Data of the external genitalia in diagnostic evaluation and definition of sex of rearing of children under one year of age with disorders of sex development

• Grant number: 15/07811-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: August 01, 2015
• End date: July 31, 2016
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Gil Guerra Júnior
• Grantee: Nathalia Montibeler Ferreira
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

The severity of genital ambiguity and palpation or not gonads are clinical signs frequently used in the initial assessment, pending the outcome of the karyotype, and guiding the hormonal assessment and are important in the definition the sex of rearing of the newborn with disorder of sex development (DSD) with genital ambiguity. The Interdisciplinary Group for the Study of Determination and Differentiation of Sex (GIEDDS) at State University of Campinas (Unicamp) is responsible for the care of DSD cases in the region of Campinas (SP). From January 1989 to December 2013, the same team met and identified the etiology of 408 cases of DSD with genital ambiguity. Of these 408 cases, 232 were evaluated before reaching one year of age. Therefore, from this uniform experience and large sample, the aim of this study is to evaluate the importance of the external genitalia data in assessing the etiological diagnosis and definition of sex of rearing of patients with DSD with genital ambiguity under one year of age. We found no studies in the literature with this data, with a sample so expressive, which evaluated different etiologies simultaneously. The following data wil be obtained: initial age, initial and final sex, genital aspects (phallus size, urethral opening, labioescrotal fold fusion, palpation of gonads), karyotype and diagnostic. The data will be presented in tables and scatter plots. The variables will be categorized, where possible, and analyzed by association tests between groups of severity of genital ambiguity, according to the sex of rearing, the karyotype and the etiological diagnosis.