CPHD were diagnosed at a younger age (4.9 (8.4) vs. 11.6 (4.1), p<0.001, respectively) and had lower peak GH concentrations (0.4 (1.8) vs. 3.7 (2.9), p<0.001, respectively) than patients with IGHD. Patients with IGHD and CPHD had similar first-year growth responses (Δheight SD score of 0.55 (0.63) vs. 0.76 (0.71), respectively, p=0.45). CONCLUSIONS: We established the nature and timing of numerous hormonal deficits emerging over time. We also identified that the existence of CPHD did not hinder growth response.

4.
Connect Tissue Res ; 63(4): 349-358, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-34107839

RESUMEN

BACKGROUND: Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile bones. There are conflicting results about genotype-phenotype correlations and efficiency of bisphosphonate treatment in this disorder. AIM: We aimed to evaluate the clinical, genetic characteristics, and long-term follow-up results of children and adolescents with OI. MATERIALS AND METHODS: A two-center retrospective study was conducted using demographic, clinical, and genetic data obtained from the medical records of the patients. RESULTS: Twenty-nine patients (62% male, median age; 3.6 years) with OI diagnosis from 26 families were included in the study. Thirteen different variants (nine were novel) were described in 16 patients in COL1A1, COL1A2, and P3H1 genes. Our siblings with homozygous P3H1 variants had a severe phenotype with intrauterine and neonatal fractures. Twenty-two patients were treated with bisphosphonates (17 of them with pamidronate, five with alendronate) with a median duration of 3.0 (1.6-4.8) years. Eleven patients (50%) suffered from fractures after the treatment. Haploinsufficiency variants in COL1A1 caused a milder skeletal phenotype with less fracture count and better treatment outcomes than structural variants. When compared with the anthropometric measurements at the initial diagnosis time, height Z-scores were lower on the last clinical follow-up (p = 0.009). CONCLUSIONS: We could not find an obvious genotype-phenotype correlation in Turkish OI patients with COL1A1 or COL1A2 variants. Treatment with pamidronate was effective in reducing fracture counts, without any long-term adverse effects.


Asunto(s)
Enfermedades del Tejido Conjuntivo , Fracturas Óseas , Osteogénesis Imperfecta , Adolescente , Niño , Preescolar , Colágeno Tipo I/genética , Femenino , Fracturas Óseas/genética , Humanos , Masculino , Mutación/genética , Osteogénesis Imperfecta/diagnóstico , Osteogénesis Imperfecta/tratamiento farmacológico , Osteogénesis Imperfecta/genética , Pamidronato/uso terapéutico , Fenotipo , Estudios Retrospectivos , Resultado del Tratamiento
5.
Int J Obes (Lond) ; 45(9): 2064-2073, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34091593

RESUMEN

BACKGROUND/OBJECTIVES: In recent years, oxytocin (OXT) and polymorphisms in the oxytocin receptor (OXTR) gene have been reported to play roles in obesity pathogenesis. However, there was no study evaluating OXTR gene variants in childhood obesity. The aim of the study was to investigate the relation of OXTR gene polymorphisms and serum OXT levels with metabolic and anthropometric parameters in obese and healthy adolescents. SUBJECTS/METHODS: The study was a multi-centered case-control study, which was conducted on obese and healthy adolescents aged between 12 and 17 years. Serum OXT and leptin levels were measured, and OXTR gene variants were studied by qPCR (rs53576) and RFLP (rs2254298) methods. RESULTS: A total of 250 obese and 250 healthy adolescents were included in this study. In the obese group, serum OXT level was lower and leptin level was higher than the control group. In the obese group, frequencies of homozygous mutant (G/G) and heterozygous (A/G) genotypes for rs53576 polymorphism were higher than the control group. Homozygous mutant(G/G) and heterozygous (A/G) genotypes for rs53576 polymorphism were found to increase the risk of obesity compared to the wild type (A/A) genotype [OR = 6.05 and OR = 3.06; p < 0.001, respectively]. In patients with homozygous mutant (G/G) and heterozygous (A/G) genotype for rs53576 polymorphism, serum OXT levels were lower than the wild type (A/A) genotype. In the obese group, hyperphagia score was higher than the control group and correlated negatively with serum OXT level. CONCLUSIONS: This study revealed that low serum OXT level, which is associated with hyperphagia may be an underlying cause for obesity in adolescents. For rs53576 polymorphism of the OXTR gene, obesity risk is higher in patients with homozygous mutant(G/G) and heterozygous(A/G)genotypes.


Asunto(s)
Hiperfagia/complicaciones , Oxitocina/análisis , Obesidad Infantil/complicaciones , Polimorfismo Genético , Receptores de Oxitocina/genética , Adolescente , Estudios de Casos y Controles , Femenino , Humanos , Hiperfagia/sangre , Masculino , Oxitocina/sangre , Obesidad Infantil/sangre
6.
Endocr Res ; 46(3): 140-147, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33900130

RESUMEN

Background: In patients with growth hormone (GH) deficiency, the prediction of adult height before initiation of GH treatment can be helpful to guide clinicians and families. However, data regarding the effectiveness of prediction methods in such patients are limited.Objective: We aimed to investigate the accuracy of the three most used adult height prediction methods [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their results with the near-adult height (NAH) data of children treated with GH.Methods: A single-center retrospective study was conducted including patients treated with somatotropin due to GH deficiency. Bone age radiographs were reread by three authors. Adult height predictions were made using BP, RWT, and TW2 methods for each patient.Results: Forty-nine patients with GH deficiency [median age at diagnosis 10.8 (9.2-12.0) years, 63.3% girls, 69.4% prepubertal] were included. Median differences between predicted adult height (PAH) and NAH standard deviation (SD) scores were -0.5, 0.0, and 0.3 for BP, RWT, and TW2 methods, respectively. The rates of PAH within ±1 SD score of NAH were 54.7%, 62.3%, and 77.4% for BP, TW2, and RWT methods, respectively. RWT was the most accurate method in girls, however, it showed a similar efficiency with TW2 in prepubertal patients or those with delayed bone age between 1-2 years, independent of gender.Conclusions: We found that RWT and TW2 methods may be preferable rather than the BP method for predicting adult height in patients with a diagnosis of GH deficiency.


Asunto(s)
Estatura , Enanismo/diagnóstico , Hormona de Crecimiento Humana/deficiencia , Niño , Enanismo/tratamiento farmacológico , Femenino , Hormona de Crecimiento Humana/administración & dosificación , Humanos , Masculino , Pronóstico , Estudios Retrospectivos
7.
Eat Weight Disord ; 26(8): 2555-2562, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33548051

RESUMEN

PURPOSE: Binge eating disorder (BED) is characterized by frequent and persistent overeating episodes of binge eating without compensatory behaviors. The aim was to evaluate regional gray matter volume (GMV) abnormalities and appetite-regulating hormone levels (NPY and Leptin) in obese subjects either with or without BED compared to healthy controls (HC). METHODS: Twenty-six obese patients with BED, 25 obese patients without BED and 27 healthy subjects as an age-matched control group with neuroimaging and appetite-regulating hormone levels were found eligible for regional GMV abnormalities. A structural magnetic resonance scan and timely blood samples were drawn to assess the appetite-regulating hormone levels. RESULTS: The BED obese patients had a greater GMVs of the right medial orbitofrontal cortex (OFC) and the left medial OFC compared to the non-BED obese patients. BED patients were characterized by greater GMV of the left medial OFC than HCs. Relative to the HCs, higher serum NPY levels were found in BED obese and non-BED obese groups. Serum leptin levels (pg/mL) had positively correlations with GMV in right medial OFC, left medial OFC, right lateral OFC, and left anterior cingulate cortex. CONCLUSION: Among the reward processing network, which is largely associated with feeding behaviours in individuals with obesity and binge eating disorder, the OFC volumes was correlated with serum leptin concentrations. The results of our study may provide a rationale for exploring the link between regional grey matter volumes and appetite-related hormone levels in people with BED. LEVEL OF EVIDENCE: Level III, case-control analytic study.


Asunto(s)
Trastorno por Atracón , Obesidad Infantil , Adolescente , Apetito , Trastorno por Atracón/diagnóstico por imagen , Sustancia Gris/diagnóstico por imagen , Humanos , Leptina , Imagen por Resonancia Magnética
8.
Turk J Med Sci ; 51(1): 231-237, 2021 02 26.
Artículo en Inglés | MEDLINE | ID: mdl-33155789

RESUMEN

Background/aim: Aldosterone is a mineralocorticoid that secreted from adrenal glands and a known factor to increase magnesium excretion by direct and indirect effects on renal tubular cells. Although the frequency of hypomagnesemia was found to be approximately 5% in adult studies, there is no study in the literature investigating the frequency of hypomagnesemia in children by using fludrocortisone, which has a mineralocorticoid activity. Materials and methods: A multi-center retrospective study was conducted, including children who were under fludrocortisone treatment for primary adrenal insufficiency and applied to participant pediatric endocrinology outpatient clinics. Results: Forty-three patients (58.1% male, 41.9% prepubertal) included in the study, whose median age was 9.18 (0.61-19) years, and the most common diagnosis among the patients was a salt-wasting form of congenital adrenal hyperplasia (67.4%). Mean serum magnesium level was 2.05 (±0.13) mg/dL, and hypomagnesemia was not observed in any of the patients treated with fludrocortisone. None of the patients had increased urinary excretion of magnesium. Conclusion: Unlike the studies performed in adults, we could not find any evidence of magnesium wasting effect of fludrocortisone treatment with normal or even high doses in children and adolescents.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Fludrocortisona , Deficiencia de Magnesio , Magnesio , Hiperplasia Suprarrenal Congénita/sangre , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Niño , Monitoreo de Drogas/métodos , Femenino , Fludrocortisona/administración & dosificación , Fludrocortisona/efectos adversos , Humanos , Transporte Iónico/efectos de los fármacos , Magnesio/sangre , Magnesio/orina , Deficiencia de Magnesio/diagnóstico , Deficiencia de Magnesio/etiología , Deficiencia de Magnesio/prevención & control , Masculino , Mineralocorticoides/administración & dosificación , Mineralocorticoides/efectos adversos , Eliminación Renal/efectos de los fármacos , Estudios Retrospectivos , Medición de Riesgo , Resultado del Tratamiento
9.
Turk J Med Sci ; 51(4): 1738-1746, 2021 08 30.
Artículo en Inglés | MEDLINE | ID: mdl-33486914

RESUMEN

Background/aim: We aimed to determine the presence of subclinical atherosclerosis using carotid intima-media thickness (CIMT) and biochemical parameters in children and adolescents with congenital adrenal hyperplasia (CAH). Materials and methods: Thirty-four patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency on regular glucocorticoid treatment for ≥3 years and 31 healthy subjects were included in the study. The patients were divided into two groups according to the degree of control of the clinic, laboratory, and radiological parameters as a) "uncontrolled" [n= 22; with increased height velocity (HV) standard deviation score (SDS) (≥2 SDS), advanced bone age, serum 17-OH progesterone <2.0 and ≥10.0 ng/mL or androstenedione <0.3 and ≥ 3.0 ng/mL] or b) "controlled" [n= 12; with HV SDS < 2, bone age (BA)/ chronologic age (CA) ratio < 1.2, serum 17-OH progesterone between 2 and 10 ng/mL and androstenedione between 0.3 and 3.0 ng/mL]. Ultrasonographic examination of carotid artery was performed by the same radiologist using a B-mode ultrasound system. Results: There was no significant difference between the CAH and control groups in terms of median (IQR) CIMT values [0.47 (0.05) mm and 0.47 (0.07) mm, respectively; p > 0.05]. When subgroup comparisons were done in terms of median (IQR) CIMT values, there was no significant difference among the controlled, uncontrolled, and healthy control groups [0.45 (0.03) mm, 0.47 (0.04) mm, 0.47 (0.07) mm, respectively; p> 0.05]. In addition, CIMT levels were similar according to sex and disease control status. Conclusion: In this study, the CIMT values of CAH cases were similar to those of healthy subjects.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Arterias Carótidas/diagnóstico por imagen , Grosor Intima-Media Carotídeo , Adolescente , Androstenodiona/sangre , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Progesterona/sangre , Estudios Prospectivos , Factores de Riesgo , Ultrasonografía
10.
Pediatr Diabetes ; 21(7): 1249-1255, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32662200

RESUMEN

BACKGROUND: Hypoglycemia is the most common and severe complication of insulin treatment during the management of type 1 diabetes mellitus (T1DM). Despite its importance, there is a lack of data about the efficacy and superiority of the carbohydrate sources used in hypoglycemia management in children and adolescents. OBJECTIVE: We aimed to compare the effectiveness of honey, fruit juice, and sugar cubes as simple carbohydrates used in the primary treatment of hypoglycemia in children and adolescents with T1DM, who attended a diabetes summer camp. METHODS: A prospective randomized study was performed in a 5-days-long diabetes summer camp. Three different types of simple carbohydrates; sugar cubes, honey, or fruit juice were randomly given for the treatment of hypoglycemia and the recovery results in the three groups were compared. RESULTS: About 32 patients (53.1% male, mean age 12.9 ± 1.9 years) were included and 158 mild hypoglycemic episodes were observed. Sugar cubes, honey, and fruit juice were given in 46 (29.1%), 60 (37.9%), and 52 (33%) events, respectively. We found that honey and fruit juice had similar efficiency in recovering hypoglycemia in 15 minutes with a rate of 95% and 98%, respectively. However, sugar cubes had a significantly lower impact on treatment of hypoglycemia than the others, with a recovery rate of 84.7% at 15 minutes. CONCLUSIONS: This study showed, for the first time, that honey and fruit juice were more effective in treating hypoglycemia than sugar cubes, and can be preferred in treating hypoglycemic events in children and adolescents with T1DM.


Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Carbohidratos de la Dieta/uso terapéutico , Jugos de Frutas y Vegetales , Miel , Hipoglucemia/dietoterapia , Adolescente , Glucemia , Niño , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/terapia , Femenino , Humanos , Hipoglucemia/sangre , Hipoglucemia/etiología , Masculino , Estudios Prospectivos , Factores de Tiempo
11.
Cardiol Young ; 29(3): 319-324, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30675832

RESUMEN

AimThe present study aimed to evaluate systolic and diastolic myocardial function in children and adolescents with congenital adrenal hyperplasia. METHODS: The study included 44 children with the diagnosis of classic congenital adrenal hyperplasia and 39 healthy children whose age, pubertal status, and gender were similar to those of the patient group. Anthropometric parameters and 17-hydroxyprogesterone levels were measured, and bone age was calculated. The average daily hydrocortisone dose was calculated over the last 1-year file records. Hyperandrogenic state was defined according to bone age SD score (⩾2) and 17-hydroxyprogesterone levels (>10 ng/ml). Echocardiographic examinations were assessed by conventional two-dimensional Doppler echocardiography and tissue Doppler imaging. RESULTS: Patients had higher morphological parameters, such as left ventricular end-systolic diameter, interventricular septal thickness at end diastole, left ventricular posterior wall thickness at end diastole, left ventricular mass and index, than the control group (p<0.05). On pulsed-wave and tissue Doppler echocardiography, significant subclinical alterations were observed in systolic (isovolumic contraction time), diastolic (isovolumic relaxation time), and global left ventricular functional (myocardial performance index) parameters in the congenital adrenal hyperplasia group compared to the control group (p<0.05). In partial correlation analyses, after controlling the effect of hyperandrogenism, the mean hydrocortisone dosage was positively correlated with isovolumic relaxation time in congenital adrenal hyperplasia group (p<0.05). CONCLUSION: This study demonstrated that the patients with congenital adrenal hyperplasia are at risk for left ventricular hypertrophy, systolic and diastolic myocardial subclinical alterations. Overtreatment may be responsible for the increased risk of myocardial dysfunction in patients with congenital adrenal hyperplasia.


Asunto(s)
Hiperplasia Suprarrenal Congénita/complicaciones , Ventrículos Cardíacos/fisiopatología , Hidrocortisona/uso terapéutico , Hipertrofia Ventricular Izquierda/etiología , Función Ventricular Izquierda/fisiología , 17-alfa-Hidroxiprogesterona/sangre , Hiperplasia Suprarrenal Congénita/sangre , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Biomarcadores/sangre , Niño , Diástole , Ecocardiografía Doppler de Pulso , Femenino , Glucocorticoides/uso terapéutico , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Hipertrofia Ventricular Izquierda/diagnóstico , Hipertrofia Ventricular Izquierda/fisiopatología , Masculino , Sístole
12.
Pediatr Diabetes ; 19(5): 1000-1006, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29484801

RESUMEN

BACKGROUND: To investigate serum levels of brain injury markers in diabetic ketoacidosis (DKA) and the relation of these markers with clinical and radiological findings of brain injury and laboratory results. METHODS: Twenty-nine patients with DKA, 30 with type 1 diabetes mellitus (T1DM), and 35 healthy children were included. Clinical and laboratory findings, and the Glasgow Coma Scale (GCS) were recorded. In the DKA group, neuron-specific enolase (NSE), S100 calcium-binding protein B (S100B) and glial fibrillary acidic protein (GFAP) levels were measured at baseline and 6 and 12 hours after treatment. Magnetic resonance imaging was performed in the DKA group to demonstrate any brain injury. RESULTS: No clinical or radiological findings of brain injury were found in any of the patients with DKA. In the DKA group, S100B was significantly higher than the healthy control and T1DM groups, while GFAP and NSE levels were not different from controls and T1DM patients. No significant differences were found in GFAP, NSE and S100B levels according to severity of DKA, diabetes duration and GCS. CONCLUSION: NSE and GFAP levels do not increase in DKA patients without overt brain injury. Elevated levels of S100B, which is also synthesized from non-neuronal tissues, might arise from peripheral sources. A lack of concurrent increase in serum levels of these brain injury markers might result from the yet intact blood brain barrier or a true absence of neuronal damage. In order to reveal subclinical brain injury related to DKA, there is a need for studies concurrently assessing neurocognitive functions.


Asunto(s)
Lesiones Encefálicas/etiología , Cetoacidosis Diabética/complicaciones , Proteína Ácida Fibrilar de la Glía/sangre , Fosfopiruvato Hidratasa/sangre , Subunidad beta de la Proteína de Unión al Calcio S100/sangre , Adolescente , Biomarcadores/sangre , Lesiones Encefálicas/sangre , Estudios de Casos y Controles , Niño , Cetoacidosis Diabética/sangre , Femenino , Humanos , Masculino
13.
Am J Med Genet A ; 170A(4): 942-8, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26788866

RESUMEN

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.


Asunto(s)
Cariotipo Anormal , Antropometría , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Fenotipo , Adulto Joven
14.
J Endocrinol Invest ; 37(9): 799-804, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24920280

RESUMEN

PURPOSE: The aim of the presented study was to evaluate the prevalence of isolated hyperthyrotropinemia (IH) in obese children and the relation between anthropometric and metabolic parameters. METHODS: Hospital records of the children, who presented to the Pediatric Endocrinology outpatient clinic of our institution with obesity, and age and gender-matched healthy children, who had undergone thyroid function test for any reason were retrospectively reviewed. RESULTS: The prevalence of IH was significantly higher in the obese group than in the controls (9.2 and 3.8 %, respectively). Body mass index-standard deviation score (BMI-SDS), thyroid-stimulating hormone (TSH), lipid parameters were significantly different in the obese group than in the control group. A positive correlation between TSH and BMI-SDS and negative correlation between TSH and free T4 (fT4) levels were found in obese subjects. Stepwise multiple linear regression analysis confirmed that BMI-SDS, fT4 and triglyceride levels were the strongest independent variables correlated with TSH level in obese subjects (r (2) = 0.046, p = 0.001). CONCLUSIONS: IH prevalence is higher in obese children as compared to healthy children and the increase in TSH level correlates negatively with serum fT4 and positively with BMI-SDS and triglyceride levels in obese children.


Asunto(s)
Índice de Masa Corporal , Dextrotiroxina/sangre , Obesidad Infantil/metabolismo , Tirotropina/sangre , Triglicéridos/sangre , Adolescente , Niño , Femenino , Humanos , Masculino , Obesidad Infantil/sangre , Estudios Retrospectivos , Pruebas de Función de la Tiroides
15.
Artículo en Inglés | MEDLINE | ID: mdl-38683021

RESUMEN

Delayed puberty is defined as the lack of development of secondary sex characteristics in childhood. Based on a review of the literature, delayed puberty can be divided into three main categories: (i) hypergonadotropic hypogonadism (congenital and acquired), (ii) permanent hypogonadotropic hypogonadism (congenital and acquired), and (iii) transient hypogonadotropic hypogonadism [constitutional delay of growth and puberty (CDGP) and functional hypogonadotropic hypogonadism (FHH)]. CDGP is the most common cause of hypogonadism in both males and females, accounting for 60% and 30% respectively. Testosterone is the primary treatment for male hypogonadism, while estrogen and progesterone are used for female hypogonadism. However, in recent years, physiological induction therapy protocols such as human chorionic gonadotropin (hCG) monotherapy, hCG + Follicle-stimulating hormone combined therapy, and gonadotropin releasing hormone infusion have been recommended for the treatment of hypogonadotropic hypogonadism to increase long-term fertility success. There is no clear consensus on treatment protocols for physiological induction treatment and its effect on fertility. This review will discuss the clinical approach to hypogonadism, as well as traditional and physiological induction protocols.

16.
J Clin Res Pediatr Endocrinol ; 16(2): 185-191, 2024 05 31.
Artículo en Inglés | MEDLINE | ID: mdl-38347685

RESUMEN

Objective: The hypothalamic-pituitary-gonadal axis is active during minipuberty, the timing of which coincides with infantile colic. To the best of our knowledge, the relationship between these entities has not been previously investigated. Methods: Saliva samples were collected from 15- to 60-day-old term infants (n=139) between 9 am and 5 pm. Group 1 included infants with infantile colic (n=68, 54.4% female) while the remaining healthy infants constituted Group 2 (n=71, 47.9% female). Salivary levels of estradiol (Esal) in females and testosterone (Tsal) in males were measured by ELISA in duplicate. Results: The median (25th-75th centile) age and birth week for all infants were 33 (29-43) days and 39 (38.1-40) weeks, respectively. Levels of Tsal in males [Group 1, 73.35 (59.94-117.82) pg/mL vs Group 2, 77.66 (56.49-110.08) pg/mL, p=0.956] and Esal in females [Group 1, 3.91 (2.76-5.31) pg/mL vs Group 2, 4.03 (1.63-12.1) pg/mL, p=0.683] were similar. However, in subjects with infantile colic (Group 1), Esal and body mass index (BMI) standard deviation scores of females were slightly correlated (Group 1, rs= 0.393, p=0.016 vs. Group 2, rs= 0.308, p=0.076) and there was a significant correlation between the sampling time and Tsal in males (Group 1, rs= 0.469, p=0.009 vs. Group 2, rs= -0.005, p=0.976). Conclusion: Random salivary sex steroid levels were similar in infants with and without infantile colic. However, in subjects with infantile colic, Esal levels in females were positively correlated with BMI and Tsal levels were higher later in the day among males. Thus, sex steroid production may be altered during minipuberty in subjects with infantile colic.


Asunto(s)
Cólico , Estradiol , Saliva , Testosterona , Humanos , Masculino , Femenino , Cólico/metabolismo , Lactante , Saliva/química , Saliva/metabolismo , Testosterona/análisis , Testosterona/metabolismo , Recién Nacido , Estradiol/análisis , Estradiol/sangre , Estradiol/metabolismo , Estudios de Casos y Controles , Hormonas Esteroides Gonadales/análisis , Hormonas Esteroides Gonadales/metabolismo
17.
Pediatr Diabetes ; 14(3): 189-95, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23346951

RESUMEN

BACKGROUND: Nesfatin-1, a recently discovered anorexigenic neuropeptide, is expressed in several tissues including pancreatic islet cells and central nervous system. This peptide seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis. OBJECTIVE: We aimed to investigate the relation of serum nesfatin-1 level with metabolic and anthropometric parameters in obese children. METHODS: The study included obese children with a body mass index (BMI) above the 95th percentile and healthy children with a BMI below the 85th percentile. The healthy and obese subjects had similar age and gender distribution. Fasting serum glucose, insulin, lipid profile, and nesfatin-1 levels were measured to evaluate metabolic parameters. RESULTS: Obese group (n = 37) had significantly higher BMI, BMI-SDS (standard deviation score of BMI), triglyceride, insulin, and insulin resistance index by the homeostasis model assessment, systolic and diastolic blood pressure values compared with the control group (n = 31) (p < 0.05). Serum nesfatin-1 level of the obese subjects was significantly lower than that of the control subjects (p = 0.001). No statistically significant difference was found when nesfatin-1 levels were compared among obese patients regarding the presence of insulin resistance (p = 0.202). In the obese group, nesfatin-1 level was negatively correlated with BMI-SDS, but not with insulin resistance index (p = 0.02 and p = 0.361, respectively). CONCLUSIONS: This is the first study to evaluate nesfatin-1 levels in relation with anthropometric and metabolic parameters in obese patients who had significantly lower nesfatin-1 levels. Our results underline that nesfatin-1 may play an important role in regulation of food intake in obese individuals.


Asunto(s)
Proteínas de Unión al Calcio/sangre , Proteínas de Unión al ADN/sangre , Resistencia a la Insulina , Proteínas del Tejido Nervioso/sangre , Obesidad/sangre , Adolescente , Glucemia/análisis , Índice de Masa Corporal , Niño , Ensayo de Inmunoadsorción Enzimática , Femenino , Intolerancia a la Glucosa/epidemiología , Intolerancia a la Glucosa/etiología , Prueba de Tolerancia a la Glucosa , Humanos , Hipercolesterolemia/epidemiología , Hipercolesterolemia/etiología , Hipertensión/epidemiología , Hipertensión/etiología , Hipertrigliceridemia/epidemiología , Hipertrigliceridemia/etiología , Insulina/sangre , Lípidos/sangre , Masculino , Nucleobindinas , Obesidad/metabolismo , Obesidad/fisiopatología , Turquía/epidemiología
18.
Am J Emerg Med ; 31(3): 524-8, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23380091

RESUMEN

INTRODUCTION: The aim of this study was to evaluate the role of S100B protein and neuron-specific enolase (NSE) in children with carbon monoxide (CO) poisoning. METHODS: In this prospective, case-controlled study, children with CO poisoning were recruited. Patient demographics features and Glasgow Coma Scale (GCS) were recorded. Blood samples were collected from all children with CO poisoning at their admission to the hospital and at 3 and 6 hours after admission. Levels of NSE and S100B were measured. The control group consisted of age-matched healthy children. RESULTS: A total of 30 children with CO poisoning (mean age, 7.88 ± 3.75 years; 17 boys) and 30 healthy children (mean age, 8.16 ± 3.05 years; 7 boys) were enrolled in the study. Mean carboxyhemoglobin level (%) measured at admission was 30.05 ± 8.00. Serum NSE levels of the children with CO poisoning were significantly higher than those of children from the control group at 0 hour and also at 3 and 6 hours (P < .001, P = .001, and P = .005, respectively). Serum S100B protein levels were similar between the 2 groups at 0 and 3 and 6 hours (P > .05). Serum NSE levels of patients with CO poisoning demonstrated a negative correlation with the admission GCS scores. No correlation was found between GCS scores and S100B protein levels. CONCLUSION: We have shown that NSE levels increase in CO-associated hypoxic brain damage in accordance with clinical findings. We have also found that, contrary to the studies conducted on adults, S100B protein levels do not increase in response to hypoxic brain damage.


Asunto(s)
Intoxicación por Monóxido de Carbono/sangre , Factores de Crecimiento Nervioso/sangre , Fosfopiruvato Hidratasa/sangre , Proteínas S100/sangre , Adolescente , Biomarcadores/sangre , Intoxicación por Monóxido de Carbono/diagnóstico , Carboxihemoglobina/metabolismo , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Escala de Coma de Glasgow , Humanos , Lactante , Masculino , Estudios Prospectivos , Subunidad beta de la Proteína de Unión al Calcio S100
19.
J Pediatr Endocrinol Metab ; 26(1-2): 1-11, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23327784

RESUMEN

Pituitary adenoma is the most common cause of hyperprolactinemia, which is a rare endocrine disorder encountered in pediatric patient care. Epidemiological and clinical information about hyperprolactinemia in childhood and adolescence is limited. Clinical signs of hyperprolactinemia are very heterogeneous. In girls, disturbances in menstrual function and galactorrhea may be seen, whereas in boys, headache, visual disturbances, delayed pubertal development and hypogonadism are often present. Owing to the ease of ordering a serum prolactin measurement, an evidence-based, cost-effective approach to the management of this endocrine disorder is required. Before a diagnosis of hyperprolactinemia is made, drug use, renal insufficiency, hypothyroidism, and parasellar tumors should be excluded. The main objectives of treatment are normalization of prolactin level, adenoma shrinkage, and recovery from clinical signs related to hyperprolactinemia. In patients with microadenoma, invasive or non-invasive macroadenoma, and even in patients with visual field defects, dopamine agonists are the first-line treatment. Surgical treatment is indicated in patients who are unresponsive or intolerant to medical treatment or who have persistent neurological signs. Radiotherapy should be considered as a supportive treatment for patients in whom surgery fails or medical response is not achieved.


Asunto(s)
Técnicas de Diagnóstico Endocrino , Hiperprolactinemia/diagnóstico , Adolescente , Edad de Inicio , Algoritmos , Niño , Diagnóstico Diferencial , Femenino , Humanos , Hiperprolactinemia/epidemiología , Hiperprolactinemia/etiología , Hiperprolactinemia/terapia , Masculino
20.
J Clin Res Pediatr Endocrinol ; 15(3): 268-275, 2023 08 23.
Artículo en Inglés | MEDLINE | ID: mdl-36974729

RESUMEN

Objective: Both body weight (BW)- and body surface area (BSA)-based dosing regimens have been recommended for growth hormone (rhGH) replacement. The aim was to compare the two regimens to determine if either resulted in inadequate treatment depending on anthropometric factors. Methods: The retrospective study included children diagnosed with idiopathic isolated growth hormone deficiency. BW-based dosing in mcg/kg/day was converted to BSA in mg/m2/day to determine the equivalent amounts of the given rhGH. Those with a BW-to-BSA ratio of more than 1 were allocated to the "relatively over-dosed group", while the remaining patients with a ratio of less than 1 were assigned to the "relatively under-dosed" group. Patients with a height gain greater than 0.5 standard deviation score (SDS) at the end of one year were classified as the height gain at goal (HAG), whereas those with a height gain of less than 0.5 SDS were assigned as the height gain not at goal (NHAG). Results: The study included 60 patients (18 girls, 30%). Thirty-six (60%) patients were classified as HAG. The ratio of dosing based on BW-to-BSA was positively correlated both with the ages and body mass index (BMI) levels of the patients, leveling off at the age of 11 at a BMI of 18 kg/m2. The relative dose estimations (over- and under-dosed groups) differed significantly between the patients classified as HAG or NHAG. Fifty-six percent of NHAG compared to 44% of HAG patients received relatively higher doses, while 79% of HAG compared to 21% of NHAG received relatively lower doses (p=0.006). When the patients were subdivided according to their pubertal status, higher doses were administrated mostly to the pubertal patients in both the NHAG and HAG groups. In the pre-pubertal age group, 73% of NHAG compared to 27% of HAG received relatively higher doses, while 25% of NHAG compared to 75% of HAG received relatively lower doses (p=0.01). Conclusion: Dosing based on BW may be preferable in both prepubertal and pubertal children who do not show adequate growth responses. In prepubertal children, relatively lower doses calculated based on BW rather than BSA provide similar efficacy at lower costs.


Asunto(s)
Hormona del Crecimiento , Hormona de Crecimiento Humana , Niño , Femenino , Humanos , Estudios Retrospectivos , Superficie Corporal , Peso Corporal , Estatura
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