RESUMO
Acquired hypothyroidism is the most common thyroid disease in paediatric patients and in iodine-replete areas mainly due to autoimmune thyroiditis (AIT). Symptoms of hypothyroidism are unspecific and insidious for which reason thyroid function tests are often part of a general paediatric assessment. Consequently, only few patients present with pronounced symptoms which include a stunted growth pattern and multiorgan involvement when most extreme. This review provides an overview of the current knowledge on this common endocrinopathy in childhood.
Assuntos
Hipotireoidismo , Iodo , Doenças da Glândula Tireoide , Tireoidite Autoimune , Humanos , Criança , Adolescente , Hipotireoidismo/complicações , Hipotireoidismo/diagnóstico , Hipotireoidismo/tratamento farmacológico , Tireoidite Autoimune/diagnósticoRESUMO
Autoimmune thyroiditis (AIT) is the most common form of acquired hypothyroidism in paediatric patients in iodine-replete populations. AIT is characterised by a gradual autoimmune destruction of the thyroid gland. The diagnosis is verified by the presence of thyroid autoantibodies. Symptoms are rarely overt and the biochemical picture at presentation varies. This case report describes two paediatric patients that display heterogeneous clinical pictures to illustrate the variety of symptoms of AIT at presentation.
Assuntos
Hipotireoidismo , Iodo , Tireoidite Autoimune , Humanos , Criança , Hipotireoidismo/diagnóstico , Hipotireoidismo/tratamento farmacológico , Tireoidite Autoimune/diagnóstico , Tireoidite Autoimune/etiologiaRESUMO
Objective: A consensus on how to monitor girls with central precocious puberty (CPP) during gonadotropin-releasing hormone agonist (GnRHa) treatment is lacking. Increased, unstimulated basal luteinizing hormone (LH) concentrations have been suggested to indicate lack of suppression. The aim was to evaluate pre-injection basal LH concentrations during GnRHa (leuprorelin 3.75 mg) treatment every four weeks in girls with CPP. Methods: Medical records were reviewed for girls with CPP treated at a single center from 2014-2019. Clinical characteristics and laboratory findings during treatment were systematically recorded. Results: A total of 587 GnRHa pre-injection basal LH concentrations were analyzed in 74 girls. Basal LH was pubertal (≥0.3 IU/L) in 53.5% of blood samples and 87.8% of all girls had a pubertal basal LH concentration at least once. A GnRH test (n=29) was repeated in 23 girls due to suspicion of clinical progression, elevated basal LH or recordable estradiol concentrations. None had a stimulated LH >3.1 IU/L. The predictability of treatment suppression (specificity) of basal LH concentrations was 12.0% when compared to repeated GnRH stimulation tests. Despite shortening the GnRHa injection interval to three weeks, basal LH concentrations remained pubertal in 85.7% girls. A significant reduction in height standard deviation score (p<0.001) and bone age advance (p<0.001) was observed during treatment. Conclusion: Pre-injection basal LH remains at pubertal concentrations during treatment with leuprorelin 3.75 mg in girls with CPP. Clinical monitoring of pubertal progression is preferable to routine basal LH concentrations. Repeat GnRH stimulation testing should be regarded as the gold standard.
Assuntos
Fármacos para a Fertilidade Feminina/administração & dosagem , Hormônio Liberador de Gonadotropina/agonistas , Leuprolida/administração & dosagem , Hormônio Luteinizante/sangue , Puberdade Precoce/sangue , Puberdade Precoce/tratamento farmacológico , Criança , Feminino , Humanos , Estudos RetrospectivosRESUMO
Precocious puberty (PP) in girls is common and mostly idiopathic due to precocious activation of the gonadotropic axis. In this review, we find it important to distinguish the normal variant of slightly early puberty from rapidly progressive cases. Abnormal harmony of puberty more likely warrants a pathological condition. In girls aged about eight years with confirmed idiopathic PP, observation for 3-6 months is reasonable in order to identify clinically progressive cases, who will benefit from intervention with an gonadotropin-releasing hormone agonist.
Assuntos
Puberdade Precoce , Criança , Feminino , Hormônio Liberador de Gonadotropina , Humanos , Puberdade Precoce/diagnóstico , Maturidade SexualRESUMO
The prognosis of primary congenital hypothyroidism, which has potentially devastating effects on neurodevelopment, has been almost eradicated after the implementation of the neonatal screening programme. Although early facilitation with substitution of levothyroxine is preventative, caution should still be taken in severe cases, as subtle psychomotor delays may occur. Treatment dose may be indicative of the severity and pathology behind the condition and can be used as guidance when deciding which patients should have a trial of levothyroxine in cases where the thyroid gland remains in situ.
Assuntos
Hipotireoidismo Congênito/epidemiologia , Algoritmos , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/tratamento farmacológico , Hipotireoidismo Congênito/etiologia , Humanos , Incidência , Recém-Nascido , Triagem Neonatal , Tiroxina/uso terapêuticoAssuntos
Favismo/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Metemoglobinemia/etiologia , Oximetria , Transfusão de Sangue , Criança , Pré-Escolar , Cianose/etiologia , Erros de Diagnóstico , Reações Falso-Positivas , Favismo/sangue , Favismo/etiologia , Deficiência de Glucosefosfato Desidrogenase/complicações , Humanos , Hipóxia/diagnóstico , Masculino , Metemoglobinemia/sangue , Oxigênio/sangue , Pressão Parcial , Vicia fabaRESUMO
A pregnant Caucasian woman with newly diagnosed syphilis in the secondary stage was hospitalized for observation while being treated with penicillin. After one dose of penicillin the foetus was delivered by a caesarean section at gestational age 28 weeks + five days due to a reduced blood flow in arteria cerebri media. He was small for gestational age with birth weight 1,320 g. He received intensive care for eight weeks and intravenously administered benzyl penicillin 80.000 IE × 2 in 15 days. At corrected age one year he was developmentally normal. The incidence of syphilis is increasing and this case illustrates that screening and awareness of syphilis in the Western world is important.
Assuntos
Sífilis Congênita , Adulto , Antibacterianos/administração & dosagem , Antibacterianos/uso terapêutico , Feminino , Humanos , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Transmissão Vertical de Doenças Infecciosas , Masculino , Penicilina G/administração & dosagem , Penicilina G/uso terapêutico , Gravidez , Complicações Infecciosas na Gravidez/sangue , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/tratamento farmacológico , Sífilis/sangue , Sífilis/diagnóstico , Sífilis/tratamento farmacológico , Sífilis/transmissão , Sorodiagnóstico da Sífilis , Sífilis Congênita/sangue , Sífilis Congênita/diagnóstico , Sífilis Congênita/tratamento farmacológico , Sífilis Congênita/transmissãoRESUMO
A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.