Jakub Mieszczak1, Christopher P Houk, Peter A Lee. 1. Section of Pediatric Endocrinology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Abstract
PURPOSE OF REVIEW: Infants born with ambiguous genitalia [henceforth referred to as Disorder of Sex Development (DSD)] present a unique set of clinical challenges requiring an organized yet practical approach. Given the low frequency with which these types of patients are encountered, their management is best accomplished by practitioners experienced with DSDs. The goal is to discuss, in light of recent publications, information required to make rational management decisions and provide our perspective. RECENT FINDINGS: An overview of DSD with recent publications germane to diagnosis, management, and sex of rearing decisions is presented. Most DSD etiologies are rare and outcome studies are scarce. A high degree of uncertainty and low level of scientific support have led to most of the controversies in this field. SUMMARY: Care of a DSD infant must be individualized. Management decisions are based on multiple factors including reproductive anatomy, DSD etiology, parental/cultural factors, and most importantly outcome. Parents should be provided with an objective, realistic, and complete assessment of their child's condition including a discussion of the level of uncertainty (regarding outcome) inherent in each individual case. The medical care team must strike a balance between presenting available outcome data and differing opinions on DSD management in helping parents reach management decisions, particularly concerning sex of rearing.
PURPOSE OF REVIEW: Infants born with ambiguous genitalia [henceforth referred to as Disorder of Sex Development (DSD)] present a unique set of clinical challenges requiring an organized yet practical approach. Given the low frequency with which these types of patients are encountered, their management is best accomplished by practitioners experienced with DSDs. The goal is to discuss, in light of recent publications, information required to make rational management decisions and provide our perspective. RECENT FINDINGS: An overview of DSD with recent publications germane to diagnosis, management, and sex of rearing decisions is presented. Most DSD etiologies are rare and outcome studies are scarce. A high degree of uncertainty and low level of scientific support have led to most of the controversies in this field. SUMMARY: Care of a DSD infant must be individualized. Management decisions are based on multiple factors including reproductive anatomy, DSD etiology, parental/cultural factors, and most importantly outcome. Parents should be provided with an objective, realistic, and complete assessment of their child's condition including a discussion of the level of uncertainty (regarding outcome) inherent in each individual case. The medical care team must strike a balance between presenting available outcome data and differing opinions on DSD management in helping parents reach management decisions, particularly concerning sex of rearing.
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