Assuntos
Nanismo/genética , Íntrons , Mutação , Receptores da Somatotropina/genética , Alanina , Feminino , Glicina , Homozigoto , Humanos , Lactente , Peru , Polimorfismo Conformacional de Fita Simples , SíndromeAssuntos
Diabetes Mellitus Tipo 1/epidemiologia , Estações do Ano , Adolescente , Criança , Pré-Escolar , Cuba/epidemiologia , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inherited GH receptor deficiency (GHRD; Laron syndrome) from five continents. All the mutations are located in the extracellular domain of the receptor and are predicted to cause gross structural abnormalities and non-functional receptor molecules. They include three nucleotide changes in the coding region causing translational stop signals, including the newly identified E183X mutation; two nucleotide changes in introns that affect splice junctions; two dinucleotide deletions that result in stop codons downstream; and one single nucleotide change that activates a donor splice site within an exon and results in a transcript missing 24 nucleotides. This latter mutation (E180splice) was first identified in a cohort of patients with GHRD from southern Ecuador. Based on the fact that the E180splice mutation generates a new cleavage site for the restriction enzyme MnlI, a simple diagnostic test has been developed that can be carried out on dried blood spots collected on filter paper. A total of 55 affected individuals from Ecuador has been found to be homozygous for this mutation. Asymptomatic carriers can also be detected, and 104 of 150 individuals screened were found to be carriers. Using this test, the E180splice mutation has recently been detected in one of two oriental Jewish patients from Israel.
Assuntos
Receptores da Somatotropina/deficiência , Receptores da Somatotropina/genética , Sequência de Bases , Equador , Éxons , Haplótipos , Humanos , Judeus , Dados de Sequência Molecular , Mutação , FenótipoAssuntos
Proteínas de Transporte/efeitos dos fármacos , Fator de Crescimento Insulin-Like I/uso terapêutico , Somatomedinas/efeitos dos fármacos , Proteínas de Transporte/metabolismo , Criança , Nanismo Hipofisário/tratamento farmacológico , Nanismo Hipofisário/metabolismo , Humanos , Proteínas de Ligação a Fator de Crescimento Semelhante a Insulina , Ligação Proteica/efeitos dos fármacos , Proteínas Recombinantes/uso terapêutico , Somatomedinas/metabolismo , SíndromeAssuntos
Substâncias de Crescimento/sangue , Fator de Crescimento Insulin-Like I/análise , Anticorpos/análise , Classificação , Substâncias de Crescimento/imunologia , Humanos , Fator de Crescimento Insulin-Like I/biossíntese , Hepatopatias/complicações , Distúrbios Nutricionais/complicações , Receptores da Somatotropina/análise , Receptores da Somatotropina/imunologia , Transdução de Sinais , Síndrome , Terminologia como AssuntoAssuntos
Antropometria/métodos , Testículo/anatomia & histologia , Adolescente , Humanos , MasculinoRESUMO
Of 108 children being treated at our Institute for primary (nongoitrous) hypothyroidism, tests with radioactive iodine 131I uptake showed that 26 of them (24%) had an ectopic thyroid gland. Four euthyroid children also had anterior swellings of the neck which, in each case, proved to be an ectopic thyroid gland. Of the 30 children studied, 20 were girls and 10 were boys. Nine patients were diagnosed within the first year of life. Growth retardation, manifest in 20 patients, was the most common clinical finding at the time of diagnosis. Delayed bone age was a feature in all of them. Growth, after diagnosis was within normal limits in 83% of the infants who were treated within the first two years of life; only 50% of the children diagnosed later grew within normal limits. Similarly, mental function was best preserved in those patients in whom treatment was initiated within the first two years of life.