Approach to the Newborn with Disorders of Sex Development

Abstract

The birth of a baby with atypical external and/or internal genitalia is a family crisis that requires the interaction between multidisciplinary group physicians including pediatric urologists, pediatric endocrinologists, medical geneticists, genetic counsellors, gynecologists, psychologists/psychiatrists and social workers with expertise in this field. Following each of the specialists’ assessment the findings, plan for investigations, the psychosocial situation and gender assignment and treatment should be reviewed among the group members prior to meeting the family. Following the group discussion the information should be presented to the parents using easy to understand language with visual aids and their questions should be answered so that they can make an informed decision regarding gender assignment, surgical options, where medically indicated, and hormone treatment. Potential for sexual relationships and fertility preservation should be discussed. The birth of a baby with abnormalities may be associated with mother/parental guilt feeling and the point that there is nothing that they did or did not do that caused the newborn’s condition. Disorder of sex development (DSD) can be divided into isolated and non-isolated according to the finding on physical examination and should be further classified into abnormalities of chromosomal abnormalities, gonadal defect, internal and external genital abnormalities. Investigations should be directed by the physical examination findings and the results of the radiological, endocrine and genetic investigation including FISH analysis, microarray analysis, DNA analysis using a variety of DSD panels and, when required, whole exome/genome sequencing.