Síndrome de insensibilidad completa a los andrógenos: reporte de un caso, ilustración del manejo quirúrgico

ResumenEl término “desorden en la diferenciación sexual” (DDS) representa un grupo de anormalidades en el desarrollo del tracto genitourinario, en el cual ocurre un desarrollo atípico en uno o más niveles: cromosómico, gonadal o anatómico. Los genéticamente varones 46XY pueden presentarse con genitales externos fenotípicamente femeninos o ambiguos. El síndrome de insensibilidad a los andrógenos se podría considerar una enfermedad causada por la resistencia a la acción androgénica, causada por la mutación Xq11-12, que afecta los receptores androgénicos; la presentación clínica dependerá del grado de insensibilidad, leve (masculino infértil), moderada o completa como en nuestro caso. Requiere seguimiento por psicólogo y psiquíatra para familiares y paciente, para un desarrollo psicosexual adecuado, antes y después del tratamiento quirúrgico definitivo.El objetivo del presente artículo es realizar una revisión sistemática de los artículos publicados en la base de datos de Medline, para identificar la epidemiología e incidencia del síndrome de insensibilidad completa a los andrógenos, así como reconocer su abordaje, tratamiento y seguimiento de estos casos.Se presenta paciente de 23 años de edad, sin antecedentes patológicos de importancia, la cual inicia su estudio a los 17 años de edad por el Servicio de Ginecología, por presentar amenorrea y falta de desarrollo en caracteres sexuales secundarios, tiene estudios de imagen sin evidenciar estructuras Müllerianas; se realiza laparoscopía diagnóstica en 2 ocasiones sin poder identificar órganos sexuales femeninos o vestigios de testículos; estudio hormonal con niveles de estrógenos y testosterona evidentemente bajos con hormona folículo estimulante (FSH), hormona luteinizante (LH) y hormona liberadora de gonadotropinas dentro de parámetros normales; el cariotipo reporta 46XY. En ese momento se ofrece apoyo psiquiátrico, se decide continuar con educación femenina, por lo que se resuelve colocación de prótesis mamaria. Finalmente, se nos interconsulta para la realización de vaginoplastía con uso de segmento intestinal como canal vaginal.AbstractThe term “disorders of sexual differentiation” (DSD) encompasses a group of abnormalities in the development of the genitourinary tract. Atypical development occurs at one or more chromosomal, gonadal, or anatomic levels. 46 XY genetic males may present with external genitals that are phenotypically female or ambiguous. Androgen insensitivity syndrome could be considered a disease caused by resistance to androgenic action due to the Xq11-12 mutation that affects the androgenic receptors. Clinical presentation depends on the degree of insensitivity: mild (infertile male), partial, or complete, as with our patient. Psychologic and psychiatric follow-up is required for both the patient and family members so there can be adequate psychosexual development before and after definitive surgical treatment.The aim of this article was to conduct a systematic review of published reports in the MEDLINE database to identify the epidemiology and incidence of complete androgen insensitivity syndrome and to examine the approach, treatment, and follow-up of these cases.We present herein a 23-year-old patient, with an unremarkable pathologic history, who began to be studied by the Gynecology Service at 17 years of age due to amenorrhea and lack of secondary sexual development. Imaging studies failed to show Müllerian structures. Diagnostic laparoscopy was performed on 2 occasions in which female sexual organs or vestiges of testes were unable to be identified. Hormonal study revealed obviously low levels of estrogens and testosterone, and follicle-stimulating hormone (FSH), luteinizing hormone (LH), and gonadotropinreleasing hormone were within normal parameters; 46XY karyotype was reported. Psychiatric support was then offered. It was decided that the patient would continue to be raised and treated as a female and therefore she was given breast implants. Our service was subsequently consulted for performing vaginoplasty using an intestinal segment as the vaginal canal

Síndrome de insensibilidad completa a los andrógenos: reporte de un caso, ilustración del manejo quirúrgico

ResumenEl término “desorden en la diferenciación sexual” (DDS) representa un grupo de anormalidades en el desarrollo del tracto genitourinario, en el cual ocurre un desarrollo atípico en uno o más niveles: cromosómico, gonadal o anatómico. Los genéticamente varones 46XY pueden presentarse con genitales externos fenotípicamente femeninos o ambiguos. El síndrome de insensibilidad a los andrógenos se podría considerar una enfermedad causada por la resistencia a la acción androgénica, causada por la mutación Xq11-12, que afecta los receptores androgénicos; la presentación clínica dependerá del grado de insensibilidad, leve (masculino infértil), moderada o completa como en nuestro caso. Requiere seguimiento por psicólogo y psiquíatra para familiares y paciente, para un desarrollo psicosexual adecuado, antes y después del tratamiento quirúrgico definitivo.El objetivo del presente artículo es realizar una revisión sistemática de los artículos publicados en la base de datos de Medline, para identificar la epidemiología e incidencia del síndrome de insensibilidad completa a los andrógenos, así como reconocer su abordaje, tratamiento y seguimiento de estos casos.Se presenta paciente de 23 años de edad, sin antecedentes patológicos de importancia, la cual inicia su estudio a los 17 años de edad por el Servicio de Ginecología, por presentar amenorrea y falta de desarrollo en caracteres sexuales secundarios, tiene estudios de imagen sin evidenciar estructuras Müllerianas; se realiza laparoscopía diagnóstica en 2 ocasiones sin poder identificar órganos sexuales femeninos o vestigios de testículos; estudio hormonal con niveles de estrógenos y testosterona evidentemente bajos con hormona folículo estimulante (FSH), hormona luteinizante (LH) y hormona liberadora de gonadotropinas dentro de parámetros normales; el cariotipo reporta 46XY. En ese momento se ofrece apoyo psiquiátrico, se decide continuar con educación femenina, por lo que se resuelve colocación de prótesis mamaria. Finalmente, se nos interconsulta para la realización de vaginoplastía con uso de segmento intestinal como canal vaginal.AbstractThe term “disorders of sexual differentiation” (DSD) encompasses a group of abnormalities in the development of the genitourinary tract. Atypical development occurs at one or more chromosomal, gonadal, or anatomic levels. 46 XY genetic males may present with external genitals that are phenotypically female or ambiguous. Androgen insensitivity syndrome could be considered a disease caused by resistance to androgenic action due to the Xq11-12 mutation that affects the androgenic receptors. Clinical presentation depends on the degree of insensitivity: mild (infertile male), partial, or complete, as with our patient. Psychologic and psychiatric follow-up is required for both the patient and family members so there can be adequate psychosexual development before and after definitive surgical treatment.The aim of this article was to conduct a systematic review of published reports in the MEDLINE database to identify the epidemiology and incidence of complete androgen insensitivity syndrome and to examine the approach, treatment, and follow-up of these cases.We present herein a 23-year-old patient, with an unremarkable pathologic history, who began to be studied by the Gynecology Service at 17 years of age due to amenorrhea and lack of secondary sexual development. Imaging studies failed to show Müllerian structures. Diagnostic laparoscopy was performed on 2 occasions in which female sexual organs or vestiges of testes were unable to be identified. Hormonal study revealed obviously low levels of estrogens and testosterone, and follicle-stimulating hormone (FSH), luteinizing hormone (LH), and gonadotropinreleasing hormone were within normal parameters; 46XY karyotype was reported. Psychiatric support was then offered. It was decided that the patient would continue to be raised and treated as a female and therefore she was given breast implants. Our service was subsequently consulted for performing vaginoplasty using an intestinal segment as the vaginal canal

White Paper on Light Sterile Neutrino Searches and Related Phenomenology

International audienceThis white paper provides a comprehensive review of our present understanding of experimental neutrino anomalies that remain unresolved, charting the progress achieved over the last decade at the experimental and phenomenological level, and sets the stage for future programmatic prospects in addressing those anomalies. It is purposed to serve as a guiding and motivational "encyclopedic" reference, with emphasis on needs and options for future exploration that may lead to the ultimate resolution of the anomalies. We see the main experimental, analysis, and theory-driven thrusts that will be essential to achieving this goal being: 1) Cover all anomaly sectors -- given the unresolved nature of all four canonical anomalies, it is imperative to support all pillars of a diverse experimental portfolio, source, reactor, decay-at-rest, decay-in-flight, and other methods/sources, to provide complementary probes of and increased precision for new physics explanations; 2) Pursue diverse signatures -- it is imperative that experiments make design and analysis choices that maximize sensitivity to as broad an array of these potential new physics signatures as possible; 3) Deepen theoretical engagement -- priority in the theory community should be placed on development of standard and beyond standard models relevant to all four short-baseline anomalies and the development of tools for efficient tests of these models with existing and future experimental datasets; 4) Openly share data -- Fluid communication between the experimental and theory communities will be required, which implies that both experimental data releases and theoretical calculations should be publicly available; and 5) Apply robust analysis techniques -- Appropriate statistical treatment is crucial to assess the compatibility of data sets within the context of any given model

White Paper on Light Sterile Neutrino Searches and Related Phenomenology

This white paper provides a comprehensive review of our present understanding of experimental neutrino anomalies that remain unresolved, charting the progress achieved over the last decade at the experimental and phenomenological level, and sets the stage for future programmatic prospects in addressing those anomalies. It is purposed to serve as a guiding and motivational "encyclopedic" reference, with emphasis on needs and options for future exploration that may lead to the ultimate resolution of the anomalies. We see the main experimental, analysis, and theory-driven thrusts that will be essential to achieving this goal being: 1) Cover all anomaly sectors -- given the unresolved nature of all four canonical anomalies, it is imperative to support all pillars of a diverse experimental portfolio, source, reactor, decay-at-rest, decay-in-flight, and other methods/sources, to provide complementary probes of and increased precision for new physics explanations; 2) Pursue diverse signatures -- it is imperative that experiments make design and analysis choices that maximize sensitivity to as broad an array of these potential new physics signatures as possible; 3) Deepen theoretical engagement -- priority in the theory community should be placed on development of standard and beyond standard models relevant to all four short-baseline anomalies and the development of tools for efficient tests of these models with existing and future experimental datasets; 4) Openly share data -- Fluid communication between the experimental and theory communities will be required, which implies that both experimental data releases and theoretical calculations should be publicly available; and 5) Apply robust analysis techniques -- Appropriate statistical treatment is crucial to assess the compatibility of data sets within the context of any given model

Supernova Model Discrimination with Hyper-Kamiokande

Core-collapse supernovae are among the most magnificent events in the observable universe. They produce many of the chemical elements necessary for life to exist and their remnants—neutron stars and black holes—are interesting astrophysical objects in their own right. However, despite millennia of observations and almost a century of astrophysical study, the explosion mechanism of core-collapse supernovae is not yet well understood. Hyper-Kamiokande is a next-generation neutrino detector that will be able to observe the neutrino flux from the next galactic core-collapse supernova in unprecedented detail. We focus on the first 500 ms of the neutrino burst, corresponding to the accretion phase, and use a newly-developed, high-precision supernova event generator to simulate Hyper-Kamiokandeʼs response to five different supernova models. We show that Hyper-Kamiokande will be able to distinguish between these models with high accuracy for a supernova at a distance of up to 100 kpc. Once the next galactic supernova happens, this ability will be a powerful tool for guiding simulations toward a precise reproduction of the explosion mechanism observed in nature