Hormônio do crescimento ou somatotrófico: novas perspectivas na deficiência isolada de GH a partir da descrição da mutação no gene do receptor do GHRH nos indivíduos da cidade de Itabaianinha, Brasil

Souza, Anita H. O.; Salvatori, Roberto; Martinelli, Carlos Eduardo; Carvalho, Walter M.O.; Menezes, Carlos Alberto; Barretto, Elenilde S. De A.; Filho, José Augusto Soares Barreto; Alcántara, M.; Oliveira, Carla R. P.; Alcântara, Paula R.S. de; Ramalho, Roberto J. R.; Oliveira, Herbet Alves de; Lima, I.B.; Carneiro, Jamille N.; Santos, Marcos M.; Gill, Matthew S.; Clayton, Peter E.; Oliveira, M H A

doi:10.1590/s0004-27302004000300013

Cited by 9 publications

(7 citation statements)

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“…In Itabaianinha County, in the north‐eastern Brazilian state of Sergipe, we have identified an extended pedigree with approximately 100 individuals over seven generations with severe isolated GHD (IGHD) due to a homozygous null mutation (IVS1 + 1G → A) in the GHRH receptor (GHRH‐R) gene ( GHRH‐R ). All these subjects have very low serum GH and IGF‐1 levels at birth, resulting in severe short stature, with adult height ranging from 107 to 136 cm (–9·6 to –5·2 SD below normal) 4–6 . As many of the adult subjects from this kindred have never received GH treatment, they offer a unique opportunity to evaluate the final size of abdominal organs in the almost complete absence of GH and IGF‐1.…”

Section: Introductionmentioning

confidence: 99%

“…All these subjects have very low serum GH and IGF-1 levels at birth, resulting in severe short stature, with adult height ranging from 107 to 136 cm (-9·6 to -5·2 SD below normal). [4][5][6] As many of the adult subjects from this kindred have never received GH treatment, they offer a unique opportunity to evaluate the final size of abdominal organs in the almost complete absence of GH and IGF-1. We have already shown that these subjects have decreased limb size 6 and head circumference, reduced pituitary volume, 7 decreased thyroid volume 8 and decreased cardiac size.…”

Section: Introductionmentioning

confidence: 99%

“…[4][5][6] As many of the adult subjects from this kindred have never received GH treatment, they offer a unique opportunity to evaluate the final size of abdominal organs in the almost complete absence of GH and IGF-1. We have already shown that these subjects have decreased limb size 6 and head circumference, reduced pituitary volume, 7 decreased thyroid volume 8 and decreased cardiac size. 9,10 As stature reflects mostly the size of the bones, 11 the size of the abdominal organs may not be reduced proportionally to height.…”

Section: Introductionmentioning

confidence: 99%

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Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene

Oliveira

Salvatori

Nóbrega

et al. 2008

Clinical Endocrinology

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SummaryObjective-To assess the sizes of intra-abdominal organs of adult subjects with untreated severe congenital isolated GH deficiency (IGHD) due to lack of functional GHRH receptor (GHRH-R), and to verify whether there is proportionality between size of organ and adult stature and body surface area (BSA).Subjects and methods-By using ultrasound, we studied the sizes (absolute and corrected by height, weight and BSA) of the intra-abdominal organs of 18 adult subjects with IGHD (eight females, IGHD group) who have never received GH replacement therapy. They were all homozygous for the same null mutation (IVS1 + 1G → A) in the GHRH receptor gene (GHRH-R). They were compared with normal controls from the same region.Results-After correction for BSA, subjects lacking a functional GHRH-R have normal prostate and ovaries size, small spleen and uterus, and large liver, pancreas and kidney.Conclusions-Size of individual abdominal organs is influenced in different ways by severe and congenital lack of GH due to a GHRH-R mutation.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene

Oliveira

Salvatori

Nóbrega

et al. 2008

Clinical Endocrinology

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“…This is the largest cohort of patients with IGHD described to date. This mutation leads to a complete abolition of the GHRHR function and consequently affects GH secretion (Souza et al, 2005), leading to very low levels of GH and IGF-I (Aguiar-oliveira et al, 1999; Salvatori et al, 2006). These IGHD individuals have proportional short stature, doll face, high-pitched voices, and central obesity (Aguiar-Oliveira and Bartke, 2018).…”

Section: Introductionmentioning

confidence: 99%

Macrophages From Subjects With Isolated GH/IGF-I Deficiency Due to a GHRH Receptor Gene Mutation Are Less Prone to Infection by Leishmania amazonensis

Barrios

Campos

Peres

et al. 2019

Front. Cell. Infect. Microbiol.

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Isolated growth hormone (GH) deficiency (IGHD) affects approximately 1 in 4,000 to 1 in 10,000 individuals worldwide. We have previously described a large cohort of subjects with IGHD due to a homozygous mutation in the GH releasing hormone (GHRH) receptor gene. These subjects exhibit throughout the life very low levels of GH and its principal mediator, the Insulin Growth Factor-I (IGF-I). The facilitating role of IGF-I in the infection of mouse macrophages by different Leishmania strains is well-known. Nevertheless, the role of IGF-I in Leishmania infection of human macrophages has not been studied. This study aimed to evaluate the behavior of Leishmania infection in vitro in macrophages from untreated IGHD subjects. To this end, blood samples were collected from 14 IGHD individuals and 14 age and sex-matched healthy controls. Monocytes were isolated and derived into macrophages and infected with a strain of Leishmania amazonensis . In addition, IGF-I was added to culture medium to evaluate its effect on the infection. Cytokines were measured in the culture supernatants. We found that macrophages from IGHD subjects were less prone to Leishmania infection compared to GH sufficient controls. Both inflammatory and anti-inflammatory cytokines increase only in the supernatants of the control macrophages. Addition of IGF-I to the culture medium increased infection rates. In conclusion, we demonstrated that IGF-I is crucial for Leishmania infection of human macrophages.

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“…O GH tem importantes funções no organismo, além do papel que lhe sugere o nome (3). Neste trabalho será analisado o papel do GH sobre o crescimento, a composição corporal, os metabolismos lipídico, glicídico e ósseo, o risco cardiovascular, a vida reprodutiva e a qualidade de vida.…”

Section: Introductionunclassified

Conseqüências em longo prazo da deficiência do hormônio de crescimento

Oliveira

Pereira

Barreto‐Filho

et al. 2008

Arq Bras Endocrinol Metab

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RESUMOeste artigo descreve as conseqüências puras, em longo prazo, da deficiência isolada e vitalícia do hormônio de crescimento (gH) porque usa um modelo único de resistência ao hormônio liberador do gH (gHrH), em virtude da mutação homozigótica no gene do receptor do gHrH, em uma centena de indivíduos acometidos. elas incluem baixa estatura grave com estatura final entre -9,6 a -5,2 desvios-padrão abaixo da média, com redução proporcional das dimensões ósseas, redução do volume da adenohipófise corrigido para o volume craniano e da tireóide, do útero, do baço e da massa ventricular esquerda, todos corrigidos para a superfície corporal, em contraste com o tamanho de pâncreas e fígado, maior que o de controles, quando igualmente corrigidos. As alterações características da composição corporal incluem redução acentuada da quantidade de massa magra (kg) e aumento do percentual de gordura com depósito predominante no abdome. nos aspectos metabólicos são encontrados aumento de colesterol total e ldl, redução de insulina e do índice de resistência à insulina homeostasis model assessment, acompanhados de aumento da proteína c reativa de alta sensibilidade e da elevação da pressão arterial sistólica nos adultos, embora sem evidências de aterosclerose precoce. outros achados incluem resistência óssea menor, embora acima do limiar de fraturas, puberdade atrasada, fertilidade normal, paridade diminuída, climatério antecipado e qualidade de vida normal. ABSTRAcTLong Time Consequences of the Growth Hormone Deficiency. this article describes the long time consequences of the isolated and lifetime growth hormone (gH) deficiency using a single model of gH releasing hormone resistance (gHrH) due to a homozygous mutation in the gHrH receptor gene, in a hundred of subjects. these consequences include severe short stature with final height between -9.6 and -5.2 standard deviations below of the mean, with proportional reductions of the bone dimensions; reduction of the anterior pituitary corrected to cranial volume and the thyroid, the uterus, the spleen and left ventricular mass volume, all corrected to body surface, in contrast of pancreas and liver size, bigger than in controls, when equally corrected. Body composition features included marked reduction in the amount of fat free mass (kg) and increase of fat mass percentage, with predominant abdominal deposit. in the metabolic aspects, we find increase in the total cholesterol and ldl cholesterol; reduction of the insulin and the insulin resistance assessed by Homeostasis model assessment; increase of ultra sensitive c reactive protein and systolic body pressure in adults, although without evidences of premature atherosclerosis. other findings include smaller bone resistance, although above of the threshold of fractures, delayed puberty, normal fertility, small parity, anticipated climacteric and normal quality of life.

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Hormônio do crescimento ou somatotrófico: novas perspectivas na deficiência isolada de GH a partir da descrição da mutação no gene do receptor do GHRH nos indivíduos da cidade de Itabaianinha, Brasil

Cited by 9 publications

References 35 publications

Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene

Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene

Macrophages From Subjects With Isolated GH/IGF-I Deficiency Due to a GHRH Receptor Gene Mutation Are Less Prone to Infection by Leishmania amazonensis

Conseqüências em longo prazo da deficiência do hormônio de crescimento

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