RESUMEN
INTRODUCTION: Urethral insertion of foreign bodies is an infrequent emergency, being it exceptionally rare in prepubertal children. Both clinical presentation and the introduced elements are varied. Although sexualabuse and mental disorders must always be considered, these events are mainly related to the children's own body self-discovery without any sexual connotation. Endourologic approach is the treatment of choice while the need for conventional surgery is unusual. OBJECTIVE: To review clinical and therapeutic aspects of the insertion of urethral foreign bodies in early childhood, and to report two new clinical cases. MATERIALS AND METHODS: A 7-year-old boy and a 5-year-old boy, brought to emergency for referring the insertion of a metallic foreign body in the urethra. Both were oligosymptomatic, and the diagnosis was confirmed by radiology. They were treated with an endourological approach without any complications. CONCLUSION: The introduction of foreign bodies in the urinary tract is an unusual problem in prepubertal children. Theirs approach must be individualized, not only limited to the removal of the foreign body but also to the exclusion of child abuse and psychiatric disorders.
INTRODUCCIÓN: La inserción uretral de cuerpos extraños es una urgencia poco frecuente, siendo excepcional en niños prepuberales. La presentación clínica y los elementos utilizados son muy variables. En los preadolescentes el incidente está relacionado al autoconocimiento corporal sin una connotación sexual, aunque siempre debe contemplarse la posibilidad de abuso infantil y alteraciones mentales. El tratamiento de elección es el endourológico, siendo inusual la necesidad de una cirugía convencional.OBJETIVO: Realizar una revisión clínica y terapéutica de la inserción de cuerpos extraños uretrales en la primera infancia, con el reporte de dos nuevos casos clínicos.MATERIAL Y MÉTODO: Niño de 7 y otro de 5 años, traídos a la consulta por referir la inserción de un cuerpo extraño metálico en la uretra. Ambos fueron oligosintomáticos, y el diagnóstico fue confirmado por radiología. Se trataron por vía endourológica sin complicaciones.CONCLUSIÓN: La introducción de cuerpos extraños en el tracto urinario es un problema infrecuente en niños prepuberales. Su abordaje debe ser individualizado, no sólo limitado a la extracción del cuerpo extraño sino también a la exclusión de abuso infantil y trastornos psiquiátricos.
Asunto(s)
Cuerpos Extraños , Niño , Preescolar , Servicio de Urgencia en Hospital , Cuerpos Extraños/diagnóstico por imagen , Cuerpos Extraños/cirugía , Humanos , Masculino , Radiografía , Conducta Sexual , Uretra/diagnóstico por imagen , Uretra/cirugíaRESUMEN
INTRODUCTION: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. OBJECTIVE: To describe two patients with genital malformation with genetic diagnosis of severe variants of Klinefelter syndrome, and to review clinical and therapeutic aspects. CLINICAL CASES: Case 1: Diagnosis of atypical genitalia at birth: Small and curved phallus with the urethral meatus at scrotal level, and bifid scrotum. No other somatic abnormality was observed, except for subtle clinodactyly of the fifth finger. Karyotype: 49, XXXXY. At one year of life, genitalia were reconstructed. The patient presented a global developmental delay, mainly in language, which was managed with early stimulation and speech and language therapy since he was two months old. Finally, he was able to attend kindergarten. Case 2: At one month of life, a small and severe curved phallus (more than 70°) was observed, and testicles were in the scrotum. Karyotype: 48, XXYY. At one year of life, the penile malformation was corrected. The patient presented global developmental delay, mainly in expressive language which was managed with early stimulation since the age of four months, achieving kindergarten attendance. CONCLUSION: Genital malformations led to the diagno sis of severe variants of Klinefelter syndrome, and were corrected around the year of life. The early identification of these variants allowed the intervention of the neurostimulation team, favoring the neurocognitive development and social integration of these children.
Asunto(s)
Genitales/anomalías , Síndrome de Klinefelter/diagnóstico , Femenino , Humanos , Recién Nacido , Síndrome de Klinefelter/patología , Masculino , Índice de Severidad de la EnfermedadRESUMEN
Resumen: Introducción: El síndrome de Klinefelter y sus variantes, como alteración en el número de cromosomas sexuales, se encuentra entre los trastornos del desarrollo sexual. Sus portadores manifiestan hipogonadismo hipergonadotrófico en la pubertad; las variantes severas presentan además problemas neurocognitivos y del lenguaje desde edades tempranas. Objetivo: Describir dos pacientes portadores de mal formación genital con diagnóstico genético de variantes severas de síndrome de Klinefelter; y revisar aspectos clínicos y terapéuticos. Casos Clínicos: Caso 1: Diagnóstico de genitales atípicos al nacer: Falo pequeño y corvo con meato uretral a nivel escrotal y escroto bífido. Sin otra anomalía somática, excepto sutil clinodactilia del 5 dedo. Cariotipo: 49,XXXXY. Al año de vida se reconstruyeron los genitales. Evolucionó con retraso global del desarrollo, principalmente del lenguaje, manejado con estimulación temprana kinésica y fonoaudiológica desde los 2 meses, logró integrarse en un jardín de infantes. Caso 2: Al mes de vida se constató falo pequeño y corvo severo (más de 70°), testículos en bolsa. Cariotipo: 48,XXYY. Al año de vida se corrigió malformación del pene. Evolucionó con retraso global del desarrollo, fundamentalmente en el lenguaje expresivo, y fue manejado con el equipo de estimulación temprana desde los 4 meses, logrando adaptación en un jardín de infantes. Conclusión: Las malformaciones genitales condujeron al diagnóstico de variantes severas de síndrome de Klin efelter, y fueron corregidas alrededor del año de vida. La identificación temprana de estas variantes permitió la intervención del equipo de neuroestimulación, favoreciendo el desarrollo neurocognitivo y la integración social de estos niños.
Abstract: Introduction: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. Objective: To describe two patients with genital malformation with genetic diagnosis of severe variants of Klinefelter syndrome, and to review clinical and therapeutic aspects. Clinical Cases: Case 1: Diagnosis of atypical genitalia at birth: Small and curved phallus with the urethral meatus at scrotal level, and bifid scrotum. No other somatic abnormality was observed, except for subtle clinodactyly of the fifth finger. Karyotype: 49, XXXXY. At one year of life, genitalia were reconstructed. The patient presented a global developmental delay, mainly in language, which was managed with early stimulation and speech and language therapy since he was two months old. Finally, he was able to attend kindergarten. Case 2: At one month of life, a small and severe curved phallus (more than 70°) was observed, and testicles were in the scrotum. Karyotype: 48, XXYY. At one year of life, the penile malformation was corrected. The patient presented global developmental delay, mainly in expressive language which was managed with early stimulation since the age of four months, achieving kindergarten attendance. Conclusion: Genital malformations led to the diagno sis of severe variants of Klinefelter syndrome, and were corrected around the year of life. The early identification of these variants allowed the intervention of the neurostimulation team, favoring the neurocognitive development and social integration of these children.