Base de dados : LILACS
Pesquisa : C19.391.693 [Categoria DeCS]
Referências encontradas : 231 [refinar]
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Id: biblio-1160779
Autor: Escobar, María Eugenia; Gryngarten, Mirta; Boulgourdjian, Elisabeth; Ropelato, Gabriela; Bergadá, César.
Título: Tema 2: endocrinología infantil. Acción terapéutica de los análogos del factor liberador de gonadotrofinas (LH-RH) en la pubertad precoz / Therapeutic action of analogues of gonadotropins releasing factor (LH-RH) in precocious puberty
Fonte: Bol. Acad. Nac. Med. B.Aires;(supl):317-21, jul. 1992.
Idioma: es.
Conferência: Apresentado em: Reunión Conjunta, 18. Sesión Científica, 2, Montevideo, 10-11 oct. 1996.
Descritores: Gonadotropinas
Hormônio Liberador de Gonadotropina/administração & dosagem
Puberdade Precoce/fisiopatologia
Puberdade Precoce/terapia
-Leuprolida/uso terapêutico
Pamoato de Triptorrelina/uso terapêutico
Limites: Masculino
Feminino
Responsável: AR1.1 - Biblioteca Rafael Herrera Vegas


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Id: biblio-1150773
Autor: Mericq G, Verónica; Kraus F, Jonathan.
Título: Telarquia precoz en la niñez: causas y estudio / Premature thelarche in childhood: causes and study
Fonte: Rev. Méd. Clín. Condes;26(1):94-98, ene-feb. 2015. tab, ilus.
Idioma: es.
Resumo: Se define Telarquía Precoz como la aparición del botón mamario antes de los ocho años en ausencia de otros signos de pubertad. En los primeros años de vida puede ser secundaria al fenómeno de la minipubertad, mientras que en la etapa escolar podría ocurrir debido a la interacción entre disruptores endocrinológicos y la obesidad. Una parte importante se mantiene estacionaria o revierte, mientras que un pequeño porcentaje puede evolucionar hacia la pubertad precoz. Se debe realizar una anamnesis y examen físico adecuado buscando otros signos puberales, una buena curva de crecimiento y puede complementarse con imágenes y con un seguimiento para intentar determinar aquellas pacientes que evolucionarán hacia la pubertad precoz.

Premature thelarche is defined as the breast bud appearance before eight years, without other signs of puberty development. During the first years of life it can be secondary to the minipuberty phenomenon, while during school period it's usually secondary to the interaction between endocrine disruptors and obesity. Although most of cases remain stable or regresses, a small percentage can evolve to precocious puberty. An appropriate clinical history and physical exam looking for other signs of precocious puberty must be held, complemented with the correspondent follow up and images studies, in order to diagnose patients that will evolve to precocious puberty.
Descritores: Puberdade Precoce/diagnóstico
Puberdade Precoce/etiologia
Puberdade Precoce/epidemiologia
-Exame Físico
Algoritmos
Disruptores Endócrinos/efeitos adversos
Displasia Fibrosa Poliostótica
Anamnese
Obesidade/complicações
Limites: Humanos
Feminino
Pré-Escolar
Criança
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-1147952
Autor: Peper, Francisco.
Título: Pubertad precoz y temprana: evaluación y tratamiento / Early puberty: evaluation and treatment
Fonte: Evid. actual. práct. ambul;19(4):122-123, 2016. ilus.
Idioma: es.
Resumo: El autor de este artículo repasa las características clínicas de la pubertad precoz y la pubertad temprana, las pruebas diagnósticas indicadas en la evaluación de los pacientes que la presentan y las recomendaciones actuales de tratamiento. (AU)

The author of this article reviews the clinical features of early puberty, the diagnostic tests for the patients ́ evaluation andthe current treatment recommendations. (AU)
Descritores: Puberdade Precoce/terapia
Hormônio Liberador de Gonadotropina/agonistas
-Puberdade Precoce/classificação
Puberdade Precoce/patologia
Puberdade Precoce/sangue
Puberdade Precoce/diagnóstico por imagem
Hormônio Liberador de Gonadotropina/uso terapêutico
Caracteres Sexuais
Limites: Humanos
Masculino
Feminino
Criança
Tipo de Publ: Revisão
Responsável: AR2.1 - Biblioteca Central


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Texto completo SciELO Chile
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Id: biblio-1058190
Autor: Hidalgo Santos, Antonio David; de Mingo Alemany, María del Carmen; Moreno Macián, Francisca; León Cariñena, Sara; Collado Ballesteros, Erika; Cañete Nieto, Adela.
Título: Efectos endocrinológicos tardíos del tratamiento oncológico en supervivientes de meduloblastoma / Endocrinological late effects of oncologic treatment on survivors of medulloblastoma
Fonte: Rev. chil. pediatr;90(6):598-605, dic. 2019. tab.
Idioma: es.
Resumo: INTRODUCCIÓN: La radioterapia, quimioterapia y la cirugía empleada en el tratamiento de los tumores cerebrales tienen efectos en el eje hipotálamo-hipofisario y pueden resultar en disfunción endocrina hasta en el 96% de los casos. PACIENTES Y MÉTODO: Estudio retrospectivo y descriptivo en pacientes diagnos ticados de meduloblastoma sometidos a tratamiento con quimio y radioterapia en los últimos 20 años en un hospital terciario. Se analizan variables edad, sexo, peso, talla, índice de masa corporal (IMC) al final del seguimiento, estadio de maduración sexual, niveles séricos de TSH y T4 libre, ACTH/cortisol e IGF-1, FSH, LH, estradiol, testosterona, perfil lipídico (colesterol total) y prueba de función dinámica de hormona de crecimiento. RESULTADOS: Muestra total de 23 pacientes. El déficit de hormona de crecimiento es la secuela más frecuente (82 %) seguido de disfunción ti roidea (44,8%) y disfunción puberal (24,1%). Solo se diagnosticó un caso de diabetes insípida y 2 casos de déficit de corticotrofina. CONCLUSIONES: El seguimiento a largo plazo de los supervivientes de meduloblastoma tratados con quimio y radioterapia revela una prevalencia muy alta de disfun ción endocrina, particularmente de deficiencia de hormona del crecimiento y de hipotiroidismo. Creemos oportuna la monitorización y el seguimiento a largo plazo de estos pacientes con el fin de garantizar un manejo terapéutico adecuado de aquellas disfunciones tratables.

INTRODUCTION: Radiation therapy, chemotherapy, and surgery used to treat brain tumors have effects on the hy pothalamic-pituitary-adrenal axis and can result in endocrine dysfunction in up to 96% of cases. PATIENTS Y METHOD: Retrospective and descriptive study in patients diagnosed with medulloblasto ma who underwent treatment with chemo and radiotherapy in the last 20 years in a tertiary hospital. The variables analyzed were age, sex, weight, height, body mass index (BMI) at the end of follow-up, sexual maturity stage, serum levels of TSH and free T4, ACTH/cortisol and IGF-1, FSH, LH, estradiol, testosterone, lipid profile (total cholesterol), and growth hormone dynamic function test. RESULTS: Total sample of 23 patients. Growth hormone deficiency is the most frequent sequelae (82%) fo llowed by thyroid dysfunction (44.8%), and disorders of puberty (24.1%). Only one case of diabetes insipidus and two cases of corticotropin deficiency were diagnosed. CONCLUSIONS: Long-term follow- up of medulloblastoma survivors treated with chemo and radiotherapy reveals a very high prevalence of endocrine dysfunction, especially growth hormone deficiency and hypothyroidism. We believe that monitoring and long-term follow-up of these patients is necessary in order to ensure adequate therapeutic management of those treatable dysfunctions.
Descritores: Neoplasias Cerebelares/terapia
Quimiorradioterapia/efeitos adversos
Meduloblastoma/terapia
-Puberdade Precoce/etiologia
Doenças da Glândula Tireoide/etiologia
Neoplasias Cerebelares/sangue
Estudos Retrospectivos
Hormônio Adrenocorticotrópico/deficiência
Hormônio do Crescimento Humano/deficiência
Diabetes Insípido/etiologia
Doenças do Sistema Endócrino/etiologia
Sobrepeso/etiologia
Sobreviventes de Câncer
Hipogonadismo/etiologia
Meduloblastoma/sangue
Limites: Humanos
Masculino
Feminino
Pré-Escolar
Criança
Responsável: CL1.1 - Biblioteca Central


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Texto completo SciELO Cuba
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Texto completo
Id: biblio-1126436
Autor: García Sáez, Julieta; Rodríguez Sobrino, Anyelín; Esquivel Sosa, Leidelen; Arcas Ermeso, Gretsy; Gari Llanes, Merlin; Rodríguez Versón, Hilda Elena; López García, Carmen Margarita.
Título: Síndrome de Van Wyk-Grumbach / Van Wyk-Grumbach syndrome
Fonte: Rev. cuba. endocrinol;30(2):e197, mayo.-ago. 2019. graf.
Idioma: es.
Resumo: RESUMEN El síndrome de Van Wyk-Grumbach se caracteriza por hipotiroidismo primario de larga duración asociado a pubertad precoz. Se presenta una paciente de 7 años, mestiza, que acude por sangrado vaginal, acompañado de hiperpigmentación de las areolas sin galactorrea, abdomen globuloso, mixedema, hirsutismo, baja talla, astenia y retraso escolar. La química sanguínea mostró anemia, hipercolesterolemia y hipertransaminasemia; los estudios de imágenes constataron derrame pericárdico, retraso marcado de la edad ósea, incremento de las dimensiones de la silla turca y gran quiste del ovario con aparente criterio quirúrgico. Los estudios hormonales confirmaron la sospecha de hipotiroidismo primario asociado a hiperprolactinemia. El tratamiento sustitutivo con levotiroxina sódica revirtió los signos y síntomas de pubertad precoz, lo que evitó la cirugía del quiste de ovario; la recuperación en el ambiente escolar y social fue indiscutible. Reconocer esta entidad evita tratamientos absolutamente contraindicados, como la extirpación de los quistes o el tratamiento quirúrgico de la hiperplasia hipofisaria(AU)

ABSTRACT Van Wyk-Grumbach syndrome is characterized by long-lasting primary hypothyroidism associated with precocious puberty. A case of a 7-year-old female mestizo patient is reported. She came to consultation for vaginal bleeding, accompanied by hyperpigmentation of the areolas without galactorrhea, globular abdomen, myxedema, hirsutism, short stature, asthenia and school delay. Blood chemistry showed anemia, hypercholesterolemia and hypertransaminasemia. Imaging studies showed pericardial effusion, marked delay in bone age, increased dimensions of Turkish chair and large ovarian cyst with apparent surgical criteria. Hormonal studies confirmed the suspicion of primary hypothyroidism associated with hyperprolactinemia. Substitute treatment with levothyroxine sodium reversed the signs and symptoms of precocious puberty, which prevented ovarian cyst surgery; the recovery in the school and social environment was certain. Recognizing this entity avoids absolutely contraindicated treatments, such as the removal of cysts or the surgical treatment of pituitary hyperplasia(AU)
Descritores: Puberdade Precoce
Tiroxina/uso terapêutico
Hipercolesterolemia/etiologia
Hipotireoidismo/diagnóstico
Anemia/etiologia
Limites: Humanos
Feminino
Criança
Tipo de Publ: Relatos de Casos
Responsável: CU1.1 - Biblioteca Médica Nacional


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Id: biblio-968555
Autor: Bancalari D, Rodrigo; Pfingsthorn M, Martín; Díaz S, Carlos; Zamorano R, Juanita; Cerda F, Verónica; Fernández V, Manuel; Garbin A, Flavia; Muñoz C, Patricia; Christoph G, Carmen; Valenzuela B, María Teresa; Cavada CH, Gabriel; García B, Hernán.
Título: El adelanto en la telarquia y edad de la menarquia se relacióna con la malnutrición por exceso en niñas chilenas pero no en varones: estudio de base poblacional / The advance in thelarche and age of menarche is related to malnutrition by excess in Chilean girls but not in boys: population-based study
Fonte: Rev. chil. endocrinol. diabetes;11(4):134-140, dic. 2018. tab, graf.
Idioma: es.
Resumo: Introduction: Puberty normally begins after 8 years in girls and 9 years in boys. Objective: To determine the prevalence of signs of precocious puberty (PP), breast development in girls, premature gonadal development (PGD), premature adrenarche (PA), menarche age (MA) and its association with nutritional status (NS). Material and Methods: From a sample of 3.010 children from 5 to 14 years randomly selected in Santiago of Chile were chosen a subsample of 873 kids according to the cutoff to define PP. Survey was applied to obtain MA. Logistic regression were used to evaluate the relationship between PP and NS. Results: In boys the prevalence of PGD and PP was 8.55% and 3.16% respectively, no relationship was found with nutritional status In girls the prevalence of breast development and PA was 8.13% and 0.9% respectively. Only there be association between PP and NS in women: with a prevalence of 1,2%, 13,9% and 21,1% in well-nourished, Overweight and obesity are at greater risk of showing PP compared with eutrophic girls with an OR of 25,5 (IC 95% 3,2-203,0) and 46.93 (IC 95% 6,1-361,5). MA was 12,01 ± 0,94 years in eutrophic girls and 11,40 ± 0,96years in obese girls (p< 0,05). Conclusion: There was a positive correlation in females between overweight and obesity an PP and MA. There is a secular trend in MA, to compare these findings with other national studies. Obesity could have an important role in explaining the advancement observed in pubertal development.

Introducción: El desarrollo puberal se inicia normalmente después de los 8 años en niñas y de los 9 años en varones. Objetivo: Estimar la prevalencia de signos de pubertad precoz (sPP): crecimiento genital (CG) en varones, telarquia en niñas y vello púbico (VP) en ambos sexos; y determinar edad de la menarquia (EM) en una muestra de escolares de Santiago de Chile), y evaluar la asociación de estas variables con el estado nutricional (EN). Material y Métodos: Se examinaron 3.010 escolares de clase media baja de 6 a 14 años, pertenecientes a 10 colegios de Santiago de Chile y seleccionados aleatoriamente. En todos ellos se consignó peso, talla, IMC y desarrollo puberal según Tanner. Se aplicó una encuesta a los padres para obtener la EM a la población total de mujeres (n= 1.433). Para determinar sPP se analizaron por separado los 867 niños (62% mujeres) menores a la edad establecida como puntos de corte para definir PP. Se utilizó regresión logística para determinar la asociación existente entre sPP y el EN. Resultados: En varones la prevalencia de CG y VP fue de 8,55% y 3,16% y no se asocio al EN. La prevalencia de telarquia y VP en niñas fue de 8,13% y 0,9% respectivamente. Se observó una fuerte asociación entre telarquia y EN con prevalencias de 1.2%, 13.9% y 21.1% en eutróficas, sobrepeso y obesas, respectivamente (p< 0,0001) (Gráfico 1). La presencia de sobrepeso y/o obesidad otorgan un mayor riesgo de presentar telarquia, vs comparación con las niñas eutróficas con un OR de 25,5 (IC 95% 3,2-203,0) y 46.93 (IC 95% 6,1-361,5), respectivamente. La EM fue 12,01 ± 0,94 años en niñas eutróficas siendo de 11,40 ± 0,96 años en niñas obesas (p< 0,05). Conclusión: Se observó una correlación positiva solo en el sexo femenino entre malnutrición por exceso, telarquia precoz y EM. Se observa una tendencia secular en la EM al comparar los hallazgos con otros estudios nacionales.
Descritores: Puberdade Precoce/epidemiologia
Menarca/fisiologia
Estado Nutricional
Sobrepeso/epidemiologia
Obesidade/epidemiologia
-Puberdade Precoce/etiologia
Modelos Logísticos
Chile
Fatores Sexuais
Antropometria
Risco
Prevalência
Genitália/crescimento & desenvolvimento
Limites: Humanos
Masculino
Feminino
Criança
Adolescente
Responsável: CL1.1 - Biblioteca Central


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Texto completo SciELO Brasil
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Id: lil-782162
Autor: Brito, Vinícius Nahime; Spinola-Castro, Angela Maria; Kochi, Cristiane; Kopacek, Cristiane; Silva, Paulo César Alves da; Guerra-Júnior, Gil.
Título: Central precocious puberty: revisiting the diagnosis and therapeutic management
Fonte: Arch. endocrinol. metab. (Online);60(2):163-172, Apr. 2016. tab, graf.
Idioma: en.
Resumo: ABSTRACT Clinical and laboratory diagnosis and treatment of central precocious puberty (CPP) remain challenging due to lack of standardization. The aim of this revision was to address the diagnostic and therapeutic features of CPP in Brazil based on relevant international literature and availability of the existing therapies in the country. The diagnosis of CPP is based mainly on clinical and biochemical parameters, and a period of follow-up is desirable to define the “progressive” form of sexual precocity. This occurs due to the broad spectrum of pubertal development, including isolated premature thelarche, constitutional growth and puberty acceleration, progressive and nonprogressive CPP, and early puberty. Measurement of basal and stimulated LH levels remains challenging, considering that the levels are not always in the pubertal range at baseline, short-acting GnRH is not readily available in Brazil, and the cutoff values differ according to the laboratory assay. When CPP is suspected but basal LH values are at prepubertal range, a stimulation test with short-acting or long-acting monthly GnRH is a diagnostic option. In Brazil, the treatment of choice for progressive CPP and early puberty is a long-acting GnRH analog (GnRHa) administered once a month or every 3 months. In Brazil, formulations of GnRHa (leuprorelin and triptorelin) are available and commonly administered, including 1-month depot leuprorelin 3.75 mg and 7.5 mg, 1-month depot triptorelin 3.75 mg, and 3-month depot leuprorelin 11.25 mg. Monthly or 3-month depot GnRHa are effective and safe to treat CPP. Arch Endocrinol Metab. 2016;60(2):163-72.
Descritores: Puberdade Precoce/diagnóstico
Puberdade Precoce/tratamento farmacológico
Hormônio Liberador de Gonadotropina/uso terapêutico
Terapia de Reposição Hormonal/métodos
-Brasil
Hormônio Luteinizante/sangue
Fatores Sexuais
Antropometria
Hormônio Liberador de Gonadotropina/análogos & derivados
Fatores Etários
Limites: Humanos
Masculino
Feminino
Tipo de Publ: Revisão
Responsável: BR1.1 - BIREME


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Texto completo SciELO Brasil
Latronico, Ana Claudia
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Id: biblio-827792
Autor: Ludwig, Natasha G; Radaeli, Rafael F; Silva, Mariana M X; Romero, Camila M; Carrilho, Alexandre J F; Bessa, Danielle; Macedo, Delanie B; Oliveira, Maria L; Latronico, Ana Claudia; Mazzuco, Tânia L.
Título: A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy
Fonte: Arch. endocrinol. metab. (Online);60(6):596-600, Nov.-Dec. 2016. tab, graf.
Idioma: en.
Projeto: Fundação de Amparo à Pesquisa do Estado de São Paulo.
Resumo: SUMMARY Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS.
Descritores: Síndrome de Prader-Willi/tratamento farmacológico
Puberdade Precoce/tratamento farmacológico
Hormônio Liberador de Gonadotropina/uso terapêutico
Hormônio do Crescimento Humano/uso terapêutico
-Síndrome de Prader-Willi/diagnóstico
Síndrome de Prader-Willi/genética
Puberdade Precoce/complicações
Proteínas Recombinantes/efeitos adversos
Proteínas Recombinantes/uso terapêutico
Metilação de DNA
Terapia de Reposição Hormonal/métodos
Limites: Humanos
Masculino
Criança
Tipo de Publ: Relatos de Casos
Responsável: BR1.1 - BIREME


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Id: lil-743199
Autor: Laredo Reyna, María Nataly; Falen Bogio, Juan Manuel; Lipa Chancolla, Roxana; Núñez Almache, Oswaldo; Pinto, Paola; Espinoza Robles, Oscar; Chávez, Eliana; Rojas Gabulli, María Isabel; Del Aguila Villar, Carlos.
Título: Pubertad precoz y tumoración torácica: presentación de un caso / Early puberty and thoracic mass: presentation of a case
Fonte: Rev. peru. med. exp. salud publica;31(3):588-594, jul.-sep. 2014. ilus.
Idioma: es.
Resumo: Se reporta el caso de un paciente de 7 años de edad, que inicia su enfermedad con disnea progresiva, el desarrollo genital, de acuerdo con los criterios de Marshall y Tanner, muestra un estadio G2 VP3. En el tórax se halló una tumoración de bordes regulares y definidos, con presencia de calcificaciones y áreas quísticas de contenido heterogéneo. Las determinaciones basales de FSH, LH y testosterona fueron de < 10 mUI/mL, 12,2 mUI/mL y 724 ng/dL, respectivamente. La determinación de la α-feto proteína fue de 145,1 ng/mL. La exéresis del tumor mejoró el cuadro respiratorio, la remisión de los niveles hormonales y la detención del proceso de pubertad precoz. El estudio anatomopatológico de la tumoración mediastinal correspondió a un tumor de células germinales con componente predominante de teratoma maduro y coriocarcinoma. La pubertad precoz de etiología neoplásica es una causa rara, su diagnóstico es primordial para aplicar un tratamiento oportuno...

A case is reported of a 7 year old patient with progressive dyspnea and genital development according to Marshall and Tanner criteria at the G2 VP3 stage. A mass of regular and well-defined borders was found in the chest, with calcifications and cystic areas of heterogeneous content. Basal measurements of FSH, LH and testosterone were <10 mIU/mL, 12.2 mIU/mL and 724 ng/dL, respectively. α-fetoprotein was 145.1 ng/mL. Excising the tumor improved respiratory symptoms, diminished hormone levels and stopped the process of precocious puberty. Pathology of the mediastinal tumor corresponded to a germ cell tumor with a predominant component of mature teratoma and choriocarcinoma. Neoplastic causes of precocious puberty are uncommon; its diagnosis is essential in order to provide timely treatment...
Descritores: Dispneia
Puberdade Precoce
Teratoma
Tórax
-Peru
Limites: Humanos
Masculino
Criança
Tipo de Publ: Relatos de Casos
Responsável: PE14.1 - Biblioteca de la Sede Central


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Texto completo SciELO Brasil
Latronico, Ana Claudia
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Id: biblio-1019366
Autor: Canton, Ana Pinheiro Machado; Seraphim, Carlos Eduardo; Brito, Vinicius Nahime; Latronico, Ana Claudia.
Título: Pioneering studies on monogenic central precocious puberty
Fonte: Arch. endocrinol. metab. (Online);63(4):438-444, July-Aug. 2019. tab, graf.
Idioma: en.
Resumo: ABSTRACT Pubertal timing in humans is determined by complex interactions including hormonal, metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is defined as the premature reactivation of the hypothalamic-pituitary-gonadal axis, starting before the ages of 8 and 9 years in girls and boys, respectively; familial CPP is defined by the occurrence of CPP in two or more family members. Pioneering studies have evidenced the participation of genetic factors in pubertal timing, mainly identifying genetic causes of CPP in sporadic and familial cases. In this context, rare activating mutations were identified in genes of the kisspeptin excitatory pathway (KISS1R and KISS1 mutations). More recently, loss-of-function mutations in two imprinted genes (MKRN3 and DLK1) have been identified as important causes of familial CPP, describing novel players in the modulation of the hypothalamic-pituitary-gonadal axis in physiological and pathological conditions. MKRN3 mutations are the most common cause of familial CPP, and patients with MKRN3 mutations present clinical features indistinguishable from idiopathic CPP. Meanwhile, adult patients with DLK1 mutations present high frequency of metabolic alterations (overweight/obesity, early onset type 2 diabetes and hyperlipidemia), indicating that DLK1 may be a novel link between reproduction and metabolism. Arch Endocrinol Metab. 2019;63(4):438-44
Descritores: Puberdade Precoce/genética
-Fenótipo
Puberdade Precoce/etiologia
Ribonucleoproteínas/genética
Proteínas de Ligação ao Cálcio
Inativação Gênica
Peptídeos e Proteínas de Sinalização Intercelular/genética
Peptídeos e Proteínas de Sinalização Intercelular/metabolismo
Kisspeptinas/genética
Receptores de Kisspeptina-1/genética
Proteínas de Membrana/genética
Proteínas de Membrana/metabolismo
Metilação
Mutação
Limites: Humanos
Tipo de Publ: Revisão
Responsável: BR1.1 - BIREME



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BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde