Atypical genitalia, formerly known as ambiguous genitalia, is a rare disorder in which your newborn’s external genitals aren’t clearly defined. Your infant may not have the typical genitals of a male or a female.

Aug 27, 2024 · Atypical genitalia, formerly called ambiguous genitalia, is a rare condition in which an infant's genitals don't appear to be clearly male or female on the outside.

Mar 22, 2023 · Until a consensus is reached on this issue, we will use the term DSD but only apply it to patients with atypical development of the external genitalia. Many of these individuals present as newborns with an atypical genital appearance …

In any case where the genitalia are ambiguous, a work-up to determine gender and the underlying cause of the ambiguity should begin immediately. These infants should be initally observed in the NICU so that any electrolyte abnormalities can be identified and treated rapidly, and appropriate specialists involved (e.g. endocrine, genetics, urology).

Nov 13, 2023 · The chapter offers a comprehensive overview of the evaluation and management of newborns with ambiguous genitalia. It emphasizes the importance of a structured medical assessment of the external genitalia to diagnose and determine the underlying cause of …

Ambiguous genitalia is when a baby's external genitalia do not look typically male or female or do not match the baby's expected gender based on chromosome information.

Sep 2, 2024 · Ambiguous genitalia, also called uncertain genitalia, atypical genitalia, ambiguous genitalia syndrome, or differences of sex development (DSD), is a condition present at birth.

Apr 1, 2021 · Neonates with ambiguous genitalia have various clinical presentations, etiologies, and outcomes, ranging from benign to life-threatening. This review provides a summary of these findings. Some diagnoses may lead to delayed sex assignment.

Feb 1, 2008 · Efficient and accurate evaluation of the newborn who has ambiguous genitalia is required to provide appropriate medical therapy and assuage parental anxiety. Genital ambiguity usually is due to virilization of genetic females or undervirilization of genetic males who …

Mar 1, 2016 · A thorough history, physical examination, and appropriate diagnostic testing are needed to identify the underlying etiology. An understanding of normal sexual development can help clinicians tailor their initial diagnostic evaluation for an infant with ambiguous genitalia.