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INTRODUCTION: Diabetic ketoacidosis (DKA) is an important complication of type 1 diabetes mellitus (T1DM) which is worsened when the diagnosis of T1DM is delayed. The aim of this study was to evaluate the presentation patterns, severity, autoantibody status, and seasonal variability of newly diagnosed T1DM patients during the pandemic period of 2 years compared to those in the pre-pandemic period. METHODS: In this single tertiary center retrospective cohort study, newly diagnosed T1DM patients were grouped as pre-pandemic and pandemic period. Age, gender, the month of diagnosis, hemoglobin A1c, venous blood gas parameters, duration of symptoms, glutamic-acid-decarboxylase-antibody (anti-GAD), islet-cell antibody (ICA), and insulin autoantibody levels were recorded. The data obtained were compared between the groups. RESULTS: Number of patients presenting with DKA was significantly higher during the pandemic period (92 [65.7%] vs. 62 [40.8%] patients, p < 0.001). In terms of clinical severity of DKA, pH, and HCO3 levels were lower during the pandemic period (p < 0.001), while the number of patients presenting with severe DKA was significantly higher during the pandemic period (41 [44.6%] vs. 17 [27.4%] patients, p = 0.031). ICA positivity was significantly higher in patients admitted during the pandemic period (47 [36.4%] vs. 21 patients [16.9%], p < 0.001), especially in the second year of the pandemic (p < 0.001). Anti-GAD-ICA co-positivity was significantly higher in patients admitted during the pandemic period and also in second year of the pandemic (p < 0.001). CONCLUSION: DKA rates increased in newly diagnosed T1DM cases during the pandemic. Despite the relaxation of bans, the second year of the pandemic also saw increased rates of DKA and severe DKA compared to the pre-pandemic period. The significantly increased ICA positivity in the pandemic may support the effects of COVID-19 on autoimmune T1DM.
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Autoanticuerpos , COVID-19 , Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Índice de Severidad de la Enfermedad , Centros de Atención Terciaria , Humanos , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/complicaciones , COVID-19/epidemiología , COVID-19/complicaciones , COVID-19/sangre , Masculino , Femenino , Cetoacidosis Diabética/epidemiología , Cetoacidosis Diabética/sangre , Cetoacidosis Diabética/etiología , Cetoacidosis Diabética/diagnóstico , Estudios Retrospectivos , Niño , Autoanticuerpos/sangre , Preescolar , Adolescente , SARS-CoV-2 , Pandemias , Glutamato Descarboxilasa/inmunología , Estaciones del Año , Hemoglobina Glucada/análisisRESUMEN
CONTEXT: Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity. OBJECTIVE: To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships. METHODS: Our cohort included 18 patients (LEP = 11, LEPR = 7), 8 of whom had been previously reported. A systematic literature review was conducted in July 2022. Forty-two of 47 studies on LEP/LEPR were selected. RESULTS: Of 10 new cases, 2 novel pathogenic variants were identified in LEP (c.16delC) and LEPR (c.40 + 5G > C). Eleven patients with LEP deficiency received metreleptin, 4 of whom had been treated for over 20 years. One patient developed loss of efficacy associated with neutralizing antibody development. Of 152 patients, including 134 cases from the literature review in addition to our cases, frameshift variants were the most common (48%) in LEP and missense variants (35%) in LEPR. Patients with LEP deficiency were diagnosed at a younger age [3 (9) vs 7 (13) years, P = .02] and had a higher median body mass index (BMI) SD score [3.1 (2) vs 2.8 (1) kg/m2, P = 0.02], which was more closely associated with frameshift variants (P = .02). Patients with LEP deficiency were more likely to have hyperinsulinemia (P = .02). CONCLUSION: Frameshift variants were more common in patients with LEP deficiency whereas missense variants were more common in LEPR deficiency. Patients with LEP deficiency were identified at younger ages, had higher BMI SD scores, and had higher rates of hyperinsulinemia than patients with LEPR deficiency. Eleven patients benefitted from long-term metreleptin, with 1 losing efficacy due to neutralizing antibodies.
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Hiperinsulinismo , Obesidad Infantil , Humanos , Leptina/genética , Receptores de Leptina/genética , Polimorfismo de Nucleótido Simple , Estudios Multicéntricos como AsuntoRESUMEN
Background: Kratom (Mitragyna speciosa) consumption and associated health effects have raised debates in the United States. Although most people using this herb do not experience adverse health effects associated with kratom use, medical providers should be knowledgeable of emerging substances and concurrent, sequential, or simultaneous use of other drugs which may impact healthcare recommendations and prescribing practices. Methods: The objective of this narrative review was to elucidate selected health effects associated with using kratom-either alone or with other substances. Since scientifically controlled human subjects research on kratom use is still limited, relevant case reports were also described. Results: Cardiovascular, gastrointestinal, neurological, and psychiatric effects associated with kratom use were especially notable, and in-utero exposure accompanied concern regarding a neonate's risk for developing neonatal abstinence syndrome. Our ability to identify and understand the role of this herb in kratom-associated fatalities is complicated since kratom is not routinely screened for in standard forensic toxicology. If a screening is performed, it is usually for the major alkaloid, mitragynine, as a surrogate for kratom use. In addition to lacking a standard practice of screening decedents for kratom alkaloids, the association between mortality and kratom use may be confounded by polysubstance use, adulteration of kratom products, and drug-herb interactions. Conclusions: Increasing medical awareness of this herb is vital to ensuring prompt administration of best-practice medical advice or treatment for people seeking information related to kratom use or for patients experiencing an adverse health effect that may be associated with using or withdrawing from kratom. Knowledge gained from continued surveillance and study of kratom and its associated health effects may assist in guiding clinical decision-making and preventing development of adverse health effects among people using kratom.
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PURPOSE: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. METHODS: We used next-generation sequencing to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analyzed by in situ hybridization on murine/human embryonic sections. CRISPR/Cas9 was used to generate mice carrying the p.Leu483Phe pathogenic variant in the conserved murine Rnpc3 RRM2 domain. RESULTS: We described 15 patients from 9 pedigrees with biallelic pathogenic variants in RNPC3, encoding a specific protein component of the minor spliceosome, which is associated with a hypopituitary phenotype, including severe growth hormone (GH) deficiency, hypoprolactinemia, variable thyrotropin (also known as thyroid-stimulating hormone) deficiency, and anterior pituitary hypoplasia. Primary ovarian insufficiency was diagnosed in 8 of 9 affected females, whereas males had normal gonadal function. In addition, 2 affected males displayed normal growth when off GH treatment despite severe biochemical GH deficiency. In both mouse and human embryos, Rnpc3/RNPC3 was expressed in the developing forebrain, including the hypothalamus and Rathke's pouch. Female Rnpc3 mutant mice displayed a reduction in pituitary GH content but with no reproductive impairment in young mice. Male mice exhibited no obvious phenotype. CONCLUSION: Our findings suggest novel insights into the role of RNPC3 in female-specific gonadal function and emphasize a critical role for the minor spliceosome in pituitary and ovarian development and function.
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Hipopituitarismo , Insuficiencia Ovárica Primaria , Animales , Femenino , Humanos , Hipopituitarismo/genética , Masculino , Ratones , Proteínas Nucleares/genética , Linaje , Fenotipo , Insuficiencia Ovárica Primaria/genética , Prolactina/genética , Proteínas de Unión al ARN/genéticaRESUMEN
BACKGROUND: Obesity is a significant public health problem worldwide. Vitamin deficiencies, developing due to monotype nutrition, are more likely to be observed in patients than healthy children. The present study evaluates vitamin and micronutrient levels in children and adolescents with obesity and metabolic syndrome compared to healthy controls. METHODS: The study included 73 patients with obesity, 64 patients with metabolic syndrome and 71 healthy children (control group) aged 10 to 16 years. Physical examinations were performed, and waist circumference and systolic blood pressure measurements were recorded. Fasting blood glucose, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, total cholesterol, insulin, vitamin A, vitamin E, vitamin B1, vitamin B2, vitamin B6, vitamin B12, folic acid and free carnitine levels were analyzed. The homeostatic model of assessment-insulin resistance (HOMA-IR) index was calculated and recorded. RESULTS: The mean age of all patients was 11.9±2.6 years. The serum insulin level and HOMA-IR index were found to be significantly higher in the obesity and metabolic syndrome groups. No significant difference was found between the groups in terms of vitamin A, vitamin B6 and free carnitine levels. Significantly decreased vitamin E, vitamin B2, vitamin B12 and folic acid and increased vitamin B1 levels were observed in the obesity and metabolic syndrome groups. CONCLUSIONS: Compared to healthy children, children with obesity and metabolic syndrome may have varying degrees of micronutrient and vitamin deficiency due to poor and unbalanced eating habits. These deficiencies should also be considered in the treatment and follow-up of obesity and metabolic syndrome.
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Resistencia a la Insulina , Síndrome Metabólico , Obesidad Infantil , Adolescente , Glucemia , Índice de Masa Corporal , Niño , Humanos , Insulina , Síndrome Metabólico/epidemiología , Obesidad Infantil/epidemiología , VitaminasRESUMEN
PURPOSE: Hyperinsulinemia is related to the development of several chronic diseases, particularly obesity. Therefore, this study aimed to examine the association between the insulinemic potential of both total diet and meals, measured by the glycemic index (GI), glycemic load (GL), insulin index (II), and insulin load (IL), and overweight risk among children and adolescents. METHODS: This cross-sectional study was conducted on 205 overweight and 146 normal-weight participants aged 6-18 years. Overweight was defined as body mass index ≥ 85th percentile of Turkish growth-reference data. Through the use of standard methodology, dietary and meal GI, GL, II, and IL were derived from dietary data collected via a 3-day dietary record. Associations were investigated using multivariable-adjusted regression analysis. RESULTS: When controlling for potential covariates, a greater dietary II (OR 2.69, 95% CI 1.28, 5.68) and IL (OR 5.22, 95% CI 2.39, 11.38), as well as GL (OR 3.89, 95% CI 1.77, 8.56), was strongly associated with higher odds of overweight (both Pfor trend < 0.001). Furthermore, breakfast GL (OR 4.87, 95% CI 2.15, 11.01), II (OR 3.88, 95% CI 1.79, 8.39), IL (OR 4.93, 95% CI 2.20, 11.05) and dinner GL (OR 2.39, 95% CI 1.10, 5.20), II (OR 3.81, 95% CI 1.73, 8.41), IL (OR 3.63, 95% CI 1.67, 7.91) were found to be a significant independent predictor of overweight (all Pfor trend < 0.001) in pediatric population. CONCLUSION: Our results suggest that dietary insulin demand, particularly for breakfast and dinner, was independently associated with overweight in children and adolescents. These findings may shed light on the relevance of considering meal insulin demand while developing dietary strategies in this population.
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Desayuno , Carga Glucémica , Adolescente , Índice de Masa Corporal , Niño , Estudios Transversales , Dieta , Índice Glucémico , Humanos , Insulina , Comidas , Sobrepeso/epidemiologíaRESUMEN
Objective: We aimed to investigate a possible role of the endocrine disruptors phthalates, di-2-ethylhexyl phthalate (DEHP) and mono (2-ethylhexyl) phthalate (MEHP), in polycystic ovary syndrome (PCOS) aetiopathogenesis. We also wished to evaluate the relationship between phthalates and metabolic disturbances in adolescents with PCOS. Methods: A total of 124 adolescents were included. Serum MEHP and DEHP levels were determined by high-performance liquid chromatography. Insulin resistance was evaluated using homeostasis model assessment-insulin resistance, quantitative Insulin Sensitivity Check Index, fasting glucose/insulin ratio, Matsuda index, and total insulin levels during oral glucose tolerance test. Participants were further subdivided into lean and obese subgroups according to body mass index (BMI). Results: Sixty-three PCOS and 61 controls, (mean age 15.2±1.5; range: 13-19 years) were enrolled. Serum DEHP and MEHP concentrations were not significantly different between PCOS and control groups. The mean (95% confidence interval) values of DEHP and MEHP were 2.62 (2.50-2.75) µg/mL vs 2.71 (2.52-2.90) µg/mL and 0.23 (0.19-0.29) µg/mL vs 0.36 (0.18-0.54) µg/mL in PCOS and the control groups respectively, p>0.05. Correlation analysis, adjusted for BMI, showed that both phthalates significantly correlated with insulin resistance indices and serum triglycerides in adolescents with PCOS. Conclusion: Serum DEHP and MEHP concentrations were not different between adolescents with or without PCOS. However, these phthalates are associated with metabolic disturbances such as dyslipidemia and insulin resistance, independently of obesity, in girls with PCOS.
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Biomarcadores/sangre , Dietilhexil Ftalato/análogos & derivados , Dietilhexil Ftalato/sangre , Dislipidemias/epidemiología , Disruptores Endocrinos/sangre , Resistencia a la Insulina , Síndrome del Ovario Poliquístico/fisiopatología , Adolescente , Adulto , Estudios de Casos y Controles , Estudios Transversales , Dietilhexil Ftalato/efectos adversos , Dislipidemias/sangre , Dislipidemias/inducido químicamente , Disruptores Endocrinos/efectos adversos , Femenino , Estudios de Seguimiento , Humanos , Plastificantes/efectos adversos , Plastificantes/metabolismo , Síndrome del Ovario Poliquístico/sangre , Pronóstico , Turquía/epidemiología , Adulto JovenRESUMEN
Patients who have secondary pseudohypoaldosteronism (PHA) in addition to hyponatraemia, hyperpotassaemia and high serum aldosterone levels for the age were included in this retrospective study.Among eight patients, seven patients were diagnosed with PHA secondary to obstructive uropathy (OUP), whereas one patient had PHA secondary to ileostomy. Six patients with OUP had simultaneous urinary tract infection (UTI) and in all except one patient, secondary PHA recovered with only UTI treatment before applying surgical correction. All the patients were younger than 3 months age. In three patients with PUV diagnosis, salt wasting recurred in an UTI episode under 3 months of age.
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Aldosterona/sangre , Hiperpotasemia , Hiponatremia , Seudohipoaldosteronismo , Infecciones Urinarias , Anomalías Urogenitales , Desequilibrio Hidroelectrolítico , Diagnóstico Diferencial , Femenino , Humanos , Hiperpotasemia/diagnóstico , Hiperpotasemia/etiología , Hiponatremia/diagnóstico , Hiponatremia/etiología , Lactante , Masculino , Natriuresis , Seudohipoaldosteronismo/diagnóstico , Seudohipoaldosteronismo/etiología , Seudohipoaldosteronismo/metabolismo , Seudohipoaldosteronismo/terapia , Estudios Retrospectivos , Turquía , Infecciones Urinarias/complicaciones , Infecciones Urinarias/tratamiento farmacológico , Infecciones Urinarias/metabolismo , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/metabolismo , Anomalías Urogenitales/cirugía , Desequilibrio Hidroelectrolítico/diagnóstico , Desequilibrio Hidroelectrolítico/etiología , Desequilibrio Hidroelectrolítico/terapiaRESUMEN
Argun M, Baykan A, Hatipoglu N, Akin L, Sahin Y, Narin N, Kurtoglu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351. Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness. Mutations in the SLC19A2 gene that codes for thiamine transporter 1 protein cause TRMAS, and more than 30 homozygous mutations have been identified to date. Congenital heart diseases and arrhythmias have been reported in few patients. We present cardiac features of five patients with TRMAS. Five patients had macrocytic anemia, diabetes mellitus, and sensorineural deafness. Two siblings had also optic atrophy. SLC19A2 gene mutation was shown in all patients. Two patients developed supraventricular tachycardia during an episode of diabetic ketoacidosis. Five patients had absent P waves on baseline electrocardiography, and one patient had additional low QRS voltage. None of the patients had structural heart disease. Discontinuation of thiamine treatment appears to trigger supraventricular tachycardia episodes at puberty.
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Anemia Megaloblástica/complicaciones , Arritmias Cardíacas/etiología , Pérdida Auditiva Sensorineural/complicaciones , Deficiencia de Tiamina/congénito , Tiamina/uso terapéutico , Anemia Megaloblástica/tratamiento farmacológico , Preescolar , Diabetes Mellitus/tratamiento farmacológico , Electrocardiografía , Femenino , Pérdida Auditiva Sensorineural/tratamiento farmacológico , Humanos , Lactante , Masculino , Proteínas de Transporte de Membrana/genética , Mutación , Deficiencia de Tiamina/complicaciones , Deficiencia de Tiamina/tratamiento farmacológicoRESUMEN
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood. Clinical and biochemical findings such as respiratory and circulatory dysfunction, hypothalamic hypernatremia, central hypothyrodism, hyperprolactinemia and central early puberty in these patients matched the criteria for ROHHAD syndrome. ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.
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Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Enfermedades Hipotalámicas/diagnóstico , Hipoventilación/diagnóstico , Obesidad/diagnóstico , Niño , Preescolar , Femenino , Humanos , Enfermedades Raras/diagnóstico , Síndrome , Aumento de PesoAsunto(s)
Proteína-5 Relacionada con Receptor de Lipoproteína de Baja Densidad/genética , Mutación , Osteogénesis Imperfecta/diagnóstico , Osteogénesis Imperfecta/genética , Adolescente , Alelos , Sustitución de Aminoácidos , Niño , Consanguinidad , Femenino , Genotipo , Humanos , Masculino , Osteogénesis Imperfecta/terapia , LinajeRESUMEN
BACKGROUND: Vitamin D (VD) deficiency (VDD) is still a population-based health problem that affects people at different ages. The aim of this study was to evaluate VD prophylaxis for the prevention of VDD in (3-36)-month-old infants and children. METHODS: Infants and children aged between 3 and 36 months, with different etiologies, admitted to outpatient and inpatient clinics from October 2010 to October 2011 at the Children's Hospital of Erciyes University, were enrolled for the study. Their VD intake (if used; time of initiation, dosage and compliance) and nutritional status (breast-fed, formula or complementary fed) were noted. In order to study seasonal VD changes, the levels of serum calcium, phosphorus and magnesium, alkaline phosphatase activity (PLA), plasma parathyroid hormone (PTH) and 25 hydroxyvitamin 25(OH)D levels were measured at the beginning of VD supplementation during the four seasons. RESULTS: A total of 316 subjects were enrolled in the study, consisting of 202 (63.9%) outpatient and 114 (26.1%) inpatient groups. From these subjects, 304 (96.2%) were supplemented with VD; whereas 12 (3.8%) were not. Out of the subjects supplemented with VD, 237 (75%) initiated VD after the second week of life, 267 (87.8%) were given three drops of VD daily and 209 (66.1%) had taken VD regularly. The plasma 25(OH)D levels were found to be lower in the inpatient group than the outpatient group (29.35 ng/mL and 34.35 ng/mL, respectively). The plasma 25(OH)D levels were lower during the spring and winter. VDD and VD insufficiency (VDI) was found in 31 (9.8%) and 30 (9.5%) subjects, respectively. CONCLUSIONS: The plasma 25(OH)D levels were lower in inpatient and breast-fed only subjects and in winter and spring. The national VD augmentation program seems to be beneficial for the prevention of VDD, but VDD/VDI seems to still be an important health problem.
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Suplementos Dietéticos , Deficiencia de Vitamina D/prevención & control , Vitamina D/administración & dosificación , Vitaminas/administración & dosificación , Preescolar , Femenino , Humanos , Lactante , Masculino , Pronóstico , Vitamina D/sangre , Deficiencia de Vitamina D/sangre , Vitaminas/sangreRESUMEN
OBJECTIVE: There is still controversy over the impact of diabetes mellitus (DM) on bone mass in children. Pyridinoline (Pyr) and deoxypyridinoline (DPyr), which stabilize the collagen chains within the extracellular matrix, are known as specific bone turnover markers. The aim of this study was to investigate the relationship between urinary Pyr and DPyr excretions and bone mineral density (BMD) in children with type 1 DM. METHODS: Serum levels of Ca, phosphorus (P), magnesium (Mg), and parathormone (PTH), alkaline phosphatase (ALP) activity, and urinary excretions of Pyr and DPyr were evaluated in 50 diabetic and 130 healthy control subjects aged between 7 and 15 years. The BMD was measured using DEXA at the lumbar vertebrae 2-4. RESULTS: Serum levels of Ca, P and PTH, and BMD were similar between the two groups (p > 0.05). The serum ALP activity was significantly higher in diabetics than in healthy subjects (257.7 ± 86.5 vs. 188.2 ± 61.8, p < 0.05, respectively). Both urinary Pyr and DPyr excretions were significantly higher in diabetic subjects compared to control subjects (127.4 ± 95.5 vs. 88.7 ± 63.7, p < 0.05, respectively, and 23.6 ± 12.7 vs. 17.2 ± 9.6, p < 0.05, respectively). The urinary excretions of Pyr and DPyr were similar in male and female subjects within both groups. CONCLUSION: The urinary excretions of Pyr and DPyr are higher in diabetic subjects than in healthy controls, suggesting the presence of increased bone turnover in diabetic patients, but we could not observe any negative effect of childhood diabetes on BMD. These results may suggest that diabetic patients are at risk for a decreased peak bone mass.
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Aminoácidos/orina , Enfermedades Óseas Metabólicas/complicaciones , Remodelación Ósea , Huesos/diagnóstico por imagen , Diabetes Mellitus Tipo 1/complicaciones , Regulación hacia Arriba , Absorciometría de Fotón , Adolescente , Desarrollo del Adolescente , Biomarcadores/orina , Densidad Ósea , Enfermedades Óseas Metabólicas/diagnóstico por imagen , Enfermedades Óseas Metabólicas/epidemiología , Niño , Desarrollo Infantil , Diabetes Mellitus Tipo 1/orina , Femenino , Humanos , Vértebras Lumbares , Masculino , Riesgo , Turquía/epidemiologíaRESUMEN
AIM: The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical and biochemical features. With the exception of congenital adrenal hyperplasia (CAH), disorders that cause gonadotropin-independent precocious puberty (GIPP) are uncommon. The literature is devoid of any large-scale studies on the etiologic distribution of GIPP. The aim of this study was to determine the frequency of each etiology in a cohort of patients with GIPP (excluding those with CAH), and to evaluate the clinical and laboratory features of these patients. MATERIALS AND METHODS: This multicenter, nationwide web-based study collected data on patients who presented with non-CAH GIPP in Turkey. RESULTS: Data were collected for 129 patients (102 girls and 27 boys) from 29 centers. Based on the data collected, the estimated prevalence of non-CAH GIPP in the studied population was 14 in 1 000 000 children. Functional ovarian cyst was the most common etiology, accounting for 37% of all cases, followed by McCune-Albright syndrome (MAS) (26%). Among the patients with MAS, 11.7% had fibrous dysplasia, 32.3% had café-au-lait spots, and 52.9% had both. Human chorionic gonadotrophin-secreting tumors included choriocarcinoma of the liver, hepatoblastoma, and germ cell tumors of the sellar-suprasellar region and mediastinum. Patients with adrenocortical tumors presented at an earlier age than those with other etiologies. Ovarian tumors included mature cystic teratoma, dysgerminoma, juvenile granulosa tumor, and steroid cell tumor. Despite overlapping features, it was possible to identify some unique clinical and laboratory features associated with each etiology. CONCLUSION: This largest cohort of patients with non-CAH GIPP to date yielded an estimation of the frequency of non-CAH GIPP in the general pediatric population and showed that girls were affected at a rate 4-fold greater than that of boys owing to functional ovarian cysts and MAS, which were the two most common etiologies. The data collected also provided some unique characteristics associated with each etiology.
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Manchas Café con Leche/complicaciones , Displasia Fibrosa Ósea/complicaciones , Displasia Fibrosa Poliostótica/complicaciones , Quistes Ováricos/complicaciones , Pubertad Precoz/etiología , Niño , Preescolar , Femenino , Humanos , Masculino , Pubertad Precoz/diagnóstico , Evaluación de Síntomas , TurquíaRESUMEN
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.
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Cariotipo Anormal , Antropometría , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Fenotipo , Adulto JovenRESUMEN
The aim of this study was to investigate the relationship between autism spectrum disorders development and exposure to mono-(2-ethylhexyl)-phthalate (MEHP), di-(2-ethylhexyl)-phthalate (DEHP), and bisphenol A (BPA), 1 of the endocrine disruptors, among phthalates. The study included 48 children with autism spectrum disorder (27 boys, 21 girls) and 41 healthy subjects (24 boys, 17 girls) as controls. Serum MEHP, DEHP, and BPA levels were measured by using high-performance liquid chromatography. Children with autism spectrum disorder had significantly increased serum MEHP, DEHP, and BPA concentrations (0.47 ± 0.14 µg/ml, 2.70 ± 0.90 µg/ml, 1.25 ± 0.30 ng/ml) compared to healthy control subjects (0.29 ± 0.05 µg/ml, 1.62 ± 0.56 µg/ml, 0.88 ± 0.18 ng/ml) respectively (P = .000). The fact that higher serum MEHP, DEHP, and BPA were found levels in the autism spectrum disorder group compared to healthy controls suggests that endocrine disruptors may have a role in the pathogenesis of autism spectrum disorders.
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Trastorno del Espectro Autista/sangre , Trastorno del Espectro Autista/complicaciones , Compuestos de Bencidrilo/sangre , Dietilhexil Ftalato/análogos & derivados , Dietilhexil Ftalato/sangre , Fenoles/sangre , Niño , Preescolar , Cromatografía Líquida de Alta Presión , Femenino , Humanos , MasculinoRESUMEN
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
Gonadotropin-releasing hormone analogues are used in the treatment of prostate cancer, breast cancer, endometriosis, and uterine leiomyomas in adults and often in the treatment of precocious puberty in children. Many adverse effects have been reported for gonadotropin-releasing hormone analogues, but anaphylaxis is rarely reported as an adverse effect. Frequent cross-reactions, particularly during childhood, and diversity of the time of onset of anaphylactic manifestations complicate the diagnosis. A patient who exhibited anaphylactic allergic reactions to two different agents used in the treatment of central precocious puberty presented here because the case has an atypical course and is the first in the literature.
Asunto(s)
Anafilaxia/inducido químicamente , Antineoplásicos Hormonales/efectos adversos , Leuprolida/efectos adversos , Pubertad Precoz/tratamiento farmacológico , Pamoato de Triptorelina/efectos adversos , Adulto , Anafilaxia/tratamiento farmacológico , Niño , Femenino , Humanos , PronósticoRESUMEN
OBJECTIVE: To assess the plasma Pentraxin 3 (PTX3) concentrations in obese children and to investigate the relationship between PTX3 levels and metabolic syndrome (MS) components. METHODS: Seventy-seven obese patients aged 10-16 y (38 girls, 39 boys) were included in the study. PTX3 levels were compared between the groups with or without MS. In addition, PTX3 was analysed separately by subgroups according to the presence of specific MS components. RESULTS: Plasma PTX3 concentrations were significantly higher in obese children and adolescents with metabolic syndrome than in those without MS (2.1 ± 1.2 ng/ml and 1.4 ± 0.9 ng/ml respectively; P = 0.02). Patients with low HDL levels (<40 mg/dl) had higher plasma PTX3 concentrations than those with normal HDL levels (P = 0.05). Similarly, those who had high triglyceride levels (≥ 150 mg/dl) had higher PTX3 levels (P = 0.01). PTX3 levels were negatively correlated with HDL cholesterol (r = -0.32, P = 0.003) among all patients. CONCLUSIONS: PTX3 levels are higher in obese children and adolescents with metabolic syndrome than in those without MS. Thus, PTX3 levels might be a useful biomarker for children and adolescents with metabolic syndrome, dyslipidemia, and cardiovascular risks.
Asunto(s)
Proteína C-Reactiva/metabolismo , Síndrome Metabólico , Obesidad Infantil , Componente Amiloide P Sérico/metabolismo , Proteínas de Fase Aguda/metabolismo , Adolescente , Biomarcadores/metabolismo , Niño , Femenino , Humanos , Masculino , Síndrome Metabólico/sangre , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/epidemiología , Obesidad Infantil/sangre , Obesidad Infantil/diagnóstico , Obesidad Infantil/epidemiología , Reproducibilidad de los Resultados , Medición de Riesgo/métodos , Estadística como Asunto , Turquía/epidemiologíaRESUMEN
AIM: Experimental in vitro studies have shown that bisphenol A affects steroidogenesis, folliculogenesis and ovarian morphology. The aim of this study was to investigate the role of the endocrine disruptor bisphenol A in the aetiopathogenesis of polycystic ovary syndrome (PCOS) in adolescents and its relationship with metabolic parameters, insulin resistance and obesity in this population. METHODS: A total of 112 girls with PCOS and 61 controls between 13 and 19 years of age were enrolled in the study. Serum bisphenol A levels were measured by high-pressure liquid chromatography. An oral glucose tolerance test was also performed. RESULTS: Adolescents with PCOS had markedly increased serum bisphenol A levels (mean: 1.1 ng/mL 95% CI: 1.0-1.2) than controls (mean: 0.8 ng/mL 95% CI: 0.6-0.9, p = 0.001). When we compared the subgroups according to obesity, the main factor determining the significant increase in bisphenol A was the presence of PCOS, but not obesity (p = 0.029). Bisphenol A was significantly correlated with total testosterone (r = 0.52), free testosterone (r = 0.44), dehydroepiandrosterone sulphate (r = 0.37) and Ferriman-Gallwey score (r = 0.43) (p < 0.05). CONCLUSION: Adolescents with PCOS had higher serum bisphenol A levels than controls, independent of obesity. Bisphenol A concentrations were significantly correlated with androgen levels, leading us to consider that bisphenol A might play a role in the aetiopathogenesis of PCOS in adolescents.