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2.
Arch. argent. pediatr ; 121(4): e202202753, ago. 2023. graf
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1442571

ABSTRACT

Introducción. Los pequeños para la edad gestacional (PEG) suelen tener una talla final 1 DE bajo la media. Se diferencian tres grupos según antropometría al nacimiento: de peso reducido (PRN), de longitud reducida (LRN) o ambos. Objetivos. Describir las características de los pacientes PEG atendidos en el Servicio de Endocrinología Pediátrica de un hospital de tercer nivel, y analizar la evolución de niños PEG sin crecimiento recuperador a los 4 años de edad, en tratamiento con hormona del crecimiento (GH), según su diagnóstico. Métodos. Estudio retrospectivo de pacientes PEG atendidos desde 2004 hasta 2021. Resultados. Se estudiaron 89 PEG; 44/89 iniciaron tratamiento con GH (11/44 PRN, 8/44 LRN y 25/44 ambos). La edad media al diagnóstico fue de 3,87 años; la talla media al inicio del tratamiento fue de -2,99 DE en los PEG diagnosticados por PRN, -2,85 DE en aquellos diagnosticados por LRN y -3,17 DE en los diagnosticados por bajo PRN y LRN. La talla final fue de -1,77, -1,52 y -1,23 DE, respectivamente, lo que supone una ganancia total de 1,22, 1,33 y 1,93 DE, respectivamente, alcanzando así su talla diana con una diferencia de 0,36 ± 0,08 DE. Conclusión. Menos de la mitad de los PEG derivados a la consulta precisaron tratamiento con GH, por no tener la edad de 4 años aún, o haber completado el crecimiento recuperador. Aquellos pacientes PEG según peso y longitud al nacimiento presentaron percentiles peores al diagnóstico y una mayor respuesta a GH.


Introduction. Small for gestational age (SGA) children usually have a final height of 1 SD below the mean. Three groups are established based on anthropometric characteristics at birth: low birth weight (LBW), short birth length (SBL), or both. Objectives. To describe the characteristics of SGA patients seen at the Department of Pediatric Endocrinology of a tertiary care hospital and to analyze the course of SGA children without catch-up growth at 4 years of age who were receiving treatment with growth hormone (GH), according to their diagnosis. Methods. Retrospective study of SGA patients seen between 2004 and 2021. Results. A total of 89 SGA children were studied; 44/89 started treatment with GH (11/44 LBW, 8/44 SBL, and 25/44 both). Their mean age at diagnosis was 3.87 years; their mean height at treatment initiation was -2.99 SD in SGA children diagnosed by LBW, -2.85 SD in those with SBL, and -3.17 SD in those with both LBW and SBL. Their final height was -1.77, -1.52, and -1.23 SD, respectively, with a total gain of 1.22, 1.33, and 1.93 SD, respectively, thus reaching their target height with a difference of 0.36 ± 0.08 SD. Conclusion. Less than half of SGA children referred to the clinic required treatment with GH because they were not yet 4 years old or had not completed their catch-up growth. SGA patients according to birth weight and length had worse percentiles at diagnosis and a greater response to GH.


Subject(s)
Humans , Child, Preschool , Body Height , Human Growth Hormone/therapeutic use , Growth Hormone , Retrospective Studies , Gestational Age
3.
Chinese Journal of Medical Genetics ; (6): 795-801, 2023.
Article in Chinese | WPRIM | ID: wpr-981825

ABSTRACT

OBJECTIVE@#To analyze the clinical features of 3M syndrome and effect of growth hormone therapy.@*METHODS@#Clinical data of four children diagnosed with 3M syndrome by whole exome sequencing at Hunan Children's Hospital from January 2014 to February 2022 were retrospectively analyzed, which included clinical manifestation, results of genetic testing and recombinant human growth hormone (rhGH) therapy. A literature review was also carried our for Chinese patients with 3M syndrome.@*RESULTS@#The clinical manifestations of the 4 patients included severe growth retardation, facial dysmorphism and skeletal malformations. Two patients were found to harbor homozygous variants of CUL7 gene, namely c.4717C>T (p.R1573*) and c.967_993delinsCAGCTGG (p.S323Qfs*33). Two patients were found to harbor 3 heterozygous variants of the OBSL1 gene including c.1118G>A (p.W373*), c.458dupG (p.L154Pfs*1002) and c.690dupC (p.E231Rfs*23), among which c.967_993delinsCAGCTGG and c.1118G>A were unreported previously. Eighteen Chinese patients with 3M syndrome were identified through the literature review, including 11 cases (11/18, 61.1%) carrying CUL7 gene variants and 7 cases (7/18, 38.9%) carrying OBSL1 gene variants. The main clinical manifestations were in keeping with previously reported. Four patients were treated with growth hormone, 3 showed obvious growth acceleration, and no adverse reaction was noted.@*CONCLUSION@#3M syndrome has a typical appearance and obvious short stature. To attain accurate diagnosis, genetic testing should be recommended for children with a stature of less than -3 SD and facial dysmorphism. The long-term efficacy of growth hormone therapy for patients with 3M syndrome remains to be observed.


Subject(s)
Humans , Child , Retrospective Studies , Dwarfism/genetics , Muscle Hypotonia/genetics , Growth Hormone/therapeutic use , Cytoskeletal Proteins/genetics
4.
Philippine Journal of Reproductive Endocrinology and Infertility ; : 12-23, 2023.
Article in English | WPRIM | ID: wpr-984293

ABSTRACT

Background@#Growth hormone has been used as an adjunct in ovarian stimulation of IVF cycles for the past three decades. However, the exact mechanism of its role in improving oocyte quality has not been thoroughly investigated. Although a clear indication for GH co-treatment is in infertile women with GH deficiency, GH has been given mostly to poor ovarian responders.@*Method@#This paper is a review of the most recent published data on the role of GH supplementation in improving oocyte quality in younger women who are suboptimal or unexpected poor responders to standard ovarian stimulation.@*Results@#Retrospective cohort and randomized trials demonstrated an improvement in oocyte quality through morphological parameters, mitochondrial function, biomarkers, GH receptors, insulin growth factor, markers of oxidative stress, mature oocytes, good quality embryos, implantation rate, clinical pregnancy and live birth.@*Conclusion@#Current data suggest GH supplementation may improve oocyte and embryo qualities, endometrial receptivity, clinical pregnancy and live birth. However, better quality evidence is needed before a recommendation can be made for GH supplementation to be given to infertile women who are suboptimal or poor ovarian responders.


Subject(s)
Growth Hormone , Insulin-Like Growth Factor I
5.
J. pediatr. (Rio J.) ; 97(6): 595-602, Nov.-Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1350976

ABSTRACT

Abstract Objective: To discuss the approach to patients diagnosed with growth hormone deficiency (GHD) in childhood during the transition period from puberty to adulthood, focusing on the following: (1) physiology; (2) effects of recombinant human GH (rhGH) interruption/reinstitution after adult height achievement; (3) re-evaluation of somatrotropic axis; (4) management of rhGH reinstitution, when necessary. Source of data: Narrative review of the literature published at PubMed/MEDLINE until September 2020 including original and review articles, systematic reviews and meta-analyses. Synthesis of data: Growth hormone is crucial for the attainment of normal growth and for adequate somatic development, which does not end concomitantly with linear growth. Retesting adolescents who already meet the criteria that predict adult GHD with high specificity is not necessary. Patients with isolated GHD have a high likelihood of normal response to GH testing after puberty. Adolescents with confirmed GHD upon retesting should restart rhGH replacement and be monitored according to IGF-I levels, clinical parameters, and complementary exams. Conclusion: Patients with isolated idiopathic GHD in childhood are a special group who must be reevaluated for GHD as many of them have normal GH provocative tests upon retesting after puberty. Patients who confirm the persistence of GHD in the transition period should maintain rhGH replacement in order to reach an ideal peak bone mass, satisfactory body composition, lipid and glucose profiles, and quality of life.


Subject(s)
Humans , Child , Adolescent , Adult , Human Growth Hormone , Transition to Adult Care , Quality of Life , Insulin-Like Growth Factor I , Growth Hormone , Puberty
6.
Oncología (Guayaquil) ; 31(2): 131-140, 31 de agosto 2021.
Article in Spanish | LILACS | ID: biblio-1284451

ABSTRACT

Introducción: La acromegalia se produce por un adenoma hipofisario somatotropo, que secreta una excesiva producción de GH e IGF1, se relaciona con mayor riesgo de tumores malignos, no guardando asociación con un patrón especifico de presentación y el objetivo de este estudio es analizar la evolución del cáncer papilar de tiroides en acromegalia. Casos: Se trata de tres pacientes diagnosticados de carcinoma papilar de tiroides (CPT) con diferente pronóstico, con características faciales, y sintomatología como cefalea, alteraciones del campo visual, alteraciones menstruales, que condujeron a la realización de estudios bioquímicos, de imagen y al diagnóstico de acromegalia. Evolución: La aparición de cáncer de tiroides varía en el tiempo de evolución de la acromegalia, en dos de los casos lo antecedió y en el tercero se presentó a la par con esta patología. La respuesta al tratamiento en el CPT es indeterminada en la primera paciente y \excelente en los otros casos; en una paciente se alcanzó remisión. Conclusiones: la coexistencia de acromegalia con cáncer tiroides es posible, que los cambios acrales, faciales y la sintomatología expansiva del tumor conducen al diagnóstico de acromegalia y que la identificación de malignidades no guarda relación con la evolución de la enfermedad.


Introduction: Acromegaly is produced by a somatotropic pituitary adenoma, which secretes an excessive production of GH and IGF1, it is related to a higher risk of malignant tumors, not being associated with a specific pattern of presentation and the objective of this study is to analyze the evolution of papillary thyroid cancer in acromegaly. Cases report: These were three patients diagnosed with CPT with different prognosis, with facial characteristics, and symptoms such as headache, visual field alterations, menstrual alterations, which led to biochemical and imaging studies and the diagnosis of acromegaly. Evolution: The appearance of thyroid cancer in the time of evolution of acromegaly is different, in two of the cases it preceded it and in the third it was presented alongside this pathology. The re-sponse to treatment in CPT is indeterminate in the first patient and excellent in the other cases; re-mission was achieved in one patient. Conclusions: It is concluded that the coexistence of acromegaly with thyroid cancer is possible, that the acral and facial changes and the expansive symptomatology of the tumor lead to the diag-nosis of acromegaly and that the identification of malignancies is not related to the evolution of the disease.


Introdução: A acromegalia é produzida por um adenoma hipofisário somatotrópico, que secreta uma produção excessiva de GH e IGF1, está relacionada a um maior risco de tumores malignos, não estando associada a um padrão específico de apresentação e o objetivo deste estudo é analisar a evolução de câncer papilar de tireoide na acromegalia. Casos: São três pacientes com diagnóstico de carcinoma papilífero de tireoide (CPT) de prognóstico diferente, com características faciais e sintomas como cefaleia, alterações do campo visual, alterações menstruais, que levaram à realização de estudos bioquímicos, de imagem e diagnóstico de acromegalia. Evolução: O aparecimento do câncer de tireoide varia com o tempo de evolução da acromegalia, em dois dos casos ela o precedeu e no terceiro foi apresentado concomitantemente a esta patologia. A resposta ao tratamento no CPT é indeterminada no primeiro paciente e excelente nos demais casos; a remissão foi alcançada em um paciente. Conclusões: a coexistência de acromegalia com câncer de tireoide é possível, que as alterações acrais e faciais e a sintomatologia expansiva do tumor levam ao diagnóstico de acromegalia e que a identificação de neoplasias não está relacionada à evolução da doença.


Subject(s)
Humans , Adult , Middle Aged , Growth Hormone , Thyroid Cancer, Papillary , Iodine Radioisotopes , Thyroglobulin/classification , Thyrotropin , Suppression , Endothelial Growth Factors
7.
Rev. bras. ciênc. mov ; 29(2): [1-15], abr.-jun. 2021. tab, ilus, graf
Article in Portuguese | LILACS | ID: biblio-1366584

ABSTRACT

O objetivo deste estudo foi avaliar o efeito da aplicação de hormônio do crescimento (Growth Hormone - GH) e treinamento de força (TF) na composição do tecido ósseo de ratos Wistar a partir da Espectroscopia Raman. 40 ratos machos foram distribuídos de forma aleatória em quatro grupos: controle (C [n=10]), controle a aplicação de GH (GHC [n=10]), treinamento de força (T [n=10]) e treinamento de força e aplicação de GH (GHT [n=10]). O treinamento foi composto por quatro séries de 10 saltos aquáticos, realizados três vezes por semana, com sobrecarga correspondente a 50% do peso corpóreo e duração de quatro semanas. O GH foi aplicado na dose de 0,2 UI/Kg em cada animal, três vezes por semana e em dias alternados. Ao final do experimento, os animais foram eutanasiados e coletados os fêmures direitos para realização da análise da composição óssea. A espectroscopia Raman (ER) foi utilizada para observar os seguintes compostos a partir de suas respectivas bandas: colágeno e fosfolipídio (1445 cm-1), colesterol (548 cm-1), glicerol (607 cm-1), glicose (913 cm-1), Pico de carboidrato (931 cm-1 ) e prolina (918 cm-1 ). Para a análise estatística, foram realizados os testes de normalidade de Shapiro-Wilk e análise de variâncias ANOVA one-way, seguida pelo pós-teste de Tukey. Os resultados revelaram aumento nas concentrações de colágeno e fosfolipidio, colesterol, glicerol, glicose, pico de carboidrato e prolina em todos os grupos experimentais, associados ou não à realização do ST e/ou aplicação de GH. Porém, somente o grupo T diferiu significativamente do grupo C (p<0,05). Conclui-se que todas intervenções puderam promover ganho no tecido ósseo, porém, somente o grupo T demonstrou diferença significativa nos compostos minerais analisados. (AU)


The objective of this study was to evaluate the effect of the application of growth hormone (GH) and strength training (TF) on the bone tissue composition of Wistar rats using Raman Spectroscopy. 40 male rats were randomly assigned to four groups: control (C [n = 10]), control the application of GH (GHC [n = 10]), strength training (T [n = 10]) and training of strength and application of GH (GHT [n = 10]). The training consisted of four series of 10 water jumps, performed three times a week, with an overload corresponding to 50% of body weight and lasting four weeks. GH was applied at a dose of 0.2 IU / kg to each animal, three times a week and on alternate days. After four weeks, the animals were euthanized and the right femurs were collected to carry out the analysis of the bone composition. Raman spectroscopy (ER) was used to observe the following compounds from their respective bands: collagen and phospholipid (1445 cm-1), cholesterol (548 cm-1), glycerol (607 cm-1), glucose (913 cm-1), Peak carbohydrate (931 cm-1), proline (918 cm-1). For statistical analysis, the Shapiro-Wilk normality tests and ANOVA One-Way analysis of variances were performed, followed by the Tukey post-test. The results revealed an increase in the concentrations of collagen and phospholipid, cholesterol, glycerol, glucose, peak carbohydrate and proline in all experimental groups, associated or not with the performance of ST and / or application of GH. However, only group T differed significantly from group C (p <0.05). It was concluded that all intervention could promote gain in bone tissue, however, only the T group showed a significant difference in the analyzed mineral compounds. (AU)


Subject(s)
Animals , Rats , Spectrum Analysis , Bone and Bones , Exercise , Rats, Wistar , Resistance Training , Femur , Metabolism , Phospholipids , Spectrum Analysis, Raman , Body Weight , Proline , Growth Hormone , Carbohydrates , Cholesterol , Analysis of Variance , Collagen , Glycerol , Lipids
8.
Rev. argent. neurocir ; 35(1): 12-27, mar. 2021. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1397339

ABSTRACT

Las lesiones selares son una patología con una incidencia de 3,2 a 4 / 100,000 y una prevalencia de 78 a 94 / 100,000. Un 10% son incidentalomas en la población adulta. Se cree que su prevalencia en el orden mundial actualmente va en aumento.En relación a las manifestaciones clínicas, cabe destacar que es una de las pocas enfermedades que pueden manifestarse tanto por signos y síntomas neurológicos (por ejemplo: hemianopsia bitemporal, síndrome de hipertensión endocraneana debido a hidrocefalia, entre otros), como también por síndromes endocrinológicos (por ejemplo: síndrome de Cushing, acromegalia, amenorrea-galactorrea, infertilidad).Todo paciente debe presentar un estudio clínico-radiológico completo, lo que permitirá un correcto diagnóstico y categorización del mismo.El objetivo del presente trabajo es proporcionar al neurocirujano en formación los conceptos claves que servirán de sustento para el manejo preoperatorio de un paciente con adenoma hipofisario.


Sellar lesions are a pathology with an incidence of 3.2 to 4 / 100.000 and a prevalence of 78 to 94 / 100.000. Normally, 10% of them are incidentalomas and adult patients are in the highest risk group. Because it ́s prevalence in the world is currently increasing, it is of extremely importance to study and understand this pathology. In relation to the clinical manifestations, it should be noted that it is one of the few diseases that can manifest through neurological signs and symptoms like bitemporal hemianopsia, endocranial hypertension syndrome due to hydrocephalus, as well as endocrinological syndromes like Cushing's, acromegaly, amenorrhea-galactorrhea and infertility. One of the most important things to notice is that the treatment success in this pathology comes with the correct diagnosis and characterization of it, for what all patients should have a complete clinical-radiological evaluation.In this study, we establish a guide with concepts and key tools to support the medical personal during a pre-surgical preparation of patients with pituitary adenoma.


Subject(s)
Adenoma , Pituitary Neoplasms , Prolactin , Growth Hormone , Hydrocephalus , Neurologic Manifestations , Neurosurgery
9.
Journal of the ASEAN Federation of Endocrine Societies ; : 95-97, 2021.
Article in English | WPRIM | ID: wpr-961974

ABSTRACT

@#Pituitary stalk lesions can represent a wide range of pathologies. The exact cause is often unknown due to hesitancy to proceed with biopsy. We present a 16-year-old adolescent who presented with delayed puberty, short stature and bilateral cryptorchidism. He was found to have a thickened pituitary stalk of uncertain etiology with partial hypopituitarism (gonadotrophin and growth hormone deficiency) on further assessment. The presence of bilateral cryptorchidism and micropenis represents lack of “mini puberty,” a phenomenon of activation of the hypothalamic-pituitary-gonadal (HPG) axis in-utero or within the first few months of life.1 These key clinical features have been useful to establish an early temporal relationship and suggest a congenital origin of disease. This enabled a more conservative approach of surveillance to be employed as opposed to invasive pathological examination with pituitary stalk biopsy.


Subject(s)
Pituitary Diseases , Hypopituitarism , Cryptorchidism , Growth Hormone
10.
Chinese Journal of Biotechnology ; (12): 1249-1259, 2021.
Article in Chinese | WPRIM | ID: wpr-878628

ABSTRACT

The aim of this study was to investigate the expression of growth hormone (GH) gene on skeletal muscle cell proliferation of Guizhou cattle. The coding sequence of cattle GH gene was amplified by reverse transcription PCR, cloned into the pUCM-T vector and then used to construct the GH gene overexpression vector pEGFP-N3-GH. The expression of the GH gene in skeletal muscle-related tissues (psoas major and longissimus dorsi) of Guizhou cattle was determined by real-time fluorescent quantitative PCR (RT-qPCR). This was followed by culturing and identification of the bovine primary skeletal muscle cells. Subsequently, we introduced the GH gene overexpression vector into the cells to investigate its effect on the proliferation of bovine skeletal muscle cells and the expression of insulin like growth factor 1 and 2 genes related to skeletal muscle growth and development. RT-qPCR results showed that the expression level of GH gene was higher in the psoas major than in the longissimus dorsi of Guizhou cattle, and the expression level in the psoas major of Guanling cattle and Weining cattle was significantly higher than in the longissimus dorsi (P<0.05). The transfection and proliferation results showed that pEGFP-N3-GH significantly increased the expression of GH, IGF-1, and IGF-2 genes in skeletal muscle cells compared to pEGFP-N3 (PP<0.05), and that overexpression of the GH gene also significantly increased the proliferation rate of skeletal muscle cells at the four periods examined (PP<0.01). Our results suggest that GH gene can promote the proliferation of skeletal muscle cells of Guizhou cattle and exerts a positive regulatory effect. This lays the foundation for further exploring the mechanism by which the GH gene affects the growth and development of Guizhou cattle.


Subject(s)
Animals , Cattle , Cell Proliferation , Cloning, Molecular , Growth Hormone/genetics , Insulin-Like Growth Factor I/genetics , Muscle, Skeletal
11.
Arq. Ciênc. Vet. Zool. UNIPAR (Online) ; 23(2, cont.): e2303, jul-dez. 2020.
Article in Portuguese | LILACS, VETINDEX | ID: biblio-1129395

ABSTRACT

A maioria dos estudos sobre o uso da somatotropina bovina recombinante (rbST) foram conduzidos em países de clima temperado utilizando animais de genética Bos taurus e todo o protocolo de utilização foi pautado para tais animais e extrapolados aos mestiços (Bos taurus x Bos indicus) em ambientes tropicais. No entanto, existem características diferenciadas da curva de produção de leite e alguns aspectos fisiológicos que diferem os mestiços dos taurinos, sendo assim, estabelecer padrões específicos para uso do rbST para vacas mestiças podem melhorar a eficiência, reduzir custos e expandir o uso da tecnologia para os sistemas brasileiros. Estabelecer ajuste da dosagem, o intervalo, o melhor tempo para início e término da aplicação, avaliar o melhor retorno financeiro do uso para o sistema produtivo assim como as respostas produtivas e reprodutivas das vacas pode trazer adequação do uso da tecnologia no sistema de produção de gado mestiço leiteiro. O objetivo da revisão é identificar critérios a serem considerados para uso do rbST em vacas mestiças a fim de potencializar a estratégia do uso do mesmo. O rbST promove notório aumento da produção de leite e mais detalhes do protocolo de uso do hormônio para vacas mestiças necessita ser avaliado já que algumas características da curva de leite e capacidade produtiva são diferentes para animais cruzados.(AU)


Most studies on the use of recombinant bovine somatotropin (rbST) were conducted in countries with temperate climates using Bos taurus animals and the entire use protocol was based on such animals and extrapolated to crossbred animals (Bos taurus x Bos indicus) in tropical environments. However, there are different characteristics in the milk production curve and some physiological aspects that differentiate the crossbred from those cattle. Therefore, the establishment of specific standards for the use of rbST for crossbred cattle can improve efficiency, reduce costs, and expand the use of technology to Brazilian systems. Establishing dosage adjustment, the interval, the best time to start and end the application, evaluating the best financial return from use on the productive system, as well as the productive and reproductive responses of the cows can help foster the adequacy of the use of technology in the production system of crossbred dairy cattle. The purpose of this review is to identify criteria to be considered for the use of rbST in crossbred cows in order to enhance the strategy of using it. The use of rbST promotes a noticeable increase in milk production; however, further details of the hormone use protocol for crossbred cows need to be evaluated since some characteristics of the milk curve are different for crossbred animals.(AU)


La mayoría de los estudios sobre el uso de somatotropina bovina recombinante (rbST) se han realizado en países de clima templado utilizando animales de genética Bos taurus y todo el protocolo de utilización se ha pautado para tales animales y extrapolados a los mestizos (Bos taurus x Bos indicus) en ambientes tropicales. Sin embargo, existen diferentes características de la curva de producción de leche y algunos aspectos fisiológicos que diferencian al mestizo de los toros, por lo tanto, establecer estándares específicos para el uso de rbST para vacas mestizas puede mejorar la eficiencia, reducir costos y expandir el uso de tecnología para Sistemas brasileños. Establecer el ajuste de dosis, el intervalo, el mejor momento para iniciar y finalizar la aplicación, evaluar el mejor retorno económico del uso para el sistema productivo, así como las respuestas productivas y reproductivas de las vacas pueden propiciar la adecuación del uso de la tecnología en el sistema de producción de ganado mestizo lechero. El propósito de la revisión es identificar los criterios que se deben considerar para el uso de rbST en vacas mestizas con el fin de mejorar la estrategia de uso. El rbST promueve un aumento notable en la producción de leche y es necesario evaluar más detalles del protocolo de uso de hormonas para vacas cruzadas, ya que algunas características de la curva de la leche son diferentes para los animales cruzados.(AU)


Subject(s)
Animals , Female , Cattle , Cattle/physiology , Cattle/genetics , Growth Hormone , Growth Hormone/genetics , Milk , Efficiency
12.
Arch. endocrinol. metab. (Online) ; 64(4): 487-491, July-Aug. 2020. graf
Article in English | LILACS | ID: biblio-1131113

ABSTRACT

SUMMARY CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained. We report a girl with CHARGE syndrome due to a de novo frameshift mutation in the CHD7 gene (c.2509_2512delCATT), in whom recurrent hypoglycaemia led to the diagnosis of GH deficiency in the second month of life. Early initiation of treatment with recombinant GH resulted in normal growth over ten years of follow-up. This case is the youngest reported CHARGE patient to be diagnosed and treated for GH deficiency and demonstrates that GH deficiency in CHARGE syndrome may manifest early in life through hypoglycaemia, before growth retardation is noted, and can be successfully treated with recombinant GH.


Subject(s)
Humans , Female , Infant, Newborn , CHARGE Syndrome , Growth Hormone , Human Growth Hormone , Mutation
13.
Rev. méd. Hosp. José Carrasco Arteaga ; 12(2): 130-134, 31-07-2020. Tablas, Ilustraciones
Article in Spanish | LILACS | ID: biblio-1179075

ABSTRACT

INTRODUCCIÓN: La acromegalia es una enfermedad crónica, progresiva y multisistémica causada por la hipersecreción de la hormona de crecimiento de un macroadenoma hipofisario en funcionamiento. Ciertas características clínicas de esta patología son de interés anestésico sobre todo aquellas que afectan la vía aérea superior, los sistemas respiratorio y cardíaco y el sistema metabólico. CASO CLÍNICO: Paciente de sexo masculino de 34 años de edad, que presentó incremento progresivo de tamaño de pies, manos, nariz, huesos del cráneo y aumento del tamaño de la lengua, diagnosticado de acromegalia por macroadenoma hipofisiario productor de hormona de crecimiento. Se sumaron más tarde SAHOS severo, insuficiencia mitral y tricúspidea leve; motivo por el cual se programa para resección de macroadenoma hipofisiario por acceso transepto-esfenoidal. Durante la evaluación preanestésica el paciente fue catalogado como Riesgo Quirúrgico ASA III, Riesgo Cardiaco de Lee 0.04 %, NYHA I, probabilidad alta de vía aérea difícil. Transquirúrgico: Inducción anestésica con propofol, 120 mg, remifentanilo 0.2 mcg/kg/min, rocuronio 50 mg. Se logró intubación orotraqueal atraumática utilizando McCoy hoja N4, con tubo endotraqueal reforzado N 7.5. EVOLUCIÓN: Fue llevado a Terapia Intensiva donde permaneció para control posquirúrgico. El paciente permaneció hospitalizado durante 7 días y fue dado de alta en condiciones estables, sin déficit neurológico. Se mantiene aún en seguimiento por el SAHOS severo que presenta. Se ha reportado que han mejorado sus episodios de apnea nocturna. CONCLUSION: Los pacientes con enfermedad de la glándula pituitaria sometidos a cirugía pueden presentar una serie de desafíos anestésicos, desde el manejo de la vía aérea hasta cambios hemodinámicos y ventilatorios importantes durante el procedimiento quirúrgico. Es importante prever y prevenir las complicaciones y corregirlas a tiempo, para evitar lesiones irreversibles que aumenten la morbilidad del paciente.(au)


BACKGROUND: Acromegaly is a chronic, progressive and multisystemic disease caused by growth hormone hypersecretion by a functioning pituitary macroadenoma. Some clinical features of this disease are important for anesthetic management, especially those that affect the upper airway, and the cardiac, respiratory and metabolic systems. CASE REPORT: Male 34 year old patient, with progressive increase of feet, hands, nose, skull bone and tongue size, diagnosed with acromegaly caused by growth hormone producing pituitary macroadenoma. Later he presents with severe SAHOS, mitral and mild tricuspid insufficiency; so transsphenoidal resection of pituitary macroadenoma was programed. During preanesthetic evaluation was classified as ASA III Surgical Risk, Lee Cardiac Risk 0.04%, NYHA I, and high probability of difficult airway. The anesthetic induction scheme was: propofol 120 mg, remifentanil 0.2 mcg / kg / min, rocuronium 50 mg. Atraumatic orotracheal intubation using McCoy leaf N4, with reinforced endotracheal tube N 7.5 was achieved. EVOLUTION: The patient was taken to Intensive Care Unit for post-surgical control. The patient remained hospitalized for 7 days and was discharged in stable condition without neurological deficit. He is still in follow up of the severe SAHOS. It has been reported improvement of the episodes of night apnea. CONCLUSION: Patients with pituitary gland disease undergoing surgery can present some anesthetic challenges, from the airway management, to the important hemodynamic and ventilatory challenges during the surgical procedure. It is important to anticipate and prevent the possible complications and correct them in time in order to avoid irreversible injuries that increase the patient's morbidity.(au)


Subject(s)
Humans , Male , Adult , Acromegaly , Growth Hormone , Critical Care , Growth , Anesthetics , Risk
14.
Arq. bras. med. vet. zootec. (Online) ; 72(3): 879-888, May-June, 2020. tab, graf
Article in Portuguese | LILACS, VETINDEX | ID: biblio-1129561

ABSTRACT

Dez éguas, sem raça definida, foram submetidas a avaliações ultrassonográficas durante o intervalo interovulatório, avaliando-se folículos ≥ 5mm. Cinco éguas foram tratadas com 500mg de r-bST no primeiro e no 14º dia pós-ovulação (grupo GT), e as demais com soro fisiológico (grupo GC). Quando o folículo dominante atingiu diâmetro ≥ 40mm, foram induzidas com hCG e inseminadas 24 horas após, sendo submetidas à coleta de embrião seis dias após a ovulação. Os dados foram agrupados de acordo com o diâmetro do folículo dominante nas fases de emergência, divergência, dominância, pré-ovulatória, indução, inseminação e ovulação. Todas as éguas foram usadas duas vezes, no mesmo grupo. O GT apresentou crescimento folicular precoce para as fases de emergência, divergência, dominância e pré-ovulatória, assim como para o seu maior folículo subordinado, que cresceu mais cedo. As taxas de recuperação foram de 90% (GC) e 70% (GT), em 16 estruturas coletadas, obtendo-se uma não fecundada e um blastocisto inicial para o grupo GC; os demais, no estágio de mórula, apresentaram comportamento semelhante entre os grupos. Conclui-se que a r-bST influencia a dinâmica folicular de éguas, levando a uma antecipação do desenvolvimento folicular, que pode ser utilizada para encurtar o ciclo estral.(AU)


Ten undefined mare breeds were submitted to ultrasonographic evaluations during the interovulatory interval, evaluating follicles measuring ≥ 5mm. Five mares were treated with 500mg r-bST on the first and the 14th day after ovulation (TG group), and the others with saline (CG group). When the dominant follicle reached a diameter ≥ 40mm the ovulation was induced with hCG, and the mares were inseminated 24 hours later and submitted to embryo collection six days after ovulation. The data were grouped according to the diameter of the dominant follicle in the emergence, divergence, dominance, preovulatory, induction, insemination and ovulation phases. All mares were used twice, in the same group. The GT showed early follicular growth for the emergence, divergence, dominance and pre-ovulatory phases, as well as for its greater subordinate follicle, growing earlier. The recovery rates were 90% (CG) and 70% (TG), and 16 structures were collected, obtaining an unfertilized embryo and an initial blastocyst for the CG group, the others in the morula stage behaved similarly between the groups. It can be concluded that r-bST influences the follicular dynamics of the mares, leading to an anticipation of the follicular development that can be used to shorten the estrous cycle.(AU)


Subject(s)
Animals , Female , Pregnancy , Recombinant Proteins/analysis , Growth Hormone/analysis , Embryonic Development , Ovarian Follicle/growth & development , Horses/embryology , Ultrasonography/veterinary
15.
Rev. colomb. nefrol. (En línea) ; 7(1): 149-177, ene.-jun. 2020. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1144383

ABSTRACT

resumen está disponible en el texto completo


Abstract In Colombia there are no guidelines for diagnosis and management of patients with short stature and for the use of recombinant human growth hormone, mainly caused by the diversity of training centers in pediatric endocrinology. In response to this situation, the Asociación Colegio Colombiana de Endocrinología Pediátrica leds the first colombian short stature expert committee in order to standardize the use of human recombinant growth hormone. This work had the participation and endorsement of a consortium of clinical experts representing the Sociedad Colombiana de Pediatría, Secretaría Distrital de Salud de Bogotá- Subred Integrada de Servicios de Salud Suroccidente, Fundación Universitaria Sanitas, Universidad de los Andes and some public and private health institutions in the country, in addition to the participation of methodological experts from the Instituto Global de Excelencia Clínica Keralty. By reviewing the literature and with the best available evidence, we proposed to unify definitions, a diagnostic algorithm, biochemical and dynamic tests with their reference parameters, a description of the considerations about growth hormone use among the indications approved by regulatory agency for medications and food in Colombia and finally a proposal for an informed consent and a medication fact sheet available for parents and patients.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Growth Hormone , Weight Loss , Colombia , Endocrinology
16.
Arq. bras. med. vet. zootec. (Online) ; 72(1): 25-32, Jan.-Feb. 2020. tab, graf
Article in Portuguese | LILACS, VETINDEX | ID: biblio-1088924

ABSTRACT

A fim de avaliar o efeito de diferentes doses da rbST sobre a dinâmica folicular, a produção e a maturação in vitro de oócitos, 20 vacas Sindi, divididas em três grupos, receberam um dispositivo de progesterona intravaginal, estradiol e PGF2α, além de 2mL de solução salina (grupo controle), 250 (grupo rbST 250) ou 500mg de rbST (grupo rbST 500). Cinco dias depois, realizou-se a ovum pick up, e os complexos cumulus-oócitos (CCOs) recuperados foram selecionados, classificados e maturados in vitro. Os dados de contagem foram comparados pelo procedimento glht (General Linear Hypothesis Test), e os dados em porcentagem foram submetidos ao qui-quadrado, no programa estatístico R, onde as diferenças foram consideradas significativas quando P<0,05. Não houve diferença (P>0,05) entre os grupos quanto à quantidade de folículos e à taxa de maturação. Os grupos rbST 250 e rbST 500 foram significativamente superiores (P<0,05) ao grupo controle em relação ao número de folículos grandes (0,42±0,20 vs. 0). O grupo rbST 500 apresentou maior (P<0,05) porcentagem de oócitos viáveis (91,52%) do que os grupos controle (67,85%) e rbST 250 (53,33%). A rbST aumenta o número de folículos grandes, e 500mg de rbST aumentam a porcentagem de oócitos viáveis em vacas Sindi.(AU)


In order to evaluate the effect of different doses of rbST on the follicular dynamics, production, and in vitro maturation of oocytes, 20 Sindhi cows were divided into three groups, receiving an intravaginal progesterone device, estradiol and PGF2α, and 2mL of solution saline (Control Group), 250 (rbST 250 Group) or 500mg rbST (rbST 500 Group). Five days later, the ovum pick up was performed, and the cumulus-oocyte (CCO) complexes recovered were selected, classified, and matured in vitro. The counting data were compared by the glht (General Linear Hypothesis Test) procedure, and the percentage data were submitted to Qui- square, in the statistical program R, where differences were considered significant when P< 0.05. There was no difference (P> 0.05) between the groups regarding follicle quantity and maturation rate. The rbST 250 and rbST 500 groups were significantly higher (P< 0.05) than the Control group in relation to the number of large follicles (0.42±0.20 versus 0). The rbST 500 group presented higher (P< 0.05) percentage of viable oocytes (91.52%) than the Control (67.85%) and rbST 250 (53.33%) groups. rbST increases the number of large follicles and 500mg rbST increases the percentage of viable oocytes in Sindhi cows.(AU)


Subject(s)
Animals , Female , Cattle , Oocytes , Ovulation Induction/veterinary , Growth Hormone/administration & dosage , In Vitro Oocyte Maturation Techniques/veterinary
17.
Rev. chil. endocrinol. diabetes ; 13(4): 150-153, 2020. ilus
Article in Spanish | LILACS | ID: biblio-1123620

ABSTRACT

Los adenomas hipofisarios ectópicos (EPA) constituyen un reto diagnóstico, dada su escasa prevalencia y variada presentación en la que puede incluirse un síndrome de hipersecreción de hormonas hipofisarias. La clínica suele ser larvada e inespecífica, no presentan ninguna característica radiológica diferencial y el diagnóstico habitualmente es anatomopatológico. Sin embargo, a pesar de ser tumores benignos, pueden presentar un comportamiento agresivo, con invasión ósea y difícil resección completa, por lo que un diagnóstico de sospecha precoz podría resultar en un tratamiento más eficaz y con un menor número de complicaciones. Presentamos el caso de una paciente con un adenoma hipofisario ectópico silente en el seno esfenoidal con inmunohistoquímica positiva para Hormona de crecimiento (GH) y prolactina que presentaba restos tumorales tras la intervención quirúrgica y ha sido manejada con tratamiento médico conservado, con buenos resultados.


Ectopic pituitary adenomas constitute a diagnostic challenge, given their low prevalence and varied presentation in which a pituitary hormone hypersecretion syndrome may be included. Clinical symptoms are usually latent and nonspecific, they have no differential radiological characteristics and the diagnosis is usually anatomopathological. However, despite being benign tumors, they can exhibit aggressive behavior, with bone invasion and difficult complete resection, so a diagnosis of early suspicion could result in more effective treatment and fewer complications. We present the case of a patient with a silent ectopic pituitary adenoma in the sphenoid sinus with positive immunohistochemistry for Growth Hormone (GH) and prolactin who had tumor remnants after surgery and was managed with conservative medical treatment, with good results.


Subject(s)
Humans , Female , Aged , Pituitary Neoplasms/diagnosis , Pituitary Neoplasms/drug therapy , Sphenoid Sinus , Adenoma/diagnosis , Adenoma/drug therapy , Postoperative Period , Prolactin/metabolism , Growth Hormone/metabolism , Immunohistochemistry , Magnetic Resonance Imaging , Radionuclide Imaging , Tomography, X-Ray Computed , Dopamine Agonists/therapeutic use , Cabergoline/therapeutic use
18.
Endocrinology and Metabolism ; : 177-187, 2020.
Article in English | WPRIM | ID: wpr-816615

ABSTRACT

BACKGROUND: Acromegaly is a rare disease primarily caused by growth hormone (GH)-secreting pituitary adenomas, and its treatment is costly. Moreover, some patients are unresponsive to treatment. Hence, there are increasing efforts to develop new drugs with improved effectiveness for this disease. BIM23B065 is a novel chimeric molecule that acts on both somatostatin and dopamine receptors. This study aimed to investigate the effects of BIM23B065 compared with those of a somatostatin receptor analog and a dopamine agonist.METHODS: The effects of BIM23B065 on the proliferation, GH and insulin-like growth factor-1 (IGF-1) levels, and extracellular signal-regulated kinase (ERK) 1/2 and cyclic AMP response element binding (CREB) phosphorylation of GH3 cells were investigated with MTS assay, enzyme-linked immunosorbent assay, and Western blotting, respectively. The dosage and treatment duration of BIM23B065 were tested in animal models of GH-secreting pituitary adenoma. The effect of BIM23B065 (3 mg/kg/day) on changes in IGF-1 levels before and after treatment was further investigated.RESULTS: In vitro, BIM23B065 treatment decreased GH release in the culture media and downregulated ERK 1/2 and CREB phosphorylation to 22% and 26%, respectively. In vivo, IGF-1 expression decreased to 50 % after 4 weeks of treatment with BIM23B065 using an osmotic pump implant. Moreover, magnetic resonance imaging results showed that the tumor size decreased significantly following treatment with BIM23B065 for 4 weeks.CONCLUSION: The novel chimeric molecule was effective in decreasing IGF-1 and GH levels and may serve as an effective therapeutic agent for acromegaly.


Subject(s)
Humans , Acromegaly , Blotting, Western , Culture Media , Cyclic AMP , Dopamine Agonists , Dopamine , Enzyme-Linked Immunosorbent Assay , Growth Hormone , Growth Hormone-Secreting Pituitary Adenoma , In Vitro Techniques , Insulin-Like Growth Factor I , Magnetic Resonance Imaging , Models, Animal , Phosphorylation , Phosphotransferases , Pituitary Neoplasms , Rare Diseases , Receptors, Dopamine , Receptors, Somatostatin , Response Elements , Somatostatin
20.
J. oral res. (Impresa) ; 8(6): 499-504, dic. 28, 2019. tab
Article in English | LILACS | ID: biblio-1224477

ABSTRACT

Background: Growth hormone plays a significant role in determining craniofacial morphology. Mutations of its receptor gene might be associated with mandibular prognathism (MP). Purpose: The aim of the current study was to evaluate growth hormone receptor (GHR) gene polymorphisms in relation to facial dimensions. Material and Method: The study enrolled 65 participants with class III profile in MP group and 60 orthognathic control participants. Genomic DNA was extracted from a blood sample from the patients and the P561T and C422F polymorphisms of GHR gene were screened by PCR-RFLP method followed by Sanger sequencing of randomly selected samples to validate the genotyping results. Chi square was used to compare distribution of polymorphism in MP and control groups (p<0.05). Results: Heterozygous P561T mutation was found in 10.77% and 8.33% of MP and control groups, respectively (p=0.644) while none of the subjects had the C422F mutation. Sanger sequencing confirmed the genotyping results from the PCR-RFLP method. P561T polymorphism was significantly associated with ramus and lower facial height in MP patients and with ramus height in orthognathic patients (p<0.05). Conclusion: The results indicate that the P561T polymorphism of the GHR gene is associated with the vertical dimension of the mandible in an Iranian population.


Antecedentes: La hormona del crecimiento desempeña un papel importante en la determinación de la morfología craneofacial. Las mutaciones de su gen receptor podrían estar asociadas con el prognatismo mandibular (PM). Propósito: El objetivo del presente estudio fue evaluar dos polimorfismos del gen del receptor de la hormona del crecimiento (RHC) en relación con las dimensiones faciales. Materiales y Métodos: El estudio incluyó a 65 participantes con perfil de clase III en el grupo MP y 60 participantes de control ortognático. El ADN genómico se extrajo de una muestra de sangre de los pacientes y los polimorfismos P561T y C422F del gen RHC se seleccionaron mediante el método PCR-RFLP seguido de la secuenciación por Sanger de muestras seleccionadas al azar para validar los resultados del genotipo por RFLP. El test chi cuadrado se utilizó para comparar la distribución del polimorfismo en el grupo MP y grupo control (p<0.05). Resultados: Se encontró mutación heterocigota P561T en 10.77% y 8.33% de los grupos PM y control, respectivamente (p=0.644) mientras que ninguno de los sujetos tenía la mutación C422F. La secuenciación de Sanger confirmó los resultados de genotipado por el método PCR-RFLP. El polimorfismo P561T se asoció significativamente con la rama y la altura facial más baja en pacientes con PM y con la altura de la rama en pacientes ortognáticos (p<0.05). Conclusión: Los resultados indican que el polimorfismo P561T del gen RHC está asociado con la dimensión vertical de la mandíbula en una población iraní.


Subject(s)
Humans , Male , Female , Cephalometry/methods , Polymorphism, Single Nucleotide/genetics , Mandible/anatomy & histology , Prognathism , Growth Hormone , Chi-Square Distribution , Prevalence , Skull Base/anatomy & histology , Genotype , Iran/ethnology , Malocclusion , Malocclusion, Angle Class III/genetics
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