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Approach to the Infant with a Suspected Disorder of Sex Development

Diane K Wherrett1

  • 1Division of Endocrinology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

Pediatric Clinics of North America
|July 27, 2015
PubMed

Insights

Diagnosing genital ambiguity in newborns is crucial for timely gender assignment and requires efficient evaluation. Families need support, and infants should be managed by a multidisciplinary team specializing in disorders of sex development.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Neonatology

Background:

  • Genital ambiguity in newborns presents complex diagnostic and management challenges.
  • Early and accurate diagnosis is essential for appropriate gender assignment and long-term outcomes.

Purpose of the Study:

  • To outline an efficient diagnostic approach for newborns with genital ambiguity.
  • To emphasize the importance of timely gender assignment and psychosocial support for affected families.

Main Methods:

  • Review of current diagnostic protocols for disorders of sex development (DSD).
  • Emphasis on a systematic, multidisciplinary team approach.

Main Results:

  • An efficient diagnostic pathway can expedite the identification of the etiology of genital ambiguity.
  • Multidisciplinary team involvement ensures comprehensive care, including psychosocial support.

Conclusions:

  • Prompt evaluation and management by a specialized team are critical for infants with genital ambiguity.
  • Addressing the psychosocial needs of the family is integral to the care of these infants.

Keywords:
Androgen insensitivity syndromeCongenital adrenal hyperplasiaDisorders of sex developmentFamily supportGender assignmentGenital ambiguitySexual differentiation

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