الملخص
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
الموضوعات
Humans , Child , Puberty, Precocious/diagnosis , Puberty, Precocious/epidemiology , COVID-19/epidemiology , Communicable Disease Control , Cross-Sectional Studies , Pandemics , Endocrinologists , SARS-CoV-2الملخص
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.
الموضوعات
Humans , Female , Child , Puberty, Precocious/diagnosis , Puberty, Precocious/drug therapy , Puberty, Precocious/epidemiology , COVID-19/epidemiology , Communicable Disease Control , Retrospective Studies , Pandemicsالملخص
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.
الموضوعات
Humans , Female , Child , Puberty, Precocious/diagnosis , Puberty, Precocious/epidemiology , COVID-19/epidemiology , Case-Control Studies , Communicable Disease Control , Incidence , Gonadotropin-Releasing Hormone , Pandemicsالملخص
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.
الموضوعات
Child , Female , Humans , Early Diagnosis , Luteinizing Hormone/chemistry , Puberty, Precocious/diagnosis , Retrospective Studies , Uterus/pathologyالملخص
Introducción. El síndrome de McCune-Albright (SMA) es un trastorno genético caracterizado por displasia ósea fibrosa, manchas cutáneas color "café con leche" e hiperfunción autónoma de uno o varios órganos endocrinos. El SMA es producido por mutaciones activadoras del gen GNAS1. La endocrinopatía más frecuente es la gonadal, que se manifiesta como pubertad precoz periférica. Objetivo. Describir las características clínicas y los estudios de laboratorio e imágenes en el momento del diagnóstico y a lo largo de la evolución de la enfermedad, con énfasis en la tríada clásica del síndrome. Población y métodos. Estudio clínico observacional, descriptivo, retrospectivo de las historias clínicas de pacientes con SMA de la División de Endocrinología del Hospital de Niños Ricardo Gutiérrez desde 1974 hasta 2019. Resultados. Se presentan 12 niñas. Todas tuvieron pubertad precoz periférica (PPP) secundaria a quistes ováricos funcionantes. La edad de presentación fue temprana (2,6 ± 1,3 años). Los niveles de gonadotrofinas estuvieron suprimidos o en rango prepuberal con niveles de estradiol generalmente elevados. Diez niñas tuvieron manchas "café con leche" desde el nacimiento. Durante la evolución se detectó displasia fibrosa poliostótica en todas las pacientes. Los tratamientos utilizados para disminuir la recurrencia de los quistes ováricos y los efectos del hiperestrogenismo mostraron diferente eficacia. Conclusiones. En esta serie, la aparición de PPP contribuyó al diagnóstico temprano del SMA y fue de difícil tratamiento. En la evolución persistió la hiperfunción gonadal y empeoraron las lesiones óseas.
Introduction. McCune-Albright syndrome (MAS) is a genetic disorder defined by fibrous dysplasia of bone, café-au-lait skin spots, and autonomous hyperfunction of one or more endocrine organs. MAS is caused by activating mutations of the GNAS1 gene. The most frequent type of endocrinopathy is gonadal endocrinopathy in the form of peripheral precocious puberty. Objective. To describe the clinical characteristics, laboratory and imaging tests at the time of diagnosis and over the course of the disease, focusing on the classical triad of MAS. Population and methods. Observational, descriptive, retrospective clinical study of patients with MAS seen at the Department of Endocrinology of Hospital de Niños Ricardo Gutiérrez between 1974 and 2019. Results. Twelve girls are described, all of whom developed peripheral precocious puberty (PPP) secondary to functional ovarian cysts. Their age at presentation was early (2.6 ± 1.3 years). Gonadotropin levels were suppressed or in the prepubertal range with generally high estradiol levels. Ten girls had café-au-lait skin spots since birth. During the course of disease, polyostotic fibrous dysplasia was detected in all patients. The treatments used to reduce ovarian cyst recurrence and hyperestrogenism effects showed varied effectiveness. Conclusions. In this series, the onset of PPP helped to make an early diagnosis of MAS and was difficult to treat. The course of disease showed persistent gonadal hyperfunction and worsening of bone injuries
الموضوعات
Humans , Female , Infant , Child, Preschool , Child , Adolescent , Puberty, Precocious/diagnosis , Puberty, Precocious/etiology , Puberty, Precocious/therapy , Fibrous Dysplasia, Polyostotic/complications , Fibrous Dysplasia, Polyostotic/diagnosis , Fibrous Dysplasia, Polyostotic/therapy , Retrospective Studies , Follow-Up Studies , Cafe-au-Lait Spots/diagnosis , Cafe-au-Lait Spots/therapy , Neoplasm Recurrence, Localالملخص
ABSTRACT Objective To determine whether first-voided urinary LH (FV-ULH) - level measurement can adequately assess pubertal suppression as much as standard tests can. Subjects and methods The study group included patients with central precocious puberty and rapidly progressing early puberty who received up to 3 - 4 doses of GnRHa therapy monthly and did not have adequate hormonal suppression after GnRH stimulation (90-minute LH level > 4 IU/L). Design: All of the participants underwent an LHRH test just after admission to the study. According to the stimulated peak LH levels, the patients were divided into 2 groups and followed until the end of the first year of treatment. The concordance between FV-ULH and stimulated LH levels was assessed. Results The FV-ULH levels in patients with inadequate hormonal suppression were significantly high compared to patients with adequate hormonal suppression. FV-ULH levels were very strongly correlated with stimulated LH levels (r = 0.91). Its correlation with basal LH levels was significant (r = 0.65). However, this positive correlation was modestly weakened after the first year of treatment. The cutoff value for FV-ULH of 1.01 mIU/mL had the highest sensitivity (92.3%) and specificity (100%). Conclusion FV-ULH levels, using more reliable and sensitive assay methods, can be used to monitor the adequacy of GnRHa therapy.
الموضوعات
Humans , Male , Female , Child , Puberty, Precocious/diagnosis , Luteinizing Hormone/urine , Gonadotropin-Releasing Hormone/administration & dosage , Leuprolide/administration & dosage , Triptorelin Pamoate/administration & dosage , Puberty, Precocious/urine , Puberty, Precocious/drug therapy , Prospective Studies , ROC Curve , Sensitivity and Specificity , Treatment Outcomeالملخص
Resumen Introducción: La Sociedad Mexicana de Endocrinología Pediátrica presenta recomendaciones para el diagnóstico y el tratamiento de la pubertad precoz (PP), condición definida como el desarrollo de caracteres sexuales por incremento en la secreción hipofisiaria de gonadotropinas antes de los 8 años en las niñas y de los 9 años en los niños. Métodos: Se realizaron tres revisiones sistemáticas de ensayos clínicos controlados sobre intervenciones para el tratamiento de la PP, pruebas diagnósticas y estudios observacionales sobre efectos a largo plazo de la PP. La evaluación de la calidad de los estudios y la extracción de datos se realizó por pares. La evidencia se graduó con el sistema de la Scottish Intercollegiate Guidelines Network (SIGN) y del Oxford Centre for Evidence-Based Medicine (OCEBM) para las recomendaciones sobre la intervención y el diagnóstico, respectivamente. Las recomendaciones generadas se sometieron a un consenso por el método Delphi y fueron validadas por otros 143 endocrinólogos pediatras certificados mediante un cuestionario en línea. Resultados: Mediante consenso se generaron 12 recomendaciones para el diagnóstico de PP, siete sobre diagnóstico de causas secundarias de PP, ocho sobre intervenciones para inhibición de la pubertad, cinco sobre otras intervenciones en PP y 14 para la monitorización del tratamiento y el seguimiento de estos pacientes. Se obtuvo más del 90% de aprobación para cada una de las recomendaciones por el grupo de endocrinólogos certificados que respondieron el cuestionario en línea. Conclusiones: Si bien se logró un alto grado de consenso para las recomendaciones para el diagnóstico, el tratamiento y la monitorización de la PP entre los endocrinólogos pediatras, el nivel de evidencia para la mayoría de estas recomendaciones resultó bajo.
Abstract Background: The Mexican Society of Pediatric Endocrinology presents recommendations for the diagnosis and treatment of precocious puberty (PP), a condition defined as the development of sexual characteristics due to an increase in pituitary gonadotropin secretion before 8 or 9 years of age in girls and boys, respectively. Methods: Three systematic reviews were conducted: controlled clinical trials on interventions for PP treatment, diagnostic tests, and observational studies on the long-term effects of PP. The quality evaluation and data extraction from the studies were conducted by two independent reviewers. The Scottish Intercollegiate Guidelines Network and the Oxford Center for Evidence-Based Medicine systems were used for grading the quality of evidence for recommendations on intervention and diagnosis, respectively. Recommendations were submitted to a consensus by a Delphi method and were validated by another 143 certified pediatric endocrinologists through an online questionnaire. Results: The group generated 12 recommendations on the diagnosis of PP, seven on the diagnosis of secondary causes of PP, eight on interventions for inhibition of puberty, five on other interventions for PP treatment, and 14 for the monitoring and follow-up of these patients. The online questionnaires submitted to certified pediatric endocrinologists showed more than 90% of approval for each one of the recommendations. Conclusions: Although a high degree of consensus for the recommendations for diagnosis, treatment, and monitoring of PP among pediatric endocrinologists was achieved, most of these recommendations showed a low level of evidence.
الموضوعات
Child , Female , Humans , Male , Puberty, Precocious/therapy , Practice Guidelines as Topic , Pituitary Gland/metabolism , Puberty, Precocious/diagnosis , Delphi Technique , Systematic Reviews as Topic , Gonadotropins/metabolism , Mexicoالملخص
Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con el diagnóstico de pubertad precoz. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este suplemento.
Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the diagnosis of precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be accessed in this same supplement.
الموضوعات
Child , Humans , Puberty, Precocious/diagnosis , Mexicoالملخص
Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con el diagnóstico de causas secundarias de pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.
Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the diagnosis of secondary causes of central PP. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be consulted in this same supplement.
الموضوعات
Child , Humans , Puberty, Precocious/diagnosis , Puberty, Precocious/etiology , Mexicoالملخص
Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con las intervenciones para inhibir la pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.
Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the interventions for the inhibition of central precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be consulted in this same supplement.
الموضوعات
Child , Humans , Puberty, Precocious/therapy , Puberty, Precocious/diagnosis , Mexicoالملخص
Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con intervenciones adyuvantes en el tratamiento de la pubertad precoz distintas de la inhibición de la pubertad. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.
Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the complementary interventions for the treatment of precocious puberty besides puberty blockade. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based, can be consulted in this same supplement.
الموضوعات
Child , Humans , Puberty, Precocious/therapy , Puberty, Precocious/diagnosis , Mexicoالملخص
Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con la monitorización del tratamiento y el seguimiento de pacientes con pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.
Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the monitorization of the treatment and follow-up of patients with central precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based, can be consulted in this same supplement.
الموضوعات
Child , Humans , Puberty, Precocious/therapy , Puberty, Precocious/diagnosis , Mexicoالملخص
Resumen Se realizaron tres revisiones sistemáticas para la formulación de las recomendaciones sobre diagnóstico, tratamiento y seguimiento de pacientes con pubertad precoz: intervenciones para el tratamiento de la pubertad precoz que incluyeran los desenlaces de talla final o casi final, salud mental, salud metabólica, salud ósea o éxito en el bloqueo; estudios observacionales comparativos que evaluaran desenlaces a largo plazo en sujetos con antecedentes de pubertad precoz; y por último, estudios de exactitud de prueba diagnóstica para pubertad.
Abstract Three systematic reviews were conducted to formulate the recommendations on diagnosis, treatment and follow-up of patients with precocious puberty: interventions for the treatment of precocious puberty that included the outcomes of final or near-final height, mental health, metabolic health, health bone, or blockade success; comparative observational studies evaluating long-term outcomes in subjects with a history of precocious puberty; and diagnostic test accuracy studies for puberty.
الموضوعات
Child , Humans , Puberty, Precocious/therapy , Practice Guidelines as Topic , Puberty, Precocious/diagnosis , Systematic Reviews as Topic , Mexicoالملخص
La hipertricosis cubital es un aumento localizado de la densidad, longitud y espesor del vello. Es una entidad benigna con muy escasos pacientes descritos en la literatura médica (alrededor de medio centenar). La mitad de los casos descritos asocian otros defectos o malformaciones, y la otra mitad son problemas puramente estéticos. La pubarquia precoz en niñas se define como el inicio del vello púbico antes de los 8 años de edad. Se presenta a una paciente de 6 años con la asociación no descrita previamente de hipertricosis cubital y pubarquia precoz.
Hypertrichosis cubiti is a localized increase in hair density, length and thickness. It is an uncommon and benign entity with very few patients described in the medical literature (more or less than half a hundred). Half of the described patients associate other defects or malformations and the other half are purely aesthetic cases. Early pubarche in girls is defined as the onset of pubic hair before 8 years of age. We present a six-year-old patient with the association not previously described of hypertrichosis cubiti and precocious pubarche.
الموضوعات
Humans , Female , Child , Puberty, Precocious/diagnosis , Growth Disorders/diagnosis , Hypertrichosis/congenital , Puberty, Precocious/pathology , Growth Disorders/pathology , Hypertrichosis/diagnosis , Hypertrichosis/pathologyالملخص
INTRODUCCIÓN: Entre las causas de pubertad precoz periférica en el varón están los tumores secretores de betagonadotrofina coriónica humana (Β-HCG), como hepatoblastomas, disgerminomas, corio-carcinomas y teratomas inmaduros. En pediatría los teratomas mediastínicos son raros, representan el 7-10% de los teratomas extragonadales. OBJETIVO: Describir caso de un paciente que cursa con pubertad precoz periférica debida a teratoma tímico secretor de Β-HCG. CASO CLÍNICO: Escolar masculino de 7 años 10 meses consultó por cuadro de 3 meses de cambios de la voz, ginecomastia, aparición de vello pubiano y aumento de volumen genital. En exámenes destacaba edad ósea de 9 años, testosterona total 9,33ng/ml (< 0,4ng/ml), dehidroepiandrosterona sulfato (DHEAS), 17-hidroxi-progesterona (17-OH-P) y prueba de hormona adrenocorticotrofina (ACTH) normales, hormona luteinizante (LH) y hormona folículo estimulante (FSH) basales bajas, Β-HCG 39,5mU/ml (< 2,5 mUI/ml), alfa fetoproteína (α-FP) 11,2ng/ml (0,6-2,0 ng/ml). Estudio de imágenes para determinar origen de secreción de Β-HCG incluye: ecografía testicular y tomografla axial computarizada (TAC) torácica, abdominal y pelviana normales; resonancia cerebral y selar sin hallazgos significativos. Tomografía por emisión de positrones/tomografía computada (PET SCAN) evidenció imagen de tumor en mediastino antero-superior. Se resecó el tumor, cuya biopsia evidenció teratoma quístico inmaduro en timo. Evolución postoperatoria fue satisfactoria, con normalización de niveles hormonales. CONCLUSIÓN: La presentación de un teratoma en paciente pediátrico es infrecuente, aún más, si es inmaduro, su localización es tímica y es secretor de Β-HCG. Es relevante considerarlo dentro de diagnósticos diferenciales frente a pubertad precoz, de modo que pueda efectuarse un manejo oportuno.
INTRODUCTION: Among the causes of peripheral precocious puberty in men are the beta- human cho rionic gonadotropin (Β-HCG)-secreting tumors, such as hepatoblastomas, dysgerminomas, chorio carcinomas, and immature teratomas. In pediatrics, the mediastinal teratomas are rare, representing the 7-10% of extragonadal teratomas. OBJECTIVE: To describe the case of a patient with peripheral precocious puberty due to a Β-HCG -secreting thymic teratoma. CLINICAL CASE: A seven-years-old schoolboy presents a three-months history of voice changes, gynecomastia, pubic hair appearance, and increased genital volume. In the exams, bone age of nine years, total testosterone 9.33ng/ml (< 0.4ng/ml), dehydroepiandrosterone sulfate (DHEAS), 17-hydroxyprogesterone (17-OHP), and normal adrenocorticotropic hormone (ACTH) test stand out; luteinizing hormone (LH) and follicle stimulating hormone (FSH) with low basal levels, P-HCG 39.5mU/ml (< 2.5 mUI/ml), alpha feto protein (Α-FP) 11,2ng/ml (0.6-2.0 ng/ml). Imaging study to determine the origin of P-HCG secretion shows normal testicular ultrasound and thoracic, abdominal, and pelvic computerized axial tomo graphy (CAT); brain and sellar resonance without significant findings. The positron emission tomography/computed scan (PET SCAN) shows a tumor image in the anterosuperior mediastinum. The tumor is resected, and the biopsy shows an immature cystic teratoma in the thymus. Post-operatory evolution was satisfactory, with normalization of hormonal levels. CONCLUSION: The appearance of a teratoma in a pediatric patient is rare, even more if it is immature, with thymic location and Β-HCG- secretor. It is important to consider it within the differential diagnosis facing precocious puberty, as a better way to handle appropriately.
الموضوعات
Humans , Male , Child , Puberty, Precocious/etiology , Teratoma/diagnosis , Thymus Neoplasms/diagnosis , Chorionic Gonadotropin, beta Subunit, Human/metabolism , Puberty, Precocious/diagnosis , Teratoma/complications , Teratoma/metabolism , Thymus Neoplasms/complications , Thymus Neoplasms/metabolismالملخص
Abstract Objective: Diagnosis of central precocious puberty has always been challenging in clinical practice. As an important method in the diagnosis of central precocious puberty, luteinizing hormone-releasing hormone stimulation test is complex and time-consuming. In many cases, clinical traits are inconsistent with luteinizing hormone-releasing hormone stimulation test results, therefore not reliable for diagnosis. In this study, the authors intended to find an indicator that predicts the results of the luteinizing hormone-releasing hormone stimulation test among subjects with early pubertal signs. Methods: Cases of 382 girls with early breast development before 8 years old and luteinizing hormone-releasing hormone stimulation test before 9 years old were included and underwent follow-up tests. Patients with peak luteinizing hormone level ≥5 IU/L were considered positive in the luteinizing hormone-releasing hormone stimulation test. Anthropometric data, body mass index, bone age evaluation, blood hormones levels of luteinizing hormone, estradiol, follicle-stimulating hormone, and uterine and ovarian volumes were analyzed. Results: Subjects with positive results in the initial test demonstrated early bone maturation, accelerated growth, and elevated basal blood luteinizing hormone, estradiol, and follicle-stimulating hormone levels, when compared with subjects with negative results in the initial test. Subjects with positive results in the follow-up test presented a more advanced bone age and more accelerated linear growth, when compared with subjects with negative results in the follow-up test. Conclusions: According to the statistical analysis, advanced bone age is the most effective predictor of the result of luteinizing hormone-releasing hormone stimulation test.
Resumo Objetivo: O diagnóstico da puberdade precoce central sempre foi complicado na prática clínica. Como um importante método no diagnóstico de puberdade precoce central, o teste de estimulação do hormônio liberador do hormônio luteinizante é complexo e demorado. Em muitos casos, as características clínicas são incompatíveis com os resultados do teste de estimulação do hormônio liberador do hormônio luteinizante e, assim, não são confiáveis para o diagnóstico. Neste estudo, visamos constatar um indicador que previsse os resultados do teste de estimulação do hormônio liberador do hormônio luteinizante entre indivíduos com sinais puberais precoces. Métodos: Foram incluídos casos de 382 meninas com desenvolvimento precoce das mamas antes dos 8 anos de idade e teste de estimulação do hormônio liberador do hormônio luteinizanteantes dos 9 anos e elas foram submetidas a testes de acompanhamento. Os resultados das pacientes com nível máximo de hormônio luteinizante ≥ 5 IU/L foram consideradas positivos no teste de estimulação do hormônio liberador do hormônio luteinizante. Foi feita uma análise dos dados antropométricos, do índice de massa corporal, da avaliação da idade óssea, dos níveis sanguíneos de hormônio luteinizante, volumes uterinos e ovarianos de estradiol (E2) e do hormônio folículo-estimulante. Resultados: Os indivíduos com resultado positive no teste inicial demonstraram maturação precoce do osso, crescimento acelerado e níveis sanguíneos elevados de hormônio luteinizante, estradiol e hormônio folículo-estimulante, em comparação aos indivíduos com resultados negativos no teste inicial. Os indivíduos com resultados positivos no teste de acompanhamento apresentaram um maior avanço na idade óssea e crescimento linear mais acelerado, em comparação aos indivíduos com resultados negativos no teste de acompanhamento. Conclusões: De acordo com a análise estatística, a idade óssea avançada é o indicador mais efetivo do resultado do teste de estimulação do hormônio liberador do hormônio luteinizante.
الموضوعات
Humans , Female , Child , Puberty, Precocious/diagnosis , Luteinizing Hormone/blood , Age Determination by Skeleton , Estradiol/blood , Follicle Stimulating Hormone/blood , Puberty, Precocious/blood , Biomarkers/blood , Predictive Value of Tests , Sensitivity and Specificityالملخص
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.
الموضوعات
Humans , Male , Female , Puberty, Precocious/diagnosis , Puberty, Precocious/drug therapy , Gonadotropin-Releasing Hormone/therapeutic use , Hormone Replacement Therapy/methods , Brazil , Luteinizing Hormone/blood , Sex Factors , Anthropometry , Gonadotropin-Releasing Hormone/analogs & derivatives , Age Factorsالملخص
Pubertad precoz central (PPC) se caracteriza por la aparición de un desarrollo mamario progresivo en las niñas antes de los 8 años con posterior aparición de vello pubiano y axilar seis meses más tarde del inicio de la telarquia. La administración de análogos de la Hormona liberadora de la Gonadotropina (aGnRH) ha sido el tratamiento de elección. Estudio observacional, transversal, retrospectivo. Muestra comprendida por 61 pacientes controlados en consulta externa de Endocrinología del Hospital Nacional de Niños Benjamín Bloom en período de 2004 al 2014. Se realizó una descripción de las variables obtenidas a través de un instrumento, recolección de datos, utilizando como fuente de información el expediente clínico. El 100% de los pacientes fueron femeninos. El 95% provino de áreas urbanas. La media de edad de diagnóstico fue de 7.0 años, la edad media de inicio de síntomas 6.4 años. Todos los casos fueron idiopáticos. El síntoma inicial más frecuente fue la telarquia (n= 43, 70.4%). Recibieron tratamiento con aGnRh 29 (47.5%) pacientes, de los cuales (n=8 27.5%) lo obtuvieron por menos de un año. Talla adulta final media con tratamiento 150.5 cm, mientras que los que no recibieron 150.9. Todos los pacientes pertenecieron al sexo femenino. La mayoría (95%) son de origen urbano. La edad de diagnóstico de la enfermedad en la población estudiada concuerda con la sugerida para el manejo en guías internacionales. Todos los casos fueron idiopáticos. La talla adulta final es inferior a las obtenidas en estudios diferentes. Menos de la mitad de los pacientes recibieron tratamiento con aGnRh. Los pacientes tratados presentaron mayor velocidad de crecimiento
الموضوعات
Puberty, Precocious/diagnosis , Pediatrics , Diagnostic Techniques, Endocrineالملخص
Los hamartomas hipotalámicos son malformaciones no neoplásicas de sustancia gris compuestas por neuronas hiperplásicas. Suelen ser lesiones pequenas localizadas en la base del cerebro, en el piso del tercer ventrículo y, generalmente, asintomáticas. Sin embargo, pueden ocurrir con alteraciones conductuales-cognitivas, crisis epilépticas y/o signos de pubertad precoz central en función de la localización en la que se encuentren. Se presentan dos pacientes de 2 años 8 meses y 7 años, con presencia de hamartomas hipotalámicos diagnosticados tras el estudio de pubertad precoz central. La paciente de menor edad presenta, además, crisis gelásticas, típicamente asociadas a hamartomas hipotalámicos. Tras los hallazgos clínicos y radiológicos, se trataron con análogos de gonadotropinas, y se observó una regresión de los signos puberales y una no progresión del tamano de los hamartomas.
Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 2(8/12) and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed.