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1.
Front Endocrinol (Lausanne) ; 15: 1403470, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38966214

RESUMO

Introduction: Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypothalamic-pituitary deficiencies including hypogonadism. In girls with PWS, hypogonadism can present early in childhood, leading to genital hypoplasia, delayed puberty, incomplete pubertal development, and infertility. In contrast, girls can present with premature activation of the adrenal axis leading to early pubarche and advanced bone age. We aim to evaluate the progression of puberty and adrenarche signals in girls with PWS. Methodology: A longitudinal retrospective cohort study included girls with PWS followed at a Pediatric Endocrinology Outpatient Clinic in a Tertiary University Hospital in Sao Paulo, Brazil from 2002 to 2022. Data collected via chart review included clinical information on birth history, breast and pubic hair Tanner stages, presence of genital hypoplasia, age at menarche, regularity of menstrual cycles, body mass index (BMI) z-score, final height, age of initiation of estrogen replacement and growth hormone replacement, as well as results for PWS genetic subtype; biochemical investigation (LH, FSH, estradiol, DHEA-S); radiographic bone age and pelvic ultrasound. Results: A total of 69 girls were included in the study and the mean age of puberty onset was 10.2 years in those who started puberty after the age of 8 years. Breast Tanner stage IV was reached by 29.1% girls at a mean age of 14.9 years. Spontaneous menarche was present in 13.8% and only one patient had regular menstrual cycles. Early adrenarche was seen in 40.4% of cases. Conclusion: Our study demonstrated in a large sample that girls with PWS often present with delayed onset of puberty despite frequent premature adrenarche. Based on our results, we suggest an estrogen replacement protocol for girls with PWS to be started at the chronological age or bone age of 12-13 years, taking into consideration the uterus size. Further prospective studies are needed.


Assuntos
Síndrome de Prader-Willi , Puberdade , Humanos , Feminino , Síndrome de Prader-Willi/fisiopatologia , Criança , Estudos Retrospectivos , Adolescente , Puberdade/fisiologia , Estudos Longitudinais , Centros de Atenção Terciária , Menarca/fisiologia , Brasil/epidemiologia , Estudos de Coortes , Adrenarca , Puberdade Precoce/epidemiologia
2.
Front Endocrinol (Lausanne) ; 13: 802351, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35813646

RESUMO

Aims/Hypothesis: Caused by biallelic mutations of the gene encoding the transcription factor RFX6, the rare Mitchell-Riley syndrome (MRS) comprises neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis or hypoplasia, duodenal atresia, and severe chronic diarrhea. So far, sixteen cases have been reported, all with a poor prognosis. This study discusses the multidisciplinary intensive clinical management of 4 new cases of MRS that survived over the first 2 years of life. Moreover, it demonstrates how the mutations impair the RFX6 function. Methods: Clinical records were analyzed and described in detail. The functional impact of two RFX6R181W and RFX6V506G variants was assessed by measuring their ability to transactivate insulin transcription and genes that encode the L-type calcium channels required for normal pancreatic beta-cell function. Results: All four patients were small for gestational age (SGA) and prenatally diagnosed with duodenal atresia. They presented with neonatal diabetes early in life and were treated with intravenous insulin therapy before switching to subcutaneous insulin pump therapy. All patients faced recurrent hypoglycemic episodes, exacerbated when parenteral nutrition (PN) was disconnected. A sensor-augmented insulin pump therapy with a predictive low-glucose suspension system was installed with good results. One patient had a homozygous c.1517T>G (p.Val506Gly) mutation, two patients had a homozygous p.Arg181Trp mutation, and one patient presented with new compound heterozygosity. The RFX6V506G and RFX6R181W mutations failed to transactivate the expression of insulin and genes that encode L-type calcium channel subunits required for normal pancreatic beta-cell function. Conclusions/Interpretation: Multidisciplinary and intensive disease management improved the clinical outcomes in four patients with MRS, including adjustment of parenteral/oral nutrition progression and advanced diabetes technologies. A better understanding of RFX6 function, in both intestine and pancreas cells, may break ground in new therapies, particularly regarding the use of drugs that modulate the enteroendocrine system.


Assuntos
Diabetes Mellitus , Doenças do Recém-Nascido , Diabetes Mellitus/diagnóstico , Obstrução Duodenal , Doenças da Vesícula Biliar , Humanos , Recém-Nascido , Insulina/genética , Atresia Intestinal , Mutação , Fatores de Transcrição de Fator Regulador X/genética , Fatores de Transcrição de Fator Regulador X/metabolismo
3.
Pediatr Diabetes ; 23(3): 274-285, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35023257

RESUMO

In children, the mechanisms implicated in deterioration of glucose homeostasis versus reversion to normal glucose tolerance (NGT) remain uncertain. We aimed to describe the natural history of dysglycemia from childhood to late adolescence and to identify its early determinants. We used baseline (8-10 years, n = 630), 1st follow-up (10-12 years, n = 564) and 2nd follow-up (15-17 years, n = 377) data from the QUALITY cohort of White Canadian children with parental obesity. Children underwent a 2-h oral glucose tolerance test at each cycle with plasma glucose and insulin measured at 0/30/60/90/120 min. American Diabetes Association criteria defined dysglycemia (impaired fasting glucose, impaired glucose tolerance or type 2 diabetes). Longitudinal patterns of insulin sensitivity and beta-cell function were estimated using generalized additive mixed models. Model averaging identified biological, sociodemographic and lifestyle-related determinants of dysglycemia. Of the children NGT at baseline, 66 (21%) developed dysglycemia without reverting to NGT. Among children with dysglycemia at baseline, 24 (73%) reverted to NGT. In children with dysglycemia at 1st follow-up, 18 (53%) later reverted to NGT. Among biological, sociodemographic and lifestyle determinants at 8-10 years, only fasting and 2-h glucose were associated with developing dysglycemia (odds ratio [95% CI] per 1 mmol/L increase: 4.50 [1.06; 19.02] and 1.74 [1.11; 2.73], respectively). Beta-cell function decreased by 40% in children with overweight or obesity. In conclusion, up to 75% of children with dysglycemia reverted to NGT during puberty. Children with higher fasting and 2-h glucose were at higher risk for progression to dysglycemia, while no demographic/lifestyle determinants were identified.


Assuntos
Diabetes Mellitus Tipo 2 , Intolerância à Glucose , Resistência à Insulina , Adolescente , Glicemia , Canadá/epidemiologia , Criança , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/etiologia , Intolerância à Glucose/epidemiologia , Intolerância à Glucose/etiologia , Humanos , Obesidade/complicações , Obesidade/epidemiologia , Pais
4.
Horm Res Paediatr ; 94(11-12): 410-415, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34610594

RESUMO

BACKGROUND/AIMS: Obesity leads to increased risk of thromboembolic events in adults, but few studies have addressed the relationship between obesity and thrombogenic risk during childhood. The aim of this study was to evaluate the prothrombotic state of obese children in comparison with healthy children. METHODS: Thrombin generation, fibrinogen, and D-dimer levels, along with metabolic parameters, were measured in 72 prepubertal children, of which 47 were obese and 25 eutrophic. RESULTS: A significant increase in thrombin generation, fibrinogen, and dyslipidemia was found among obese patients. CONCLUSION: A prothrombotic state develops in childhood obesity during the prepubertal phase.


Assuntos
Doenças Cardiovasculares , Obesidade Infantil , Adulto , Índice de Massa Corporal , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Criança , Fibrinogênio/análise , Fibrinogênio/metabolismo , Fatores de Risco de Doenças Cardíacas , Humanos , Obesidade Infantil/complicações , Fatores de Risco
5.
Child Obes ; 17(8): 542-550, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34264758

RESUMO

Background and Objective: Weight-related behaviors are determined by multiple individual and contextual factors, with recent evidence implicating personal social networks (PSNs). Greater understanding of these relationships could help inform healthy weight promoting interventions. We conducted a feasibility study among youth at risk of obesity to document process outcomes, to discern relationships between PSN features and weight-related behaviors, and to generate hypotheses with respect to perceived social support (SS) and sex. Methods: Participants (egos) nominated up to 10 people (alters) with whom they discussed important matters. Egos reported their own and each alter's age, sex, body shape, lifestyle behaviors, relation, frequency of exercising with each alter, and of being encouraged by each alter to exercise. We examined relationships between PSN features and weight-related outcomes and explored the role of SS, using both correlational and linear regression analyses. Results: There were 45 participants (mean age 16.4 years) and body mass index z-score (zBMI) ranged from -1.2 to 3.9. There were few missing responses to PSN items; broad variation across most items, including SS scores, was reported. Correlations pointed to plausible relationships implicating PSN features and lifestyle behaviors. In exploratory analyses, network-based SS was positively associated with adiposity in girls and negatively associated in boys, while lifestyle role modelling was not associated with adiposity. Conclusions: Our findings support the feasibility of measuring the PSN in youth and the potential for using social network analysis to investigate social and behavioral mechanisms associated with obesity.


Assuntos
Adiposidade , Obesidade Infantil , Adolescente , Índice de Massa Corporal , Estudos de Viabilidade , Feminino , Humanos , Masculino , Obesidade Infantil/epidemiologia , Obesidade Infantil/prevenção & controle , Rede Social
6.
Obes Res Clin Pract ; 15(2): 157-162, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33608233

RESUMO

INTRODUCTION: Attrition in pediatric weight management programs is notoriously high. Greater understanding of its determinants is needed to inform retention strategies. We identified determinants of attrition in CIRCUIT, a healthy lifestyle intervention program for youth at risk of cardiovascular disease. METHODS: A one-arm intervention study of children aged 4-18 years who initiated the CIRCUIT program in the first five years of its existence (N = 403). We defined attrition as attending the baseline visit but ceasing attendance prior to the 1-year follow-up. Potential determinants of dropout included the child's age, sex, ethnicity, body mass index (BMI) z-score, family socio-demographic characteristics, and estimated driving time to the program, all measured at baseline. Associations were estimated bivariately, using chi-squared- and t-tests, and simultaneously in a multivariable logistic regression model. RESULTS: Of the 403 participants who started the program, 198 (49%) dropped out within 12 months of enrollment. Youth who dropped out were older (mean age 12.8y vs. 11.3y; p < 0.01), were less likely to live with both parents (62% vs. 71%; p = 0.05), and to have mothers who had completed high school (79% vs. 88%; p = 0.01). No group differences were observed for sex, ethnicity, baseline BMI z-score, fathers' education, or driving time to the program. In multivariate models, only older age at initiation of the intervention (OR: 1.2; CI: 1.1,1.3) and lower maternal education (OR: 2.0; CI: 1.0,3.8) were associated with dropout. CONCLUSION: Improved tailoring of interventions to older pediatric participants and to families of lower maternal education may help reduce attrition in CIRCUIT and similar lifestyle intervention programs.


Assuntos
Estilo de Vida Saudável , Pacientes Desistentes do Tratamento , Obesidade Infantil , Adolescente , Índice de Massa Corporal , Criança , Humanos , Pais , Obesidade Infantil/terapia
7.
Paediatr Child Health ; 26(8): 478-485, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34992701

RESUMO

OBJECTIVES: Obesity is the most prevalent risk factor for cardiovascular disease (CVD) in children. We developed a 2-year lifestyle intervention for youth at risk of CVD. We assessed changes in body mass index z-scores (zBMI) and key cardiometabolic risk factors, physical fitness, and capacity among those who completed the program. METHODS: The CIRCUIT program is a multidisciplinary lifestyle intervention for children aged 4 to 18 years at risk of CVD, based on a personalized plan to improve cardiometabolic outcomes by increasing physical activity and reducing sedentary behaviours. Both at baseline and 2-year follow-up, we measured zBMI, blood pressure z-scores (zBP), adiposity (%body and %trunk fat), fasting blood glucose and lipid profile, aerobic (VO2max) and anaerobic (5×5 m shuttle run test) fitness, and physical capacity indicators. Differences between baseline and follow-up were examined using paired t-tests (for age-sex standardized outcomes) and multivariable mixed effect models, adjusted for age and sex (for other outcomes). RESULTS: Among the 106 participants (53 males) who completed the 2-year program, mean age at baseline was 10.9 years (SD=3.2). After 2 years, zBMI and diastolic zBP decreased by 0.30SD (95% CI: -0.44; -0.16) and 0.43SD (95% CI: -0.65; -0.23), respectively. Participants improved %body and %trunk fat, lipid profile, aerobic and anaerobic fitness levels, and physical capacity (p<0.02). No changes in systolic zBP nor in fasting plasma glucose were observed. CONCLUSION: Our findings showed improved zBMI, cardiometabolic outcomes, physical fitness, and capacity among children at risk of CVD, suggesting that CIRCUIT is a promising intervention.

8.
Rev Paul Pediatr ; 38: e2018239, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31939513

RESUMO

OBJECTIVE: To describe a case of a male adolescent with symptomatic idiopathic intracranial hypertension (IIH) associated with obesity treated with bariatric surgery. CASE DESCRIPTION: A 16-year-and-6-month-old severely obese boy [weight: 133.6 kg; height: 1.74 m (Z score: +0.14); BMI: 44.1 kg/m2 (Z score: +4.4)], Tanner pubertal stage 5, presented biparietal, high-intensity, and pulsatile headaches, about five times per week, associated with nocturnal awakenings, and partial improvement with common analgesics, for three months. Ophthalmologic evaluation evidenced bilateral papilledema. Cranial computed tomography revealed no mass or anatomic abnormalities. Lumbar puncture showed increased intracranial pressure of 40 cmH2O (reference value: <28 cmH2O) with a normal content. After being diagnosed with IIH, the patient was started on acetazolamide. However, after three months, he was still symptomatic. He was diagnosed with obesity due to excess energy intake and, as he had failed to lose weight after a conventional clinical treatment, bariatric surgery was indicated. The patient (at 16 years and nine months) underwent an uncomplicated laparoscopic sleeve gastrectomy. Ophthalmologic evaluation, performed five months after surgery, revealed normal visual acuity in both eyes and improvement of bilateral papilledema. Follow-up at 18 months showed a 67.5% loss of excess weight (weight: 94.5 kg and BMI: 31.2 kg/m2) and complete resolution of IIH symptoms. COMMENTS: IIH is characterized by increased intracranial pressure with no evidence of deformity or obstruction of the ventricular system on neuroimaging. It has been associated with obesity. Bariatric surgery may be a valid alternative approach for morbidly obese adolescent patients with refractory symptoms.


Assuntos
Cirurgia Bariátrica/métodos , Obesidade Mórbida/cirurgia , Pseudotumor Cerebral/fisiopatologia , Acetazolamida/uso terapêutico , Adolescente , Assistência ao Convalescente , Diuréticos/uso terapêutico , Fundo de Olho , Cefaleia/diagnóstico , Cefaleia/etiologia , Humanos , Masculino , Papiledema/diagnóstico por imagem , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/tratamento farmacológico , Punção Espinal/métodos , Resultado do Tratamento , Redução de Peso/fisiologia
9.
Pediatr Radiol ; 50(1): 107-115, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31468085

RESUMO

BACKGROUND: Abnormal posterior pituitary development including ectopic location has been associated with endocrine manifestations of anterior pituitary dysfunction. OBJECTIVE: We describe an unreported clinical and radiologic entity we call partial ectopic posterior pituitary for which associated endocrine consequences are not known. MATERIALS AND METHODS: We selected pediatric head MRI examinations from 2005 to 2017 based on the finding of a double midline sellar and suprasellar bright spot on T1-weighted sequence. Medical history, physical examination, pituitary hormonal profile and bone age evaluation were extracted from the medical record of the selected patients. An experienced pediatric neuroradiologist reviewed head MRIs, which were performed on 3-tesla (T) magnet and included at least sagittal T1-weighted imaging centered on the sella turcica obtained with and without fat suppression. RESULTS: In six cases, two midline bright spots were identified on T1-weighted sequences obtained both with and without fat suppression. While one spot was located at the expected site of the neurohypophysis in the posterior sella, the second one was in the region of the median eminence, suggesting partial ectopic posterior pituitary gland. Growth hormone deficiency, either isolated (n=1) or combined with thyroid stimulating hormone deficiency (n=1) was found. None of the children had clinical signs of posterior pituitary dysfunction. CONCLUSION: We describe an unreported imaging entity suggesting partial ectopic posterior pituitary gland in six children. Anterior pituitary hormone deficiencies might be detected in those children and long-term follow-up could provide additional information on the development of other pituitary hormone deficiencies.


Assuntos
Imageamento por Ressonância Magnética/métodos , Neuro-Hipófise/anormalidades , Neuro-Hipófise/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Recém-Nascido , Masculino , Estudos Prospectivos
10.
Int J Obes (Lond) ; 44(4): 781-789, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31767973

RESUMO

OBJECTIVE: To identify determinants for the development of "normal weight metabolically unhealthy" (NWMU) profiles among previously metabolically healthy normal weight children. METHODS: The QUALITY cohort comprises youth 8-10 years of age with a parental history of obesity (n = 630). Of these, normal weight children with no metabolic risk factors were identified and followed up 2 years later (n = 193). Children were classified as NWMU if they remained normal weight but developed at least one cardiometabolic risk factor. They were classified as normal weight metabolically healthy otherwise. Multivariable logistic regression models were used to identify whether adiposity (anthropometrics and DXA), lifestyle habits (physical activity, screen time, vegetables, and fruit- and sugar-sweetened beverages intake), fitness, and family history of cardiometabolic disease were associated with new onset NWMU. RESULTS: Of the 193 normal weight and metabolically healthy children at baseline, 45 (23%) became NWMU 2 years later (i.e., 48% had elevated HDL cholesterol, 13% had elevated triglycerides, and 4% had impaired fasting glucose). Changes in adiposity between baseline and follow-up were associated with an increased risk of NWMU for all adiposity measures examined (e.g., for ∆zBMI OR = 3.95; 95% CI: 1.76, 8.83). Similarly, a 2-year change in screen time was associated with incident NWMU status (OR = 1.24; 95% CI 1.04, 1.49). CONCLUSIONS: Children who increase their adiposity levels as they enter puberty, despite remaining normal weight, are at risk of developing cardiometabolic risk factors. Studies examining long-term consequences of NWMU profiles in pediatrics are needed to determine whether changes in screening practice are warranted.


Assuntos
Peso Corporal/fisiologia , Síndrome Metabólica/epidemiologia , Glicemia/análise , Glicemia/metabolismo , Fatores de Risco Cardiometabólico , Criança , HDL-Colesterol/sangue , Feminino , Seguimentos , Humanos , Masculino , Síndrome Metabólica/fisiopatologia
11.
Artigo em Inglês, Português | LILACS | ID: biblio-1057214

RESUMO

ABSTRACT Objective: To describe a case of a male adolescent with symptomatic idiopathic intracranial hypertension (IIH) associated with obesity treated with bariatric surgery. Case description: A 16-year-and-6-month-old severely obese boy [weight: 133.6 kg; height: 1.74 m (Z score: +0.14); BMI: 44.1 kg/m2 (Z score: +4.4)], Tanner pubertal stage 5, presented biparietal, high-intensity, and pulsatile headaches, about five times per week, associated with nocturnal awakenings, and partial improvement with common analgesics, for three months. Ophthalmologic evaluation evidenced bilateral papilledema. Cranial computed tomography revealed no mass or anatomic abnormalities. Lumbar puncture showed increased intracranial pressure of 40 cmH2O (reference value: <28 cmH2O) with a normal content. After being diagnosed with IIH, the patient was started on acetazolamide. However, after three months, he was still symptomatic. He was diagnosed with obesity due to excess energy intake and, as he had failed to lose weight after a conventional clinical treatment, bariatric surgery was indicated. The patient (at 16 years and nine months) underwent an uncomplicated laparoscopic sleeve gastrectomy. Ophthalmologic evaluation, performed five months after surgery, revealed normal visual acuity in both eyes and improvement of bilateral papilledema. Follow-up at 18 months showed a 67.5% loss of excess weight (weight: 94.5 kg and BMI: 31.2 kg/m2) and complete resolution of IIH symptoms. Comments: IIH is characterized by increased intracranial pressure with no evidence of deformity or obstruction of the ventricular system on neuroimaging. It has been associated with obesity. Bariatric surgery may be a valid alternative approach for morbidly obese adolescent patients with refractory symptoms.


RESUMO Objetivo: Descrever um caso de cirurgia bariátrica como tratamento de pseudotumor cerebral primário (PTCP) em adolescente do sexo masculino com obesidade. Descrição do caso: Adolescente, sexo masculino, 16 anos e 6 meses, com obesidade exógena [peso:133,6 kg; estatura:1,74 m (escore z: +0,14); IMC: 44,1 kg/m2 (escore z: +4,4)], estadiamento puberal de Tanner 5, apresentando cefaleia bi-parietal, pulsátil e de alta-intensidade, cerca de cinco vezes por semana, associada a despertares noturnos, e com melhora parcial com analgésicos comuns, há três meses. A avaliação oftalmológica evidenciou papiledema bilateral e a tomografia computadorizada de crânio não revelou massas ou alterações anatômicas. A punção lombar mostrou pressão intracraniana elevada de 40 cmH2O (Referência: <28 cmH2O) com conteúdo normal. Feito o diagnóstico, o paciente foi iniciou uso de acetazolamida. No entanto, após 3 meses, o paciente mantinha-se sintomático. Ele foi diagnosticado com obesidade devido ao consumo calórico excessivo e, como não havia obtido sucesso na perda de peso com tratamento clínico convencional, a cirurgia bariátrica foi indicada. Aos 16 anos e 9 meses, o paciente foi submetido a gastrectomia vertical laparoscópica sem complicações. A avaliação oftalmológica, cinco meses após a cirurgia, revelou melhora do papiledema bilateral com acuidade visual normal em ambos os olhos. Apresentou perda de excesso de peso de 67,5% (peso: 94,5 kg e IMC:31,2 kg/m2) e resolução completa dos sintomas de PPTC 18 meses após a cirurgia. Comentários: O PTCP é caracterizado pelo aumento da pressão intracraniana, sem evidência de deformidade ou obstrução do sistema ventricular na neuroimagem. Está associado à obesidade. A cirurgia bariátrica pode ser uma alternativa terapêutica válida para pacientes adolescentes obesos graves com sintomas refratários.


Assuntos
Humanos , Masculino , Adolescente , Cirurgia Bariátrica/métodos , Acetazolamida/uso terapêutico , Punção Espinal/métodos , Obesidade Mórbida/cirurgia , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/fisiopatologia , Pseudotumor Cerebral/tratamento farmacológico , Redução de Peso/fisiologia , Papiledema/diagnóstico por imagem , Resultado do Tratamento , Assistência ao Convalescente , Diuréticos/uso terapêutico , Fundo de Olho , Cefaleia/diagnóstico , Cefaleia/etiologia
12.
J Pediatr Endocrinol Metab ; 32(4): 421-428, 2019 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-30862762

RESUMO

Background Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycemia (HH) not addressed as a potential differential diagnosis in current pediatric guidelines. We present a case of IAS in a child with no previous history of autoimmune disease, no previous intake of triggering medications and absence of genetic predisposition. Case presentation A 6-year-old boy presented with recurrent HH (blood glucose of 26 mg/dL [1.4 mmol/L] and insulin of 686 µU/mL). Abdominal imaging was normal. After multiple therapeutic failures, we hypothesized misuse of exogenous insulin and factitious hypoglycemia. Council of Guardianship had the child separated from his mother, but insulin levels remained high. A chromatography test was then performed which showed high titers of endogenous insulin autoantibody (IAA) with early dissociation from the insulin molecule. The human leukocyte antigen (HLA) test showed a DRB1 *13:01/*08:02 genotype. The patient was advised to control food intake and physical activity routines. During a 5-year follow-up, hypoglycemic episodes were sparse, despite high insulin levels. Conclusions Misdiagnosis of IAS with factitious hypoglycemia may happen if IAS is not considered as a differential diagnosis, leading to potential traumatic consequences. Further efforts should be made to increase awareness of IAS as a differential diagnosis of hypoglycemia and to include it in pediatric guidelines.


Assuntos
Doenças Autoimunes/diagnóstico , Erros de Diagnóstico , Hipoglicemia/complicações , Anticorpos Anti-Insulina/sangue , Insulina/sangue , Doenças Autoimunes/sangue , Doenças Autoimunes/etiologia , Criança , Humanos , Insulina/administração & dosagem , Anticorpos Anti-Insulina/imunologia , Masculino , Prognóstico
13.
Artigo em Inglês | MEDLINE | ID: mdl-31920976

RESUMO

Children with "metabolically healthy obesity" (MHO) are a distinct subgroup of youth with obesity, who are less prone to the clustering of cardiometabolic risk factors. Although this phenotype, frequently defined by the absence of metabolic syndrome components or insulin resistance, was first described during the early 1980s, a consensus-based definition of pediatric MHO was introduced only recently, in 2018. The purpose of this review was to concisely summarize current knowledge regarding the MHO phenomenon in youth. The prevalence of MHO in children varies from 3 to 87%, depending on the definition used and the parameters evaluated, as well as the ethnicity and the pubertal status of the sample. The most consistent predictors of MHO in youth include younger age, lower body mass index, lower waist circumference, and lower body fat measurements. Various hypotheses have been proposed to elucidate the underlying factors maintaining the favorable MHO phenotype. While preserved insulin sensitivity and lack of inflammation were previously considered to be the main etiological factors, the most recent findings have implicated adipokine levels, the number of inflammatory immune cells in the adipose tissue, and the reduction of visceral adiposity due to adipose tissue expandability. Physical activity and genetic factors also contribute to the MHO phenotype. Obesity constitutes a continuum-increased risk for cardiometabolic complications, which is less evident in children with MHO. However, some findings have highlighted the emergence of hepatic steatosis, increased carotid intima-media thickness and inflammatory biomarkers in the MHO group compared to peers without obesity. Screening should be directed at those more likely to develop clustering of cardiometabolic risk factors. Lifestyle modifications should include behavioral changes focusing on sleep duration, screen time, diet, physical activity, and tobacco smoke exposure. Weight loss has also been associated with the improvement of insulin sensitivity and inflammation. Further investigative efforts are needed in order to elucidate the mechanisms which protect against the clustering of cardiometabolic risk factors in pediatric obesity, to provide more efficient, targeted treatment approaches for children with obesity, and to identify the protective factors preserving the MHO profile, avoiding the crossover of MHO to the phenotype with metabolically unhealthy obesity.

14.
Pediatrics ; 142(2)2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-30002138

RESUMO

Transient hypothyroidism can present itself as clinically asymptomatic or with few symptoms. Early treatment with levothyroxine (L-T4) prevents complications related to this disorder. We report a case of a male infant with concomitant short bowel syndrome and transient hypothyroidism treated with rectal L-T4. A 4-month-and-10-day-old boy with previous gastroschisis underwent multiple surgical approaches for small bowel resection and developed short bowel syndrome. We suspected hypothyroidism because of jaundice (direct bilirubin up to 59 mg/dL), the absence of evacuation, oral diet intolerance, and intestinal dysmotility. Because of a thyrotropin level of 34.45 µIU/mL and a free thyroxine level of 0.64 ng/dL, the diagnosis was confirmed. Because fasting was demanding, we started the patient on rectal diluted L-T4. After 4 weeks, the patient had spontaneous peristalsis, improvement of jaundice (direct bilirubin: 4.6 mg/dL), and normalized free thyroxine and thyrotropin values. In the present case, the patient was diagnosed with hypothyroidism and was on absolute fasting. An alternative route of drug administration was warranted. We empirically prescribed rectal diluted L-T4 when intravenous and suppository L-T4 were not available. This method was proven to be safe and effective in improving the patient's clinical and biochemical status. Rectal L-T4 is a possible alternative route of administration to treat hypothyroidism in patients who are unable to take the medication orally.


Assuntos
Hipotireoidismo/diagnóstico por imagem , Hipotireoidismo/tratamento farmacológico , Tiroxina/administração & dosagem , Administração Retal , Pré-Escolar , Humanos , Hipotireoidismo/sangue , Lactente , Masculino , Supositórios , Tiroxina/sangue , Resultado do Tratamento
15.
Gynecol Endocrinol ; 34(1): 45-48, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28758509

RESUMO

BACKGROUND AND AIMS: In adolescence and obesity, the pathophysiology of polycystic ovary syndrome (PCOS) is very difficult to distinguish. We aimed to assess the diagnosis of PCOS in the population of obese adolescent. METHODS: Cross-sectional study. SETTING: Pediatric Endocrinology Weight and Management Clinic from Children's Institute, São Paulo, Brazil. PARTICIPANTS: Forty-nine post-menarcheal obese adolescents with mean age of 14.7 years. INTERVENTIONS: Anthropometric assessment and review of medical records were done. Clinical and laboratory hyperandrogenism were quantified using Ferriman-Gallwey index and androgenic dosages, respectively. Ovarian morphology was evaluated through suprapubic ultrasonography. RESULTS: By the 2015 Witchel et al. guideline for PCOS in adolescence, 18.4% were diagnosed as having PCOS. When assessed by Rotterdam, Androgen Excess and PCOS Society, and American National Institute of Health criteria's, 26.4%, 22.4%, and 20.4% had PCOS, respectively. Irregular menstrual cycles were found in 65.3% of patients. Clinical hyperandrogenism was observed in 16.3% of girls and 18.4% had elevated serum androgen values. Suprapubic ultrasonography revealed enlarged ovaries in 18.4% of the adolescents. CONCLUSIONS: PCOS in all-comers obese adolescents from a Weight and Management Clinic in a quaternary hospital is more frequent when compared to adult women showed in the literature.


Assuntos
Obesidade/complicações , Obesidade/epidemiologia , Ovário/diagnóstico por imagem , Síndrome do Ovário Policístico/diagnóstico , Síndrome do Ovário Policístico/epidemiologia , Adolescente , Androgênios/sangue , Índice de Massa Corporal , Brasil/epidemiologia , Estudos Transversais , Feminino , Humanos , Hiperandrogenismo/diagnóstico , Distúrbios Menstruais/complicações , Distúrbios Menstruais/epidemiologia , National Institutes of Health (U.S.) , Síndrome do Ovário Policístico/complicações , Ultrassonografia , Estados Unidos
16.
Arch. endocrinol. metab. (Online) ; 61(6): 608-613, Dec. 2017. tab, graf
Artigo em Inglês | LILACS | ID: biblio-887613

RESUMO

ABSTRACT Objective: The objective was to conduct clinical and metabolic evaluations of obese adolescents before and after laparoscopic sleeve gastrectomy (LSG) (up to 24 months). Subjects and methods: This was designed as a retrospective, descriptive series of cases study, conducted in Instituto da Criança, São Paulo, Brazil. Analysis of clinical and laboratory data from 22 obese adolescents between 14 and 19 years old submitted to LSG between 2007 and 2014. Patients had BMI > 40 kg/m2 or BMI > 35 kg/m2 with comorbidities. Anthropometric, clinical and laboratory assessments were performed: before surgery, 6, 12, 18, and 24 months after surgery. We assessed weight loss and metabolic changes up to 24 months after LSG. Results: The mean preoperative weight and BMI were 128.5 kg (SD = 23.1) and 46.5 kg/m2 (SD = 74), respectively. There was an average weight loss of 34.5 kg in the first 12 months' post LSG, corresponding to a 60% excess weight loss (EWL), as well as an average reduction in BMI of 12.3 kg/m2. However, after 24 months, the average EWL was 45%, corresponding to an average weight regain (WR) of 13.3 kg (15%) within two years. LSG improved dyslipidemia in 67.8% of patients, a significant remission of hepatic steatosis 47% and 37.7% systemic arterial hypertension; type 2 diabetes remission was complete. Conclusions: LSG proved to be a safe and effective procedure and seems to be the new hope for the obesity epidemic.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Obesidade Mórbida/cirurgia , Laparoscopia/métodos , Obesidade Infantil/cirurgia , Gastrectomia/métodos , Obesidade Mórbida/sangue , Estudos Retrospectivos , Resultado do Tratamento
17.
Arch Endocrinol Metab ; 61(6): 608-613, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29412386

RESUMO

OBJECTIVE: The objective was to conduct clinical and metabolic evaluations of obese adolescents before and after laparoscopic sleeve gastrectomy (LSG) (up to 24 months). SUBJECTS AND METHODS: This was designed as a retrospective, descriptive series of cases study, conducted in Instituto da Criança, São Paulo, Brazil. Analysis of clinical and laboratory data from 22 obese adolescents between 14 and 19 years old submitted to LSG between 2007 and 2014. Patients had BMI > 40 kg/m2 or BMI > 35 kg/m2 with comorbidities. Anthropometric, clinical and laboratory assessments were performed: before surgery, 6, 12, 18, and 24 months after surgery. We assessed weight loss and metabolic changes up to 24 months after LSG. RESULTS: The mean preoperative weight and BMI were 128.5 kg (SD = 23.1) and 46.5 kg/m2 (SD = 74), respectively. There was an average weight loss of 34.5 kg in the first 12 months' post LSG, corresponding to a 60% excess weight loss (EWL), as well as an average reduction in BMI of 12.3 kg/m2. However, after 24 months, the average EWL was 45%, corresponding to an average weight regain (WR) of 13.3 kg (15%) within two years. LSG improved dyslipidemia in 67.8% of patients, a significant remission of hepatic steatosis 47% and 37.7% systemic arterial hypertension; type 2 diabetes remission was complete. CONCLUSIONS: LSG proved to be a safe and effective procedure and seems to be the new hope for the obesity epidemic.


Assuntos
Gastrectomia/métodos , Laparoscopia/métodos , Obesidade Mórbida/cirurgia , Obesidade Infantil/cirurgia , Adolescente , Feminino , Humanos , Masculino , Obesidade Mórbida/sangue , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
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