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1.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 233-242, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1016444

RESUMO

ObjectiveTo explore the effect of precocious puberty on glucose metabolism and lipid metabolism in female rats. MethodsSixty two-day-old female rats were randomly divided into 2 groups. When aged 5 days, the precocious puberty group and normal group were given a single subcutaneous injection of danazol and solvent soybean oil respectively. The vaginal opening of rats was monitored from their 21 days of age. After 12 hours of fasting, all successful modeling rats were randomly executed within 3 days after vaginal opening, when aged 7 and 12 weeks. Then we measured the rats’ body weight and length, determined the concentrations of glucose, insulin, blood lipids, estradiol, leptin and adiponectin with enzyme-linked immunosorbent assay and observed the pathological changes of perirenal fat, uterus and ovary. ResultsFor body weight and length, rats in the precocious puberty group were smaller than those in the normal group within 3 days after vaginal opening, but which did not affect their subsequent growth and development, and there was no significant difference between the two groups at 7 and 12 weeks of age. Within 3 days after vaginal opening, insulin levels had significant difference between the two groups (P = 0.001), the precocious group showed hyperinsulinemia and increased number of perirenal adipocytes. At three execution times, no significant difference was noted in estradiol, leptin and adiponectin levels between the two groups. The same was true in the ratios of ovary or uterus to body weight between the two groups. ConclusionsPrecocious puberty makes earlier onset of pubertal development and allows body maladaptation to the sudden changes of the internal environment. However, the changes due to precocious puberty are temporary and reversible, and they may become normal in adulthood.

2.
Chinese Journal of Contemporary Pediatrics ; (12): 19-24, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1009887

RESUMO

With the changes in various factors such as genetics and the environment, the incidence of childhood precocious puberty has been gradually increasing. Improving height is one of the key issues in the clinical management of precocious puberty. Currently, gonadotropin-releasing hormone analogs (GnRHa) remain the preferred treatment for precocious puberty, but their effect on height improvement is influenced by multiple factors, which may result in lower-than-expected height benefits. Combining recombinant human growth hormone (rhGH) therapy with GnRHa treatment is an alternative strategy to enhance the efficacy of GnRHa, but there is still no clear recommendation regarding the timing of their combination. Considering the current status of precocious puberty treatment, it is crucial to reevaluate the effects of GnRHa monotherapy and combination therapy with rhGH on height improvement. This article discusses strategies such as combination therapy indications to guide clinical medication and help children with precocious puberty achieve optimal height benefits.


Assuntos
Criança , Humanos , Puberdade Precoce/tratamento farmacológico , Hormônio do Crescimento Humano , Terapia Combinada
3.
Entramado ; 19(1)jun. 2023.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1534422

RESUMO

R E S U M E N El objetivo fue elaborar una base de datos de referencia para composición corporal de sujetos pediátricos en la provincia de Mendoza (Argentina). Se obtuvieron datos de I4 variables de composición corporal (densidad y composición mineral ósea; masa magra y blanda; índice de masa corporal y magra, entre otros) de 198 sujetos (96 mujeres) de 4 a 19 años. Los sujetos se clasificaron en ocho grupos bienales; aquellos en etapa de transición puberal fueron clasificados según los estadios de Tanner: Las medidas se obtuvieron mediante densitometría dual de rayos-X en un equipo Lunar Prodigy DF+I6206. Para el análisis estadístico se usó Prism 5.4 en MS Win 7. Los valores de las variables analizadas aumentaron con la edad. Los valores en hombres siguen una tendencia lineal mientras en mujeres es sigmoidea, excepto el índice de masa corporal. Pacientes con igual edad, pero mayor estadio de Tanner, mostraron valores superiores de los componentes corporales. Las mujeres maduraron más tempranamente. Se concluyó que valores de las variables analizadas aumentaron con la edad y en menor medida, con las etapas de Tanner Los cambios son más precoces en mujeres y siguen diferentes cursos temporales en ambos sexos.


The objective was to develop a reference database for body composition of pediatric subjects in the province of Mendoza (Argentina). Data on I4 body composition variables (bone mineral density and composition; lean and soft mass; lean and body mass index, among others) were obtained from I98 subjects (96 women) aged 4 to 19 years. Subjects were classified into eight biennial groups; those in the pubertal transition stage were classified according to the Tanner stages. Measurements were obtained by dual X-ray densitometry on a Lunar Prodigy DF+I6206 instrument. For the statistical analysis, Prism 5.4 in MS Win 7 was used. The values of the variables analyzed increased with age. The values i n men follow a linear trend while in women it is sigmoid, except for the body mass index. Patients with the same age, but higher Tanner stage, showed higher values of body components. Women matured earlier It was concluded that the values of the variables analyzed increased with age and, to a lesser extent, with the Tanner stages. The changes are earlier and follow different time courses in women than in men.


O objetivo foi desenvolver um banco de dados de referência para composição corporal de indivíduos pediátricos na província de Mendoza (Argentina). Dados sobre I4 variáveis de composição corporal (densidade e composição mineral óssea; massa magra e massa mole; índice de massa magra e corporal, entre outras) foram obtidos de I98 indivíduos (96 mulheres) com idades entre 4 e I9 anos. Os sujeitos foram classificados em oito grupos bienais; aqueles no estágio de transição puberal foram classificados de acordo com os estágios de Tanner As medições foram obtidas por densitometria por dupla emissão de raios-X em um instrumento Lunar Prodigy DF+I6206. Para a análise estatística foi utilizado o Prism 5.4 no MS Win 7. Os valores das variáveis analisadas aumentaram com a idade. Os valores nos homens seguem uma tendência linear enquanto nas mulheres é sigmóide, com exceção do índice de massa corporal. Pacientes com a mesma idade, mas estágio de Tanner mais alto, apresentaram valores mais elevados de componentes corporais. As mulheres amadureceram mais cedo. Concluiu-se que os valores das variáveis analisadas aumentaram com a idade e, em menor grau, com os estágios de Tanner As mudanças são mais precoces e seguem cursos de tempo diferentes nas mulheres do que nos homens.

4.
Arch. argent. pediatr ; 121(3): e202202767, jun. 2023. tab, graf
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1435635

RESUMO

Introducción. La pubertad se manifiesta inicialmente por la aparición de los caracteres sexuales secundarios, como consecuencia de cambios hormonales que progresivamente conducen a la madurez sexual completa. En Argentina y el mundo, la pandemia ocasionada por el coronavirus SARS-CoV-2 generó un confinamiento que pudo haber interferido en el inicio y tempo del desarrollo puberal. Objetivo. Describir la percepción de los endocrinólogos pediatras del país sobre las consultas por sospecha de pubertad precoz y/o pubertad de rápida progresión durante la pandemia. Materiales y métodos. Estudio descriptivo, observacional, transversal. Encuesta anónima a endocrinólogos pediatras pertenecientes a la Sociedad Argentina de Pediatría y/o a la Asociación de Endocrinología Pediátrica Argentina, en diciembre de 2021. Resultados. Respondieron la encuesta 83 de 144 endocrinólogos pediátricos (tasa de respuesta 58 %). Todos consideraron que aumentó la consulta por desarrollo precoz o temprano, ya sea en sus variantes telarca precoz (84 %), pubarca precoz (26 %) y/o pubertad precoz (95 %). El 99 % acuerda con que se ha dado en mayor medida en niñas. La totalidad de los encuestados también considera que aumentó el diagnóstico de pubertad precoz central. El 96,4 % considera que ha aumentado el número de pacientes tratados con análogos de GnRH. Conclusión. Nuestros resultados sobre la percepción de endocrinólogos pediatras coinciden con datos publicados en otras regiones sobre el aumento del diagnóstico de pubertad precoz durante la pandemia por COVID-19. Se reafirma la necesidad de generar registros nacionales de pubertad precoz central, difundir las evidencias para su detección y abordaje oportuno.


Introduction. Puberty is manifested initially by the onset of secondary sexual characteristics as a result of hormonal changes that progressively lead to complete sexual maturity. In Argentina and worldwide, the lockdown resulting from the SARS-CoV-2 pandemic may have interfered in the onset and timing of pubertal development. Objective. To describe the perception of pediatric endocrinologists in Argentina regarding consultations for suspected precocious and/or rapidly progressive puberty during the pandemic. Materials and methods. Descriptive, observational, cross-sectional study. Anonymous survey among pediatric endocrinologists members of the Sociedad Argentina de Pediatría and/or the Asociación de Endocrinología Pediátrica Argentina administered in December 2021. Results. Out of 144 pediatric endocrinologists, 83 completed the survey (rate of response: 58%). All of them considered that consultation for precocious or early puberty increased, either in terms of early thelarche (84%), early pubarche (26%), and/or precocious puberty (95%). Ninety-nine percent agreed that this has occurred to a greater extent in girls. All survey respondents also consider that the diagnosis of central precocious puberty has increased. In total, 96.4% of respondents consider that the number of patients treated with GnRH analogs has increased. Conclusion. Our results about the perception of pediatric endocrinologists are consistent with data published in other regions on the increase in the diagnosis of precocious puberty during the COVID-19 pandemic. We underscore the need to develop national registries of central precocious puberty, and to disseminate the evidence for a timely detection and management


Assuntos
Humanos , Criança , Puberdade Precoce/diagnóstico , Puberdade Precoce/epidemiologia , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Estudos Transversais , Pandemias , Endocrinologistas , SARS-CoV-2
5.
Arch. argent. pediatr ; 121(3): e202202840, jun. 2023. tab, graf
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1435638

RESUMO

Introducción. Durante la pandemia por COVID-19, observamos un aumento de consultas por pubertad precoz (PP). Nuestro objetivo fue determinar la frecuencia de PP y su progresión antes y durante la pandemia. Métodos. Estudio retrospectivo, observacional y analítico. Se evaluaron las historias clínicas de los pacientes que consultaron en Endocrinología Infantil entre abril de 2018 y marzo de 2021. Se analizaron las consultas por sospecha de PP durante la pandemia (período 3) y se compararon con 2 años previos (períodos 1 y 2). Se recolectaron datos clínicos y estudios complementarios de la evaluación inicial y su progresión. Resultados. Se analizaron 5151 consultas. Se observó un aumento de consultas por sospecha de PP durante el período 3 (21 % vs.10 % y 11 %, p <0,001). Los pacientes que consultaron por sospecha de PP durante el período 3 aumentaron 2,3 veces (80 vs. 29 y 31, p <0,001). El 95 % fueron niñas; esa población fue analizada. Se incluyeron 132 pacientes que fueron similares en edad, peso, talla, edad ósea y determinaciones hormonales en los 3 períodos. En el período 3, se observó un menor índice de masa corporal, mayor porcentaje de estadio mamario Tanner 3-4 y mayor longitud uterina. Se indicó tratamiento al diagnóstico en el 26 % de los casos. En el resto, se controló su evolución. Durante el seguimiento, se observó una evolución rápidamente progresiva con mayor frecuencia durante el período 3 (47 % vs. 8 % vs. 13 %; p: 0,02). Conclusiones. Evidenciamos un aumento de la PP y una evolución rápidamente progresiva en niñas durante la pandemia.


Introduction. During the COVID-19 pandemic, an increase in consultations for precocious puberty (PP) was observed. Our objective was to determine the frequency of PP and its progression before and during the pandemic. Methods. Retrospective, observational, analytical study. The medical records of patients who consulted with the Department of Pediatric Endocrinology between April 2018 and March 2021 were assessed. Consultations for suspected PP during the pandemic (period 3) were analyzed and compared to the 2 previous years (periods 1 and 2). Clinical data and ancillary tests done in the initial assessment and PP progression information were collected. Results. Data from 5151 consultations were analyzed. An increase in consultations for suspected PP was observed during period 3 (21% versus 10% and 11%, p < 0.001). Patients who consulted for suspected PP during period 3 increased 2.3-fold (80 versus 29 and 31, p < 0.001). In total, 95% were female; this was the population analyzed. We included 132 patients with similar age, weight, height, bone age, and hormonal characteristics in the 3 periods. During period 3, a lower body mass index, a higher percentage of Tanner breast stage 3­4, and a greater uterine length were observed. Treatment was indicated upon diagnosis in 26% of the cases. In the rest, their evolution was monitored. During follow-up, a rapidly progressive course was observed more frequently in period 3 (47% versus 8% versus 13%, p: 0.02). Conclusions. We observed an increase in PP and a rapidly progressive evolution in girls during the pandemic.


Assuntos
Humanos , Feminino , Criança , Puberdade Precoce/diagnóstico , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/epidemiologia , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Estudos Retrospectivos , Pandemias
6.
Arch. argent. pediatr ; 121(3): e202202849, jun. 2023. tab, graf
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1435646

RESUMO

Introducción. Desde inicios de la pandemia por coronavirus 2019 (COVID-19), fue comunicado en varios países un incremento de las consultas de niñas con pubertad precoz central idiopática (PPCI), sin que contáramos con datos argentinos. Este aumento estaría vinculado con los cambios en el estilo de vida y los niveles de estrés resultantes del aislamiento que afectó particularmente a la población infantil. Objetivos. 1) Describir la evolución de la incidencia de PPCI con requerimiento de inhibición del eje hipotálamo-hipófiso-gonadal (EHHG) en niñas entre 2010 y 2021 en una cohorte del Área Metropolitana de Buenos Aires. 2) Comparar las características de las niñas, con dicho diagnóstico realizado durante la pandemia, con las de un grupo control. Métodos. Serie de tiempo interrumpida y estudio de casos y controles. Resultados. La incidencia anual fue estable entre 2010 y 2017. Desde 2017 hubo un ascenso anual que promedió el 59,9 % (IC95 % 18,6-115,5) y pareciera haberse acelerado durante la pandemia. Constatamos asociación entre haber desarrollado PPCI y haber requerido tratamiento inhibitorio entre el 01 de junio de 2020 y el 31 de mayo de 2021, y dos variables: edad de menarca materna (OR 0,46; IC95 % 0,28-0,77) y antecedente familiar de PPCI (OR 4,42; IC95 % 1,16-16,86). Conclusión. Evidenciamos desde 2017 un aumento significativo en la incidencia de PPCI con requerimiento de inhibición del EHHG. El incremento en la exposición a diversos desencadenantes ambientales durante la pandemia por COVID-19 podría haber ejercido mayor influencia en las niñas con alguna predisposición genética.


Introduction. Since the onset of the coronavirus disease 2019 (COVID-19) pandemic, consultations of girls with idiopathic central precocious puberty (ICPP) increased in several countries, but there were no data from Argentina. This increase may be related to changes in lifestyle and stress levels resulting from the lockdown, which particularly affected the child population. Objectives. 1) To describe the progression of the incidence of ICPP requiring inhibition of the hypothalamic- pituitary-gonadal (HPG) axis in girls between 2010 and 2021 in a cohort from the Metropolitan Area of Buenos Aires. 2) To compare the characteristics of girls diagnosed with ICPP during the pandemic with those of a control group. Methods. Interrupted time-series and case-control study. Results. The annual incidence remained stable between 2010 and 2017. Since 2017, it increased to an average of 59.9% (95% CI: 18.6­115.5) and appears to have accelerated during the pandemic. We found an association between ICPP and requiring inhibitory treatment between June 1 st, 2020 andMay 31 st, 2021 and 2 variables: maternal age at menarche (OR: 0.46, 95% CI: 0.28­0.77) and family history of ICPP (OR: 4.42, 95% CI: 1.16­16.86). Conclusion. We evidenced a significant increase in the incidence of ICPP with requirement of HPG axis inhibition since 2017. Increased exposure to various environmental triggers during the COVID-19 pandemic may have had a greater influence in girls with some genetic predisposition.


Assuntos
Humanos , Feminino , Criança , Puberdade Precoce/diagnóstico , Puberdade Precoce/epidemiologia , COVID-19/epidemiologia , Estudos de Casos e Controles , Controle de Doenças Transmissíveis , Incidência , Hormônio Liberador de Gonadotropina , Pandemias
7.
Indian J Physiol Pharmacol ; 2023 Jun; 67(2): 92-99
Artigo | IMSEAR | ID: sea-223982

RESUMO

Objectives: Exposure of aluminium (Al) to mankind is inescapable, and its dyslipidaemic impact is a possible contributing factor to health hazards like cardiovascular diseases. The health effects due to the metalloestrogenic property of the metal need imperative consideration. The current experimental work was undertaken to explore Al-induced dyslipidaemia due to its metalloestrogenic property. Materials and Methods: To fulfil this objective, prepubertal (PP) and young adult (YA) female Wistar rats were intraperitoneally administered to two doses of Al [5 and 10 mg/Kg body weight (BW)] once daily for 2 weeks. After the completion of the acute exposure protocol, plasma and hepatic tissue lipid profiles were estimated. Analysis of variance was carried out by the Kruskal–Wallis test and the differences between the groups were analysed by Mann–Whitney U post hoc test Results: Increased triglyceride, total cholesterol, low-density lipoprotein (LDL) cholesterol and very-LDL cholesterol in plasma were found in YAs treated with both doses of Al in a dose-dependent manner. Similar changes were not present in PP female rats. Decreased levels of lipid levels were observed in the case of hepatic lipid profile. Conclusion: The study ushers light towards the dyslipidaemic alterations in experimental female rats after acute Al exposure. Impacts of Al on the growth and organosomatic index during the vital developmental days were significantly decided by the pubertal status of the female rats. The results of this study indicate the impact of puberty on the Al-induced modifications in lipid profile parameters and cardiovascular risk factors.

8.
Cuestiones infanc ; 24(1): 69-79, May 24, 2023.
Artigo em Espanhol | LILACS, UNISALUD, BINACIS | ID: biblio-1438561

RESUMO

El presente artículo aborda las consecuencias psíquicas en los adolescentes, del aislamiento social obligatorio durante la pandemia de Covid19. Un acontecimiento social que dio lugar a procesos creativos y patológicos. La virtualidad como herramienta tecnológica ha transformado las formas del lazo social y de la subjetividad, pero también ha permitido sostener una continuidad en los dispositivos de salud y de educación. En el caso de los tratamientos se modificaron los encuadres dando lugar a nuevas formas de atención, con sus particularidades en el trabajo clínico con adolescentes AU


This article is about the psychological consequences in Atdolescents of mandatory social isolation during the Covid19 pandemic. A social event that gave rise to creative and pathological processes. Virtuality as a technological tool has transformed the forms of social bond and subjectivity, but it has also made it possible to sustain continuity in health and education devices. In the case of treatments, the frames were modified, giving rise to new forms of care, with their particularities in clinical work with adolescents AU


Cet article aborde les conséquences psychologiques chez les adolescents de l'isolement social obligatoire pendant la pandémie de Covid19. Un événement social qui a donné lieu à des processus créatifs et pathologiques. Levirtualité comme outil technologique a transformé les formes de lien social et de subjectivité, mais elle a aussi permis de pérenniser les dispositifs de santé et d'éducation. Dans le cas des traitements, les cadres ont été modifiés, donnant lieu à de nouvelles formes de soins, avec leurs particularités dans le travail clinique avec les adolescents AU


Este artigo aborda as consequências psicológicas em adolescentes do isolamento social obrigatório durante a pandemia de Covid19. Um acontecimento social que deu origem a processos criativos e patológicos. A virtualidade como ferramenta tecnológica transformou as formas de vínculo social e subjetividade, mastambém possibilitou sustentar a continuidade dos dispositivos de saúde e educação. No caso dos tratamentos, os quadros foram modificados, dando origem a novas formas de cuidado, com suas particularidades no trabalho clínico com adolescentes AU


Assuntos
Humanos , Masculino , Feminino , Adolescente , Isolamento Social/psicologia , Psicologia do Adolescente , COVID-19/epidemiologia , Tecnologia , Puberdade , Realidade Virtual , Angústia Psicológica
9.
Arch. argent. pediatr ; 121(2): e202202717, abr. 2023. tab
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1418452

RESUMO

Introducción. La escala de Tanner y el orquidómetro de Prader son los instrumentos más utilizados para evaluar el desarrollo puberal en los niños. La evaluación de la pubertad en la clínica solo es útil si se dispone de datos de referencia recientes y confiables de la misma población para comparar. Objetivo: evaluar la correlación entre los estadios de Tanner y el volumen testicular (VT) en adolescentes argentinos. Población y métodos. Diseño descriptivo transversal, realizado con varones saludables de 9 a 20 años de edad. Se excluyeron varones con patología urogenital y enfermedades que afectan el crecimiento testicular. La correlación entre estadios de Tanner y VT fue evaluada con pruebas no paramétricas. Resultados. Se evaluaron 367 varones con una edad de 13,8 ± 2,5 años. El VT aumentó en correlación a los estadios de Tanner (Spearman 0,943; p <0,001) con volúmenes significativamente diferentes, salvo en los estadios iniciales genital 1-2 (p 0,343) y vello púbico 1-2 (p 0,447). El 16 % (intervalo de confianza del 95 % 9,6-24,4 %; n = 17/106) de los varones peripuberales fue clasificado erróneamente basado en los estadios de Tanner. Conclusiones. Durante la pubertad masculina, el VT aumentó en correlación con los estadios de Tanner, pero no presentó diferencias significativas entre los estadios 1 y 2 de Tanner. Es fundamental el uso del orquidómetro de Prader para detectar el inicio puberal en varones.


Introduction. The Tanner scale and the Prader orchidometer are the instruments most commonly used to assess pubertal development in children. The assessment of puberty in the clinic is only useful if recent and reliable references in the same population are available for comparison. Objective: to assess the correlation between Tanner stages and testicular volume (TV) in Argentine adolescents. Population and methods. Study with a descriptive, cross-sectional design conducted in healthy boys aged 9­20 years. Male children and adolescents with urogenital conditions and disorders affecting testicular growth were excluded. The correlation between Tanner stages and TV was assessed using non-parametric tests. Results. A total of 367 male adolescents with an average age of 13.8 ± 2.5 years were assessed. TV increased in correlation to Tanner stages (Spearman: 0.943, p < 0.001) with significantly different volumes, except in the early genital 1-2 stages (p 0.343) and pubic hair 1-2 stages (p 0.447). Among peripubertal boys, 16% (95% confidence interval: 9.6­24.4%, n = 17/106) were wrongly classified based on Tanner stages. Conclusions. During male puberty, TV increased in correlation to Tanner stages, but no significant differences were observed between Tanner stages 1 and 2. Using the Prader orchidometer is critical to establish the onset of puberty in boys


Assuntos
Humanos , Masculino , Criança , Adolescente , Adulto Jovem , Maturidade Sexual , Puberdade , Estudos Transversais
10.
J Indian Med Assoc ; 2023 Mar; 121(3): 30-34
Artigo | IMSEAR | ID: sea-216702

RESUMO

Background : Assessment of Sexual Maturity Rating and Testicular Volume are indispensable in the routine assessment of puberty in boys. There is paucity of data in Indian population for Testicular Volume particularly in early adolescence. Aims : The aims of the study were to collect data for testicular volume,correlate testicular volume with Sexual Maturity Rating (SMR) and the clinical onset of puberty; and to identify Testicular abnormalities in boys aged 5 to 17 years in an Urban setting in Gujarat, India. Materials and Methods : A prospective observational study was undertaken in boys aged5 to 17years of age from Gujarat from April, 2019 to August, 2019. Mean Testicular Volume was measured with a Prader抯 orchidometer. Parameters like Age, Weight and Height were also measured and Body Mass Index (BMI) was calculated. Pubertal stage was categorized using Tanner staging. Data was statistically analyzed using Microsoft Excel and SPSS software. Results : 977 boys were included in the study. Mean age at SMR stage 2 was 11.22 years. SMR stage 2 was earliest seen at 6 years and latest at 15 years of age. 15% of boys in pre-adolescence, 60% in early adolescence and 94% in middle adolescence showed changes of Puberty. Precocious puberty was detected in 33 boys (3.38%). Delayed Puberty was detected in 4 boys (0.4%) and Undescended Testes in 4 boys (0.4%). Testicular Volume showed positive correlation with Weight, Height and BMI.

11.
Chinese Journal of Neurology ; (12): 1044-1050, 2023.
Artigo em Chinês | WPRIM | ID: wpr-994930

RESUMO

Objective:To investigate the clinical phenotype and genotypic characteristics of Legius syndrome.Methods:The clinical data of a child with precocious puberty and scattered café-au-lait macules admitted to Department of Neurology of the Children′s Hospital Affiliated to Zhengzhou University in July 2021 were retrospectively analyzed. Trio-whole exome sequencing (trio-WES) was used for genetic analysis to confirm the molecular diagnosis of the family. The relevant literature was reviewed to summarize the clinical characteristics of the disease.Results:The proband was a 10-year and 9-month-old girl, presenting with more than 5 café-au-lait macules with diameter>5 mm on the face and trunk, freckles in the axillary, without Lisch tubercles of iris and tumor signs of neurofibromatosis type 1, diagnosed as central precocious puberty at the age of 8. trio-WES results of the family revealed a spontaneous heterozygous nonsense mutation c.751(exon7) C>T in SPRED1 gene, causing a nonsense mutation in the amino acid sequence p.Arg251Ter (p. Ter251 *). Literature review showed a total of 88 pathogenic mutations were reported in SPRED1 gene, including frameshift mutations (41/88), nonsense mutations (31/88), splice mutations (7/88), missense mutations (6/88), and others (3/88), and no mutational hotspots were found. Clinical phenotype was as follows:>5 café-au-lait macules accounted for 92.8% (168/181), armpit and inguinal freckles 43.5% (73/168), macrocephaly 21.4% (31/145), learning disability 18.0% (30/166), psychomotor retardation 13.8% (22/159), lipoma (adult) 13.7% (21/153), Noonan facial sign 12.1% (21/173), and tumor phenotype of neurofibromatosis type 1 was not reported. Conclusions:The central precocious puberty phenotype of Legius syndrome was not reported in China. The clinical phenotype of Legius syndrome was mild, with a large variation, but without neurofibromatosis type 1 tumor phenotype. Genetic testing can be beneficial for early diagnosis of Legius syndrome.

12.
Chinese Journal of Applied Clinical Pediatrics ; (24): 557-560, 2023.
Artigo em Chinês | WPRIM | ID: wpr-990079

RESUMO

Earlier onset of puberty has become a worldwide trend.A large number of epidemiologic and animal experiment evidences have indicated that environmental changes in the early life may influence development plasticity and cause structural and functional changes, which are correlated with adult chronic diseases.The impact of fluctuations in environmental factors on the reproductive phenotype of offspring has been well concerned in recent years.This review summarizes the influences of nutritional state, endocrine disrupting chemicals, hormonal perturbation and stressful events during the prenatal and early childhood on the puberty initiation, especially neuroendocrine changes in puberty, thus providing a new idea for the prevention and control of pubertal disorders.

13.
International Journal of Pediatrics ; (6): 468-472, 2023.
Artigo em Chinês | WPRIM | ID: wpr-989115

RESUMO

Hematopoietic stem cell transplantation(HSCT), as a technique to reconstruct normal hematopoietic and immune function, has become a treatment option for a variety of malignant and non-malignant diseases in children.With the development of medical technology, the long-term survival rate of children after HSCT is significantly improved.At the same time, there is more concern and awareness about the late effects of HSCT.As one of the endocrine complications with the highest incidence in children after HSCT, gonadal damage leads to sex hormone secretion disorder, adolescent dysplasia, and infertility in adulthood, which has a serious influence on children′s mental health and quality of life.Therefore, it is helpful to reduce the psychological and economic burden on children and their families by understanding its potential mechanism, evaluating risk factors, screening early warning and recovery markers of gonadal function as well as taking corresponding preventive and protective measures.

14.
Acta Anatomica Sinica ; (6): 644-651, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1015164

RESUMO

Objective To explore the effect of melatonin ( MLT) on the initiation of puberty in female mice and on the expression level of phosphatidylinositol-3-kinases ( PI3K)/protein kinase B ( Akt)/mammalian target of rapamycin (mTOR) signaling pathway in the frypothalamus. Methods Seventy-eight 20-day-old female KM mice were randomly divided into melatonin (MLT) group and normal saline (NS) group, with 39 mice in each group. Starting at 22 days of age, the MLT group was given a subcutaneous injection of 1 mg/kg melatonin and the NS group was given an equal volume of saline. Thirty-two days of age were selected as the sampling point before puberty initiation and 13 mice were executed in each of the two groups, while 37 and 42 days of age were selected as the sampling point after puberty initiation and 13 mice were executed in each of the two groups. Observation of vaginal opening time in mice, weighing of ovaries and uterus to calculate organ indices. HE staining to observe the number of ovarian corpora lutea. The levels of serum luteinizing hormone (LH)were determined by ELISA. The mRNA and protein expression levels of PI3K/Akt/mTOR pathway in frypothalamus were detected by Real-time PCR and Western blotting. Results Compared with the normal saline group, mice in the melatonin group had significantly delayed vaginal opening time ( P < 0. 05 ) , decreased significantly ovarian and uterine volume and index (P<0. 05) , decreased significantly serum LH levels (P<0. 05) , and decreased significantly mRNA and protein expression levels of the frypothalamic PI3K/Akt/mTOR pathway (P<0. 05). Conclusion Melatonin delays puberty initiation in mice by a mechanism that ma)' be related to inhibition of the hypothalamic PI3K/Akt/mTOR signalling pathway.

15.
Chinese Journal of School Health ; (12): 330-334, 2023.
Artigo em Chinês | WPRIM | ID: wpr-965748

RESUMO

Abstract@#By reviewing the advocacy framework and implementation path of global adolescent health promotion, summarizing the main health problems of adolescents worldwide and current status of adolescent health care services in China, an ecological model of adolescent health care was concluded according to the demands of adolescents towards health care services. A comprehensive intervention strategy, ie. multi sector cooperation, community participation and integration of hospital, school, community and family, etc, has been put forward to promote the health and sustainable development of adolescents.

16.
Chinese Journal of Contemporary Pediatrics ; (12): 159-165, 2023.
Artigo em Chinês | WPRIM | ID: wpr-971054

RESUMO

OBJECTIVES@#To study the value of basal luteinizing hormone (LH) level combined with uterine volume measurement in the early diagnosis of central precocious puberty (CPP) in girls with different Tanner stages.@*METHODS@#A retrospective analysis was performed on the girls who presented with breast development before the age of 8 years and attended the Third Affiliated Hospital of Zhengzhou University from January 2017 to September 2022. According to the results of gonadotropin-releasing hormone (GnRH) agonist test, the girls with peak LH ≥5.0 IU/L and peak LH/follicle stimulating hormone ≥0.6 were enrolled as the positive group, and the other girls were enrolled as the negative group. The two groups were compared in terms of the basal LH level and uterine volume. The receiver operating characteristic (ROC) curve was used to analyze their value in the early diagnosis of CPP.@*RESULTS@#For the girls with Tanner B2 and B3 stages, the positive group had significantly higher basal LH level and uterine volume than the negative group (P<0.05). The basal LH level had an optimal cut-off value of 0.325 IU/L and 0.505 IU/L respectively in the diagnosis of Tanner stage B2/B3 CPP, while uterine volume had an optimal cut-off value of 1.639 mL and 2.158 mL respectively. Basal LH level combined with uterine volume measurement had a significantly larger area under the ROC curve than uterine volume measurement alone (P<0.001), but with no significant difference compared with that of basal LH level measurement alone (P>0.05).@*CONCLUSIONS@#Basal LH level combined with uterine volume measurement is valuable in the early diagnosis of CPP in girls with different Tanner stages, which provides a basis and guiding significance for clinical diagnosis of CPP.


Assuntos
Criança , Feminino , Humanos , Diagnóstico Precoce , Hormônio Luteinizante/química , Puberdade Precoce/diagnóstico , Estudos Retrospectivos , Útero/patologia
17.
Asian Journal of Andrology ; (6): 230-239, 2023.
Artigo em Inglês | WPRIM | ID: wpr-970992

RESUMO

Puberty is a pivotal biological process that completes sexual maturation to achieve full reproductive capability. It is a major transformational period of life, whose timing is strongly affected by genetic makeup of the individual, along with various internal and external factors. Although the exact mechanism for initiation of the cascade of molecular events that culminate in puberty is not yet known, the process of pubertal onset involves interaction of numerous complex signaling pathways of hypothalamo-pituitary-testicular (HPT) axis. We developed a classification of the mechanisms involved in male puberty that allowed placing many genes into physiological context. These include (i) hypothalamic development during embryogenesis, (ii) synaptogenesis where gonadotropin releasing hormone (GnRH) neurons form neuronal connections with suprahypothalamic neurons, (iii) maintenance of neuron homeostasis, (iv) regulation of synthesis and secretion of GnRH, (v) appropriate receptors/proteins on neurons governing GnRH production and release, (vi) signaling molecules activated by the receptors, (vii) the synthesis and release of GnRH, (viii) the production and release of gonadotropins, (ix) testicular development, (x) synthesis and release of steroid hormones from testes, and (xi)the action of steroid hormones in downstream effector tissues. Defects in components of this system during embryonic development, childhood/adolescence, or adulthood may disrupt/nullify puberty, leading to long-term male infertility and/or hypogonadism. This review provides a list of 598 genes involved in the development of HPT axis and classified according to this schema. Furthermore, this review identifies a subset of 75 genes for which genetic mutations are reported to delay or disrupt male puberty.


Assuntos
Adolescente , Masculino , Humanos , Adulto , Criança , Hormônio Liberador de Gonadotropina , Gonadotropinas/metabolismo , Hipogonadismo , Testículo/metabolismo , Puberdade/fisiologia , Maturidade Sexual
18.
Clinics ; 78: 100244, 2023. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1506016

RESUMO

Abstract Introduction Prior studies have found inconsistent results regarding the relationship between vitamin D status and Idiopathic Central Precocious Puberty (ICPP). Objective To assess the role of serum 25-hydroxyvitamin D (25 [OH]D) levels in ICPP development. Method The authors retrospectively collected data from 221 girls with ICPP and 144 healthy girls between January 2017 and December 2019. The participants' serum 25(OH)D levels were measured using an automatic chemiluminescence method, and the association between serum 25(OH)D levels and the risk of ICPP was assessed using multivariate logistic regression analysis. Odds Ratios (OR) with 95% Confidence Intervals (95% CI) were calculated as effect estimates. Results Serum 25(OH)D levels in the ICPP group were significantly lower than those in healthy controls (p < 0.001). Multivariate analysis indicated that girls with insufficient vitamin D levels (OR = 0.201; 95% CI 0.094-0.428; p < 0.001) and sufficient vitamin D levels (OR = 0.141; 95% CI 0.053-0.375; p < 0.001) both had a lower risk of ICPP than girls with vitamin D deficiency. Moreover, the authors found that the height (p = 0.014), weight (p = 0.014), breast stage (p = 0.010), mother's height (p < 0.001), and luteinizing hormone/follicle-stimulating hormone ratio (p = 0.010) in girls with ICPP could be associated with levels of vitamin D. Conclusion This study found that a low serum 25(OH)D level is an independent risk factor for ICPP, and several characteristics of girls with ICPP could be affected by their vitamin D status.

19.
Dental press j. orthod. (Impr.) ; 28(4): e2322277, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS, BBO | ID: biblio-1506080

RESUMO

ABSTRACT Objective: The aim of this in-vivo study was to assess the salivary dehydroepiandrosterone sulphate (DHEAS) and cortisol levels, and their correlation to the Cervical Vertebrae Maturation method (CVM) in males and females at pre-pubertal, pubertal and post-pubertal growth stages. Methods: 48 patients (24 males, 24 females) who were to undergo routine orthodontic treatment were screened according to the inclusion and exclusion criteria. Then subjects were grouped according to CVM stages, using lateral cephalogram, in pre-pubertal, pubertal and post-pubertal groups. Unstimulated saliva from the selected subjects was collected. DHEAS and cortisol levels in the salivary samples were estimated by Enzyme-Linked Immunosorbent assay (ELISA). Then they were compared to Cervical Vertebrae Maturation Method stages. One-way ANOVA test followed by Tukey's post-hoc test was used to compare the salivary DHEAS and cortisol levels between different CVM stages in males and females. Independent Student t-test was used to compare the mean salivary DHEAS and cortisol levels between different males and females in each CVM stage. Result: There was a progressive increase in salivary DHEAS and cortisol concentration as skeletal maturation progressed from CVM stages 1 and 2, CVM stages 3 and 4, reaching the highest value at CVM stages 5 and 6. Their levels were higher in males than females. Conclusion: The salivary DHEAS and cortisol levels can be useful as a potential indicator of skeletal maturation, to aid in the assessment of pubertal status.


RESUMO Objetivo: O objetivo deste estudo in vivo foi avaliar os níveis salivares de sulfato de dehidroepiandrosterona (DHEAS) e de cortisol, e sua correlação com o método de maturação das vértebras cervicais (CVM) em homens e mulheres nas fases de crescimento pré-puberal, puberal e pós-puberal. Métodos: 48 pacientes (24 homens, 24 mulheres) que se submeteriam a tratamento ortodôntico de rotina foram selecionados de acordo com os critérios de inclusão e exclusão. Em seguida, usando telerradiografia lateral, os indivíduos foram agrupados de acordo com os estágios CVM, em grupos pré-puberal, puberal e pós-puberal. Foi feita coleta de saliva não estimulada nos indivíduos selecionados. Os níveis de DHEAS e cortisol nas amostras salivares foram avaliados pelo teste ELISA (Enzyme-Linked Immunosorbent assay). Em seguida, foram comparados aos estágios do método CVM. O teste ANOVA de uma via seguido pelo teste post-hoc de Tukey foi usado para comparar o DHEAS salivar e os níveis de cortisol entre os diferentes estágios de CVM em homens e mulheres. O teste t de Student independente foi usado para comparar a média de DHEAS salivar e os níveis de cortisol entre diferentes homens e mulheres em cada estágio de CVM. Resultados: Houve um aumento progressivo no DHEAS salivar e na concentração de cortisol à medida que a maturação esquelética progrediu dos estágios CVM 1 e 2, para os estágios CVM 3 e 4, atingindo o valor mais alto nos estágios CVM 5 e 6. Seus níveis foram maiores nos homens do que nas mulheres. Conclusões: Os níveis salivares de DHEAS e cortisol podem ser úteis como um potencial indicador de maturação esquelética, para auxiliar na avaliação do estado puberal.

20.
Rev. med. Urug ; 39(1): e705, 2023.
Artigo em Espanhol | LILACS, BNUY | ID: biblio-1431909

RESUMO

Los prolactinomas son los tumores funcionantes de hipófisis más frecuentes. Se clasifican según su tamaño en microprolactinomas (menores a 1 cm) y macroprolactinomas (mayor o igual a 1 cm). Estos últimos tienen mayor frecuencia en hombres y en general se diagnostican más tardíamente, cuando aparecen síntomas compresivos. La hiperprolactinemia interfiere con la secreción pulsátil de la hormona liberadora de gonadotropinas (GnRH), lo que genera la inhibición de secreción de hormona luteinizante (LH) y de hormona foliculoestimulante (FSH), y en consecuencia produce hipogonadismo hipogonadotrófico. El presente artículo reporta un caso clínico de un paciente de 26 años, de sexo masculino, en el que se realiza el diagnóstico de hipogonadismo hipogonadotrófico secundario a un macroprolactinoma, en el contexto de una pubertad detenida.


Prolactinomas are the most common functioning pituitary tumors. According to size, they are classified into microprolactinomas (smaller than 1 cm) and macroprolactinomas (larger than or equal to 1 cm). The latter are more frequent among men and in general of late diagnosis upon compressive symptoms. Hyperprolactinemia interferes with the pulsatile secretion of the gonadotrophin releasing hormone (GnRH)) what results in inhibition of the secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), what consequently produces hypogonadotrophic hypogonadism. The study reports the clinical case of a 26-year-old male who was diagnosed with hypogonadotrophic hypogonadism secondary to macroprolactinoma, within the context of detained puberty.


Os prolactinomas são os tumores hipofisários funcionantes mais comuns. São classificados de acordo com seu tamanho em microprolactinomas (menos de 1 cm) e macroprolactinomas (maior ou igual a 1 cm). Estas últimas são mais frequentes em homens e geralmente são diagnosticadas mais tarde, quando aparecem sintomas compressivos. A hiperprolactinemia interfere na secreção pulsátil do hormônio liberador de gonadotropina (GnRH), levando à inibição da secreção do hormônio luteinizante (LH) e do hormônio folículo-estimulante (FSH) e, consequentemente, hipogonadismo hipogonadotrófico. Este artigo relata o caso clínico de um paciente do sexo masculino de 26 anos, no qual é feito o diagnóstico de hipogonadismo hipogonadotrófico secundário a um macroprolactinoma, no contexto de puberdade interrompida.


Assuntos
Puberdade Tardia , Prolactinoma , Hipogonadismo
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