ABSTRACT
Disorders of sexual differentiation are rare congenital conditions in which the chromosomal, anatomic or gonadal sex development is atypical. In some of these patients, chromosomal sex is inconsistent with phenotypic sex; in other cases, the phenotype is not classifiable as either male or female, resulting in a condition known as ambiguous genitalia. These are very complex cases in which diagnostic certainty is not always possible. A multidisciplinary team including geneticists, pediatricians, radiologists is certainly needed to approach these patients. We present the case of an 18-year-old boy with an XY karyotype, ambiguous genitalia, uterus and blind-ending vaginal pouch. The patient had not been previously diagnosed with a disorder of sex development. The patient underwent a panel of genetic analyses and diagnostic imaging investigations. Magnetic resonance imaging was decisive for the identification of the internal genital organs, especially the uterus. At the end of investigations, the patient was diagnosed with 46,XY disorder of sex development. Our purpose is to underline the role of imaging in the diagnosis and management of congenital disorders of sex differentiation.
ABSTRACT
Resumen Introducción: Las alteraciones del desarrollo sexual en el recién nacido no es una condición infrecuente durante la práctica médica pero sí resulta ser un reto tanto en el abordaje diagnostico como en el terapéutico. Se definen como el conjunto de condiciones en donde el desarrollo del sexo cromosómico, gonadal o anatómico es atípico. Objetivos: Realizar un abordaje integral de las alteraciones del desarrollo sexual y reconocer la importancia de los equipos transdisciplinarios para el manejo de esta patología. Metodología: Se realizó una búsqueda de la literatura con las palabras clave Disorders of sex development, Ovotesticular disorders of sex development, True Hermaphroditism, Gonadal dysgenesis, Adrenal hyperplasia, congenital en cinco bases de datos bibliográficas, se limitó la búsqueda para artículos en idioma español o inglés de los últimos 10 años. Resultados: Se obtuvieron110 artículos de los cuales 36 fueron incluidos en esta revisión, los artículos revisados eran artículos originales, presentación de casos, consensos y artículos de revisión. Conclusiones: La sensibilización al personal de salud sobre esta condición es fundamental para realizar un diagnóstico y tratamiento oportuno, con el objetivo de evitar complicaciones en la salud del recién nacido. La asignación del sexo es uno de los problemas más relevantes para el manejo de esta patología; esta decisión deberá ser tomada por el equipo transdisciplinario de especialistas con experiencia en el tema en donde se realice una evaluación detallada e individual de cada caso.
Abstract Introduction: Disorder of sexual development in newborn is not an infrequent condition during medical practice, but it does prove to be a challenge both in diagnostic and in therapeutic approaches. It is defined as the set of conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. Objectives: To carry out a comprehensive approach to sexual development alterations and to recognize the importance of transdisciplinary teams for the management of this pathology. Methodology: A search of review literature was made with the key words Disorders of sex development, Ovotesticular disorders of sex development, true hermaphroditism, gonadal dysgenesis, and congenital adrenal hyperplasia in five biomedical databases. The search has been limited to Spanish or English language articles of the last 10 years. Results: 110 articles were reviewed, of which 36 were included, they were original articles, case presentations, consensus and review articles. Conclusions: In order to avoid complications in newborn, health personnel should be sensitized, regarding this condition is essential to timely diagnosis and treatment. Assignment of sex is one of the most relevant problems for the management of this condition; this decision must be made by a transdisciplinary team of specialists with experience in the subject where a detailed and individual evaluation of each case is carried out.
Subject(s)
Infant, Newborn , Disorder of Sex Development, 46,XY , Infant, Newborn , Adrenal Hyperplasia, Congenital , Ovotesticular Disorders of Sex Development , Gonadal DysgenesisABSTRACT
Objetivo: relatar o acompanhamento multidisciplinar de um caso de hermafroditismo verdadeiro HV,diagnosticado na Fundação Santa Casa de Misericórdia do Pará. Relato de caso: paciente nascido em2000, apresentando ao exame físico falus de 1,5cm de comprimento, bolsa escrotal bífida,transposição penioescrotal, sinus urogenital, gônada esquerda canalicular distal com 1cm de diâmetro,móvel e de consistência fibroelástica, e não palpável à direita, sem demais alterações. A investigaçãodiagnóstica seguiu com realização de cariótipo [46 XY ? 90%; 45 Xr (?Y) ? 6%; 45 X ? 4%]; examesendocrinológicos; ultrassonografia e genitografia. Foi submetido à laparotomia exploradora, comidentificação de útero rudimentar, tubas uterinas bilateralmente, gônada direita na cavidade de aspectoarredondado e gônada esquerda penetrando no anel inguinal profundo. Biópsia de congelação teveresultado inconclusivo, mas após revisão diagnosticou ovotéstis bilateralmente e presença de tecidoepididimário e tuba ovariana. Assim, o diagnóstico de HV foi estabelecido. Foi realizada novalaparotomia exploradora, histerectomia total, salpingectomia com gonadectomia direita, gonadectomiaesquerda por via escrotal e vaginectomia. Em 2009, foi realizado o primeiro tempo da correção dehispospádia perineal. Considerações finais: diferente do que acontece na maioria dos casos, o casorelatado tem cariótipo em mosaico, acompanhado de ambigüidade genital, o que possibilitouinvestigação precoce, visto que o tratamento tardio na maioria das vezes se justifica pela falta dealteração na genitália externa. O acompanhamento multidisciplinar foi determinante para a conduçãodo caso.
Objective: to report the multidisciplinary follow-up of a diagnosed case of true hermaphroditism inthe Santa Casa de Misericórdia do Pará. Final Considerations: unlike what happens in most cases,the reported case is a mosaic kariotype, with ambiguous genitalia, which allowed an earlyinvestigation, since the late treatment is most often justified by the lack of change in the externalgenitalia. The follow-up was crucial to the conduct of the case.
ABSTRACT
A 21-year-old patient with cryptorchidism was found to have a left inguinal mass on physical examination. The patient was operated with a diagnosis of bilateral cryptorchidism and left inguinal hernia. Besides bilateral inguinal undescended testicles, female genital organs like fallopian tubes, uterus and ovary were found on the exploration.