ABSTRACT
Disorders of sex development (DSD) are a group of rare complex clinical syndromes with multiple etiologies. Distinguishing the various causes of DSD is quite difficult in clinical practice, even for senior general physicians because of the similar and atypical clinical manifestations of these conditions. In addition, DSD are difficult to diagnose because most primary doctors receive insufficient training for DSD. Delayed diagnoses and misdiagnoses are common for patients with DSD and lead to poor treatment and prognoses. On the basis of the principles and algorithms of dynamic uncertain causality graph (DUCG), a diagnosis model for DSD was jointly constructed by experts on DSD and engineers of artificial intelligence. "Chaining" inference algorithm and weighted logic operation mechanism were applied to guarantee the accuracy and efficiency of diagnostic reasoning under incomplete situations and uncertain information. Verification was performed using 153 selected clinical cases involving nine common DSD-related diseases and three causes other than DSD as the differential diagnosis. The model had an accuracy of 94.1%, which was significantly higher than that of interns and third-year residents. In conclusion, the DUCG model has broad application prospects as a computer-aided diagnostic tool for DSD-related diseases.
ABSTRACT
O estudo investigou as representações de mães e pais sobre a constituição de identidade de gênero em crianças nascidas com diagnóstico de Anomalias da Diferenciação Sexual (ADS). As ADS são distúrbios da diferenciação sexual que resultam em ambiguidade genital na criança. O estudo tem um delineamento qualitativo, com três mães e três pais de crianças nascidas com ADS, de diferentes idades. Utilizou-se a entrevista narrativa e a análise de conteúdo para coleta e análise dos dados. Os resultados mostraram que mães e pais entendem que a identidade de gênero se constitui através da anatomia da genitália, do sexo de criação com o qual a criança é educada e do reconhecimento social que a criança recebe no ambiente em que vive...
The present study investigated the representations of gender identity construction by mothers and fathers whose children were born with Disorders of Sex Development (DSD). DSD are disorders of sex differentiation which result in ambiguous genitalia in children. A qualitative study with three mothers and three fathers, whose children of different ages were born with DSD, was carried out. Narrative interviews and content analyses were, respectively, the methodological procedures used to collect and analyze the data. Results showed that the criteria mothers and fathers consider as fundamental for the gender identity construction are the genital anatomy, how the child is raised, and the social recognition of the environment where the child lives...