Caring for newborns with atypical genitalia presents significant challenges. With advancements in prenatal imaging and genetic testing, differences of sex development (DSD) diagnoses are increasingly made before birth through ultrasound and genetic testing, offering opportunities to optimally prepare parents for the birth of their child. Although guidelines recommend management in a specialized DSD center, most newborns who have a DSD are born in settings without immediate access to such expertise. Consequently, local healthcare professionals play a crucial role in the initial assessment, communication, and parental support. This document provides a structured approach to conduct a comprehensive physical examination, evaluate the external genitalia, and initiate appropriate biochemical, hormonal and genetic investigations. Clear, neutral, and supportive language is essential when communicating with parents and has been shown to improve outcomes. Conclusion: A structured clinical approach, early consultation with an expert DSD team, and clear, compassionate communication with the parents are key for the initial management of babies born with a DSD and their parents.<Table Float="No" ID="Taba"> <tgroup cols="2"> <colspec align="left" colname="c1" colnum="1" /> <colspec align="left" colname="c2" colnum="2" /> <tbody> <row> <entry nameend="c2" namest="c1"> What is known: • Differences in sex development (DSD) are rare, complex congenital conditions that often present with atypical genitalia in newborns, requiring early specialized care from a multidisciplinary team. • International and regional guidelines have been developed for the multidisciplinary management of DSD to improve the quality of care. </entry> </row> <row> <entry nameend="c2" namest="c1"> What is new: • This article offers practical and structured guidance for pediatricians on the initial management of newborns suspected of having Disorders of Sex Development (DSD), both before and after birth. • It emphasizes the significance of a systematic clinical approach, early consultation with experts, and effective communication with parents. </entry> </row> </tbody> </tgroup> </Table>

Role of the pediatrician in the initial management of a newborn with Differences of Sex Development or hypospadias

期刊论文
发表日期：

2025年4月22日

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Saskia van der Straaten,
Hannes Syryn,
Arianne Dessens,
Martine Cools,
Lloyd Tack

摘要

Caring for newborns with atypical genitalia presents significant challenges. With advancements in prenatal imaging and genetic testing, differences of sex development (DSD) diagnoses are increasingly made before birth through ultrasound and genetic testing, offering opportunities to optimally prepare parents for the birth of their child. Although guidelines recommend management in a specialized DSD center, most newborns who have a DSD are born in settings without immediate access to such expertise. Consequently, local healthcare professionals play a crucial role in the initial assessment, communication, and parental support. This document provides a structured approach to conduct a comprehensive physical examination, evaluate the external genitalia, and initiate appropriate biochemical, hormonal and genetic investigations. Clear, neutral, and supportive language is essential when communicating with parents and has been shown to improve outcomes. Conclusion: A structured clinical approach, early consultation with an expert DSD team, and clear, compassionate communication with the parents are key for the initial management of babies born with a DSD and their parents.

What is known:

• Differences in sex development (DSD) are rare, complex congenital conditions that often present with atypical genitalia in newborns, requiring early specialized care from a multidisciplinary team.

• International and regional guidelines have been developed for the multidisciplinary management of DSD to improve the quality of care.

What is new:

• This article offers practical and structured guidance for pediatricians on the initial management of newborns suspected of having Disorders of Sex Development (DSD), both before and after birth.

• It emphasizes the significance of a systematic clinical approach, early consultation with experts, and effective communication with parents.