Investigação de baixa estatura: aspectos clínicos, laboratoriais e moleculares da insensibilidade ao hormônio de crescimento

Jorge, Alexander Augusto de Lima; Pereira, Maria Adelaide Albergaria

doi:10.1590/s0004-27302008000600018

Cited by 3 publications

(2 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…De acordo com a etiologia, o distúrbio pode estar relacionado à síntese insuficiente de HGH ou a insensibilidade ao HGH (mais comum), o que pode ter motivos genéticos, endócrinos ou desordens sistêmicas. No primeiro caso, nota-se baixa concentração basal de HGH, enquanto em caso de receptor deficiente, o HGH basal encontra-se aumentado (PAULA, 2007;JORGE, 2008;TORTORA;DERRICKSON, 2017).…”

Section: Nanismo E Gigantismounclassified

“…Além disso, o diagnóstico deve incluir a investigação de fatores nutricionais, ambientais e psicológicos do indivíduo. Exames laboratoriais complementares envolvem hemograma (anemias), dosagens bioquímicas (avaliar estado nutricional, doenças renais e hepáticas), dosagem de hormônios tireoidianos, pesquisa de anticorpos ligados à doença celíaca e cariótipo (eliminar a suspeita de síndrome de Turner) (PAULA, 2007;JORGE, 2008). O diagnóstico do adenoma hipofisário associado ao gigantismo inclui ainda a realização de exames de imagem, como ressonância magnética e tomografia (ALPIZAR; MORALES; MARRERO, 2022).…”

Section: Editora Pascalunclassified

See 1 more Smart Citation

Desenvolvimento infantil e fatores determinantes: do clínico ao cirúrgico

Tannus¹,

Lima²,

Araujo³

et al. 2022

View full text Add to dashboard Cite

A infância corresponde a uma fase de extrema importância no ciclo de vida, intrínseca ao desenvolvimento em diversas áreas, como o desenvolvimento motor, emocional, cognitivo, linguagem e social, sendo nesse momento que habilidades afloram e serão refinadas ao longo da vida. Os estímulos provenientes do meio que em que a criança está inserida também se tornam fatores precipitantes para o sucesso e consolidação dessas habilidades. O desenvolvimento infantil tem início desde a fase intrauterina, sendo os primeiros anos de vida de maior relevância. A primeira infância, que compreende desde o nascimento até os 6 anos de idade da criança, é uma etapa fundamental para o seu desenvolvimento, pois é nesse período que ela está mais suscetível à influência de fatores favoráveis ou desfavoráveis, os quais podem gerar alterações que irão repercutir até a vida adulta. Nesse contexto, a implementação de tecnologias digitais de informação e comunicação também podem ser inseridas no campo do desenvolvimento infantil. Estratégias de orientações que abranjam pais são apostas para tentar reduzir problemas relacionados a esse desenvolvimento. A produção de tais tecnologias por profissionais qualificados, tem repercutido de forma positiva nesse contexto, através da orientação e conscientização de pais e/ou cuidadores. Desse modo, faz-se necessário estimular o aprofundamento e a divulgação de conhecimentos sobre os fatores que podem influenciar no desenvolvimento infantil, proporcionando o máximo de informações, pertinentes a essa etapa tão importante da vida, necessárias a sociedade de maneira geral.

show abstract

Section: Nanismo E Gigantismounclassified

Section: Editora Pascalunclassified

Desenvolvimento infantil e fatores determinantes: do clínico ao cirúrgico

Tannus¹,

Lima²,

Araujo³

et al. 2022

View full text Add to dashboard Cite

show abstract

Role of the GH-IGF1 axis on the hypothalamus–pituitary–testicular axis function: lessons from Laron syndrome

Cannarella

Crafa

Vignera

et al. 2021

Endocrine Connections

View full text Add to dashboard Cite

BACKGROUND. Animal studies suggest that insulin-like growth factor 1 (IGF1) may influence the function of the hypothalamus-pituitary-testicular axis, especially in childhood, but the evidence in humans is scanty. Laron syndrome, a human model of IGF1 deficiency, may help to solve this issue. PURPOSE. This systematic review aims to analyze puberty onset and progression, testicular volume, gonadotropin, and total testosterone serum levels, sperm parameters and fertility, and penile length in patients with Laron syndrome. METHODS. Specific key-words were used. All data on male patients with Laron syndrome were included. RESULTS. Seventeen articles matched the inclusion criteria and entered in the analysis, for a total of 125 male patients. Puberty was absent in 8.9% and delayed in 35.6% of untreated patients of pubertal age. After onset, the duration of the pubertal process was prolonged in 76.9% of untreated patients. The growth spurt was absent in 52.6% and delayed in 31.6% of untreated patients. The testicular volume was small in the two patients who did not receive any treatment. Treatment with IGF1 increased gonadotropin and testosterone serum levels in 5 out of 5 patients of pubertal age. No effect was found in 4 out of 4 patients younger than 5 years. No study reported data on sperm parameters and fertility. Micropenis occurred in 67.2% of patients. CONCLUSION AND FUTURE PERSPECTIVES. Delayed puberty is common in patients with Laron syndrome. The growth hormone-IGF1 axis may influence the time of puberty onset. Serum levels of IGF1 should be investigated in children with delayed puberty, scarce progression of testicular growth, and/or micropenis.IGF1 levels might be measured in children with delayed puberty, poor testicular growth, and/or micropenis.

show abstract

Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

et al. 2019

View full text Add to dashboard Cite

Laron's syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiagnosed. We report two sibs from a consanguineous family from Minas Gerais, southeastern Brazil. The parents have three children. The older, a 4-years-old girl was 80.2 cm tall (-5.7 SDS height/age), and the youngest sister, aged 3 years, was 73.2 cm tall (-5.82 SDS height/age). Their clinical and biochemical features are typical of LS patients, such as high serum level of GH and low IGF1 concentrations. A homozygous c.1A>T nucleotide substitution in GHR exon 2 in the probands' samples was identified. Their parents and healthy sister are heterozygous for the same variant that abolishes the translation initiation codon of GHR. This mutation has not been reported in Brazilian patients and was previously associated with an LS phenotype in a single 29-year-old Spanish man. In addition to this case report, we summarize the main characteristics and molecular data of the 21 LS Brazilian patients who have been published to date.Patients with LS have characteristic biochemical features, such as high (or normal) serum level of GH and low IGF1 concentration (Laron, 2004;Laron et al., 2012). Clinically it is characterized by dwarfism, obesity, small genitalia in the boys, and severe hypoglycemia. Patients present a typical head configuration, a small face and a protruding forehead, resulting in a saddle nose. Their voices are highpitched and they are sparse haired. Phenotypically they re-

show abstract

Investigação de baixa estatura: aspectos clínicos, laboratoriais e moleculares da insensibilidade ao hormônio de crescimento

Cited by 3 publications

References 33 publications

Desenvolvimento infantil e fatores determinantes: do clínico ao cirúrgico

Desenvolvimento infantil e fatores determinantes: do clínico ao cirúrgico

Role of the GH-IGF1 axis on the hypothalamus–pituitary–testicular axis function: lessons from Laron syndrome

Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

Contact Info

Product

Resources

About