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

Transpiração e crescimento foliar de crisântemo em função da fração de água transpirável no substrato

The objective of this work was to evaluate the response of transpiration and leaf growth of chrysanthemum (Dendranthema grandiflorum) cultivars to available water in the substrate, represented by the fraction of transpirable substrate water (FTbSW). The experiments were performed in two periods, in a completely randomized design, with four chrysanthemum cultivars (Cherie White, Bronze Repin, Yoapple Valley, and Calabria), under two substrate water conditions (with or without water stress), with 10 replicates. Plants were grown in a greenhouse, in 2.8-L pots with substrate. FTSbW, transpiration, and leaf growth were measured daily, during the period of water deficit. The average threshold FTSbW, indicating that transpiration and leaf growth began to be affected, was respectively 0.63 and 0.68 for 'Cherie White', 0.60 and 0.69 for 'Bronze Repin', 0.53 and 0.59 for 'Yoapple Valley', and 0.51 and 0.54 for 'Calabria'. Available water decrease in the substrate reduces leaf growth before restricting transpiration. The Cherie White and Bronze Repin cultivars are more tolerant to water deficit by closing the stomata earlier and retaining more water in the substrate than the Yoapple Valley and Calabria cultivars.O objetivo deste trabalho foi avaliar a resposta da transpiração e do crescimento foliar de cultivares de crisântemo (Dendranthema grandiflorum) ao conteúdo de água disponível no substrato, representado pela fração de água transpirável no substrato (FATSb). Os experimentos foram realizados em dois períodos, em delineamento inteiramente casualizado, com quatro cultivares de crisântemo (Cherie White, Bronze Repin, Yoapple Valley e Calabria), em duas condições hídricas (com ou sem deficiência hídrica), com 10 repetições. As plantas foram cultivadas em casa de vegetação, em vasos de 2,8 L preenchidos com substrato. A FATSb, a transpiração e o crescimento foliar foram determinados diariamente durante o período de deficiência hídrica. As FATSb críticas médias, indicativas de que a transpiração e o crescimento foliar começam a ser afetados, foram respectivamente de 0,63 e 0,68 para 'Cherie White', 0,60 e 0,69 para 'Bronze Repin', 0,53 e 0,59 para 'Yoapple Valley', e 0,51 e 0,54 para 'Calabria'. A diminuição da água disponível no substrato provoca a redução do crescimento foliar antes de restringir a transpiração. As cultivares Cherie White e Bronze Repin são mais tolerantes ao deficit hídrico por fechar os estômatos antes e conservar mais a água no substrato do que as cultivares Yoapple Valley e Calabria