Puberty in a sample of brazilian schoolboys: onset and anthropometric characteristics / Puberdade em uma amostra de meninos escolares brasileiros: início e características antropométricas

ABSTRACT Objective: To determine the age of puberty onset in boys and collect anthropometric data of participants at different puberty stages. Methods: This is a cross-sectional study that assessed 430 boys in a random sample representing 48,390 students from public and private schools from the city of Uberaba, Southeast Brazil. The inclusion criteria were males, aged between 5 and 18 years, and absence of previous diseases. Participants and their guardians filled a semistructured questionnaire with questions relevant to their and their parents' puberty. We set the significance at p<0.05 and calculated the 95% confidence intervals. Results: The mean age found in the puberty stage G2 was 11.2±1.8 (95% of participants in stage G2 were 9.2-13.4 years old). Pubarche data showed a mean of age of 11.0±1.6 years (95% of the participants experienced pubarche when they were 8.0-14.0 years old). When compared to the confidence intervals of two classical studies on the subject, our results showed a trend toward earlier pubarche. In addition, the mean age of this event in the children's parents was of 12.1±1.4 years, which was significantly higher than the age of the children's pubarche (p<0.001). Conclusions: These results indicate a secular decreasing trend in pubarche age and an earlier puberty onset. Considering these parameters, is important to design public policies aimed at preventing these early events.

RESUMO Objetivo: Determinar a idade em que a puberdade começa em meninos e coletar dados antropométricos de participantes em diferentes fases da puberdade. Métodos: Trata-se de um estudo transversal no qual foram avaliados 430 meninos, uma amostra aleatória representativa da população total de 48.390 estudantes de escolas públicas e particulares de Uberaba, Minas Gerais. Os critérios de inclusão foram: ser do sexo masculino, ter idade de 5 a 18 anos e ausência de doenças prévias. Os participantes e seus responsáveis preencheram um questionário semiestruturado com perguntas pertinentes à sua puberdade e à de seus pais. Os dados foram considerados significantes para p<0,05, e os intervalos de confiança calculados foram de 95%. Resultados: A média de idade encontrada no estágio G2 foi de 11,2±1,8 anos, sendo que 95% dos participantes em G2 tinham entre 9,2 a 13,4 anos. Quanto à pubarca, a média de idade foi de 11,0±1,6 anos, e 95% dos participantes apresentaram pubarca entre 8,0 e 14,0 anos. Quando tais resultados foram comparados aos intervalos de confiança de dois estudos clássicos sobre o tema, houve tendência à pubarca mais precoce. Além disso, a média de idade da pubarca nos pais das crianças foi de 12,1±1,4 anos, significantemente maior em relação à dos filhos (p<0,001). Conclusões: Os resultados indicam uma tendência secular em direção à diminuição da idade da pubarca e um possível início mais precoce da puberdade. É muito importante considerar esses parâmetros para estabelecer políticas públicas destinadas a prevenir esses eventos iniciais.

A recurrent mutation in tshb gene underlying central congenital hypothyroidism undetectable in neonatal screening / Uma mutação recorrente no gene tshb resultando em hipotireoidismo congênito central não detectável na triagem neonatal

ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.

RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12 anos depois e detectou uma mutação recorrente (c.373delT) no gene TSHB. Os pais e a irmã eram portadores do alelo mutante. Comentários: A mutação c.373delT já foi relatada em pacientes do Brasil, da Alemanha, da Bélgica, dos Estados Uinidos, da Suíça, da Argentina, da França, de Portugal, do Reino Unido e da Irlanda. Em resumo, nosso caso e outros relatados na literatura reforçam a teoria de que essa mutação pode ser uma causa comum de deficiência isolada de TSH. A deficiência isolada de TSH não é detectada na triagem neonatal com base na dosagem de TSH, representando um desafio clínico. Portanto, quando possível, o estudo genético molecular é indicado. A identificação dos afetados e dos portadores permite o diagnóstico, o tratamento e o aconselhamento genético adequado.

Clinical and laboratory parameters of gonadotropin-releasing hormone analog treatment effectiveness in children with precocious puberty

OBJECTIVE: There are no doubts about the clinical benefits of treatment with GnRH analogs for patients diagnosed with central precocious puberty (CPP). However, laboratory monitoring of CPP is still a matter of considerable controversy in the literature. Therefore, the main objective of this study was to evaluate the cut-off values of stimulated LH that determine gonadotrophic suppression. METHODS: Twenty-four girls, on treatment with leuprorelin acetate (LA) at 3.75 mg IM every 28 days, were studied. The clinical parameters used to indicate clinical effectiveness were regression or maintenance of sexual characteristics according to the Tanner stage, growth velocity reduction, reduction or maintenance of the difference between bone age and chronological age and maintenance or improvement of the final height prediction. For the laboratory effectiveness test, basal estradiol, LH, and FSH levels were collected before and 1 and 2 h after the administration of 3.75 mg LA. RESULTS: Eleven girls showed improvement in all clinical parameters, and their effectiveness tests were compared to those of the other patients to calculate the cut-off values, which were ≤3.64 IU/L (p=0.004*) for LH after 1 h and ≤6.10 IU/L (p<0.001*) for LH after 2 h. CONCLUSION: The LH response after the LA stimulation test, associated with clinical data and within a context of CPP, constitutes a reliable and feasible resource and can assist in monitoring the effectiveness of treatment.

Metabolic and hormonal assessment of adolescent and young adult women with prior premature adrenarche

OBJECTIVE: Follow-up studies of girls with premature adrenarche have reported the development of polycystic ovary syndrome, insulin resistance, and dyslipidemia and a propensity to cardiovascular disease. The aim of this study was to analyze the presence of these conditions in patients previously treated at the Universidade Federal do Triângulo Mineiro. METHODS: A total of 130 medical records reported premature adrenarche. One hundred and twenty-two patients were invited to participate, of whom 54 accepted; 34 patients were selected, as they had reached their final height. Anthropometric, blood glucose, insulin, and lipid and hormonal profile (LH, FSH, estradiol, 17α-OH-progesterone, androstenedione, dehydroepiandrosterone sulfate, testosterone) data were obtained, the HOMA-IR index was calculated, and pelvic ultrasonography was performed. To characterize polycystic ovary syndrome and metabolic syndrome, the Rotterdam and International Diabetes Federation criteria, respectively, were used. Data were analyzed according to measures of dispersion, frequency and correlations of interest. RESULTS: The age of the participants ranged from 15.2 to 28.2 years/months; 23.5% of the patients were overweight, 11.8% were obese, 29.4% had a large waist circumference, and 8.8% were hypertensive. None of the patients had altered glucose levels, and insulin levels and HOMA-IR were elevated in 29.4% and 38.2% of the participants, respectively; 14.7% of the patients exhibited acanthosis nigricans. The lipid profiles of the participants were variable, and one patient (2.9%) had metabolic syndrome. Polycystic ovary syndrome was found in 41.2% of patients. CONCLUSION: The percentage of patients with polycystic ovary syndrome who also had overweight, obesity and insulin resistance corroborates the literature data about the need for follow-up aiming at interventions, especially for conditions associated with cardiometabolic risk.

Associação entre acantose nigricans e outros fatores de risco cardiometabólico em crianças e adolescentes com sobrepeso e obesidade / Association between acanthosis nigricans and other cardiometabolic risk factors in children and adolescents with overweight and obesity

RESUMO Objetivo: Avaliar em um grupo de crianças e adolescentes com obesidade e sobrepeso a presença ou não de acantose nigricans e sua associação com alterações metabólicas. Métodos: Estudo transversal envolvendo 161 indivíduos com excesso de peso, que foram divididos em dois grupos, segundo a presença ou não de acantose nigricans, e nos quais foram obtidas medidas antropométricas (índice de massa corporal, pregas cutâneas, circunferência abdominal), pressão arterial, análises laboratoriais (glicemia de jejum, insulina, perfil lipídico, triglicerídeos, ácido úrico, transaminases) e o índice homeostasis model assessment. Resultados: O grupo com acantose nigricans representou 51,5% da amostra. A média de idade foi semelhante entre os grupos. O grupo com acantose nigricans apresentou maiores índice de massa corporal, escore Z do índice de massa corporal, percentual de gordura corporal, circunferência abdominal (p<0,0001) e pressão arterial sistólica (p=0,006) e diastólica (p=0,002). Não houve diferença significativa na análise do perfil lipídico, exceto o colesterol de alta densidade, que foi menor (p=0,003) no grupo com acantose. Já o ácido úrico (p<0,0001), a glicemia de jejum (p=0,006), a insulina (p<0,0001), a transaminase glutâmica oxalacética (p<0,0001) e o índice homeostasis model assessment (p<0,0001) foram significativamente maiores no grupo com acantose nigricans. Conclusões: Acantose nigricans em crianças e adolescentes com sobrepeso e obesidade esteve associada à elevação dos índices de adiposidade corporal, pressão arterial, insulina e homeostasis model assessment, indicando-a como marcador clínico associado à síndrome metabólica.

ABSTRACT Objective: To evaluate the presence or absence of acanthosis nigricans and its association with metabolic alterations in a group of obese and overweight children and adolescents. Methods: A cross sectional study of 161 overweight children and adolescents, who were divided into two groups, according to presence or absence of acanthosis nigricans. Anthropometric measurements (body mass index, skinfolds, abdominal circumference), blood pressure, laboratory tests (fasting glycemia, insulin, lipid profile, triglycerides, uric acid, transaminases) and homeostasis model assessment index. Results: The acanthosis nigricans group represented 51.5% of the sample. The mean age was similar between groups. The group with acanthosis nigricans presented higher body mass index, Z score of body mass index, body fat percentage, abdominal circumference (p<0.0001), systolic (p=0.006) and diastolic blood pressure (p=0.002). There was no significant difference in the analysis of lipid profile, except for the high-density cholesterol, which was lower (p=0.003) in the group with acanthosis. On the other hand, uric acid (p<0.0001), fasting glycemia (p=0.006), insulin (p<0.0001), glutamic oxalacetic transaminase (p<0.0001), and homeostasis model assessment index (p<0.0001) were significantly higher in the group with acanthosis nigricans. Conclusions: Acanthosis nigricans in overweight and obese children and adolescents is associated with elevation of body fat, blood pressure, insulin and homeostasis model assessment index, indicating that it is a clinical marker associated with the metabolic syndrome.

Evaluation of clinical and laboratory markers of cardiometabolic risk in overweight and obese children and adolescents

OBJECTIVE: This study analyzed the frequency of cardiometabolic risk markers and metabolic syndrome occurrence in overweight and obese children and adolescents. METHODS: The participants included 161 overweight (n=65) and obese (n=96) individuals aged between 5 and 19 years. Clinical markers were assessed (body mass index, body fat percentage, waist circumference, acanthosis, systolic and diastolic blood pressures, laboratory parameters [glucose, insulin, cholesterol (total and fractions) and triglyceride levels and homeostasis model assessment of insulin resistance (HOMA-IR) index] and leptin and adiponectin levels). The frequency of changes, odds ratios and correlations among markers were determined. Metabolic syndrome was assessed according to International Diabetes Federation criteria. RESULTS: A high frequency of acanthosis (51.6%); increased waist circumference (45.4%), systolic blood pressure / diastolic blood pressure (8.1% / 9.3%), glucose (10%), insulin (36.9%) and HOMA-IR (44.3%) values; and reduced high-density lipoprotein levels (47.2%) were observed. Leptin levels were increased in 95% of obese and in 66% of overweight subjects. Adiponectin was decreased in 29.5% of obese and in 34% of overweight subjects. An odd ratio analysis revealed a greater probability of increased waist circumference (9.0), systolic blood pressure (4.1), triglyceride (2.3) and insulin (2.9) levels and HOMA-IR (3.0) in the obese group than in the overweight group. The clinical and laboratory parameters and leptin levels exhibited significant correlations, whereas adiponectin was negatively correlated with systolic blood pressure. The occurrence rate of metabolic syndrome was 13.6%. CONCLUSIONS: The high frequency of changes in clinical, laboratory and adipokine markers indicates the need for early interventions aimed at preventing cardiometabolic complications in adulthood.

Sonographic evaluation of children with congenital hypothyroidism / Avaliação ultrassonográfica de crianças com hipotireoidismo congênito

AbstractObjective:To establish benchmarks and study some sonographic characteristics of the thyroid gland in a group of euthyroid children aged up to 5 years as compared with age-matched children with congenital hypothyroidism.Materials and Methods:Thirty-six children (17 female and 19 male) aged between 2 months and 5 years were divided into two groups – 23 euthyroid children and 13 children with congenital hypothyroidism – and were called to undergo ultrasonography.Results:In the group of euthyroid children (n = 23), mean total volume of the thyroid gland was 1.12 mL (minimum, 0.39 mL; maximum, 2.72 mL); a homogeneous gland was found in 17 children (73.91%) and 6 children (26.08%) had a heterogeneous gland. In the group of children with congenital hypothyroidism (n = 13), mean total volume of the thyroid gland was 2.73 mL (minimum, 0.20 mL; maximum, 11.00 mL). As regards thyroid location, 3 patients (23.07%) had ectopic thyroid, and 10 (69.23%) had topic thyroid, and out of the latter, 5 had a homogeneous gland (50%) and 5, a heterogeneous gland (50%). In the group with congenital hypothyroidism, 6 (46.15%) children had etiological diagnosis of dyshormoniogenesis, 3 (23.07%), of ectopic thyroid, and 4 (30.76%), of thyroid hypoplasia.Conclusion:Thyroid ultrasonography is a noninvasive imaging method, widely available, easy to perform and for these reasons could, and should, be performed at any time, including at birth, with no preparation or treatment discontinuation, to aid in the early etiological definition of congenital hypothyroidism.

ResumoObjetivo:Estabelecer padrões de referência e estudar algumas características ultrassonográficas tireoidianas em um grupo de crianças eutireoidianas até os 5 anos de idade, comparando-as a crianças portadoras de hipotireoidismo congênito de mesma faixa etária.Objetivo:Trinta e seis crianças foram divididas em dois grupos – 23 eutireoidianas e 13 portadoras de hipotireoidismo congênito – e convocadas para a realização de ultrassonografia de tireoide. Dessas crianças, 17 eram do sexo feminino e 19, do sexo masculino, com idades entre 2 meses e 5 anos.Resultados:No grupo de crianças eutireoidianas (n = 23), o volume total médio da glândula tireoide foi 1,12 mL (mínimo: 0,39 mL; máximo: 2,72 mL), sendo observadas, também, glândula homogênea em 17 crianças (73,91%) e glândula heterogênea em 6 crianças (26,08%). No grupo de crianças com hipotireoidismo congênito (n = 13), o volume total médio da glândula tireoide foi 2,73 mL (mínimo: 0,20 mL; máximo: 11,00 mL). Quanto à localização da tireoide, foram encontradas 3 crianças (23,07%) com tireoide ectópica e 10 (69,23%) com tireoide tópica, sendo que, nessas últimas, 5 tinham glândula homogênea (50%) e 5, glândula heterogênea (50%). Das crianças com hipotireoidismo congênito, 6 (46,15%) apresentavam diagnóstico etiológico de disormoniogênese, 3 (23,07%) tinham diagnóstico etiológico de ectopia e 4 (30,76%) possuíam diagnóstico etiológico de hipoplasia tireoidiana.Conclusão:A ultrassonografia de tireoide, por se tratar de um método não invasivo, bastante disponível, de fácil realização, pode e deve ser realizada a qualquer momento, inclusive ao nascimento, sem preparação ou interrupção do tratamento, para auxiliar na definição etiológica precoce do hipotireoidismo congênito.

Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects / Incidência do hipotireoidismo congênito no município de Uberaba/Minas Gerais e avaliação etiológica dos afetados

OBJECTIVE: The objective of this study was to determine the incidence and etiology of congenital hypothyroidism (CH) in Uberaba, MG. SUBJECTS AND METHODS: From 2001 to 2010, by reviewing patient files from a public reference outpatient unit. The screening program covered 88% of live-born children. RESULTS: CH was diagnosed in 16 children, representing an incidence of 1:2,017 live-born children screened. The etiological evaluation was done in 15 children and revealed seven cases of thyroid dysgenesis, seven of dyshormonogenesis, and one case of transient hypothyroidism. One child moved away from the state before etiological investigation was carried out. CONCLUSION: We concluded that both the incidence of CH and of dyshormonogenesis as the main causes of CH were increased in the investigated region, but molecular studies are necessary for a better definition of etiology.

OBJETIVO: O objetivo deste estudo foi determinar a incidência e etiologia do hipotireoidismo congênito (HC) em Uberaba, MG. PACIENTES E MÉTODOS: Mediante revisão dos prontuários de pacientes atendidos no ambulatório de referência do serviço público, no período de 2001 a 2010. RESULTADOS: A cobertura do programa foi de 88%, sendo diagnosticadas 16 crianças com HC, com incidência de 1:2.017 nascidos vivos investigados. A avaliação etiológica foi realizada em 15 crianças, sendo diagnosticados sete casos de disgenesia tireoidiana, sete casos de disormonogênese e um caso de hipotireoidismo transitório. Uma criança não foi investigada devido à mudança de residência para outro estado. CONCLUSÕES: Concluímos que a incidência do HC é maior nesta região, assim como a disormonogênese como principal causa, sendo necessários estudos moleculares para melhor definição etiológica.

História clínica de um indivíduo com cariótipo 45, X/47, XY, +21 / A clinical history of a patient with karyotype 45, X/47, XY, +21

Descreve-se a evolução clínica de um menino de 12 anos, avaliado inicialmente com 26 meses, por suspeita de síndrome de Down, apresentando sinais dismórficos, baixa estatura e leve atraso do desenvolvimento neuropsicomotor. As investigações cardíaca e renal foram normais. A análise cromossômica de linfócitos do sangue periférico e de fibroblastos de biópsia de pele mostrou mosaicismo 45,X/47,XY,+21. Trata-se da quinta descrição deste cariótipo no sexo masculino e a primeira abordando a história clínica do portador da alteração cromossômica

This paper aims to describe the clinical evolution of a 12 year-old boy with suspected Down syndrome. He was first evaluated when he was 26 months old, presenting dysmorphic features, low stature and mild neuro-psychomotor delay. Heart and renal investigations were normal. Chromosomal analysis of peripheral blood lymphocytes and fibroblasts of skin biopsy showed mosaicism 45,X/ 47,XY,+21. This is the fifth description of this karyotype in male patients and the first one focusing on the clinical history of a patient with such chromosome aberration