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Sexual Developmental Disorders in Pediatrics

G Profeta1, G Micangeli1, F Tarani1

  • 1Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.

La Clinica Terapeutica
|September 26, 2022
PubMed

Insights

Disorders of Sex Development (DSD) require early identification and multidisciplinary care. Management has shifted towards watchful waiting, empowering patients in gender identity decisions.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Disorders of Sex Development (DSD) are a diverse group of conditions affecting sex determination and differentiation.
  • DSD impact approximately 1 in 4,500 newborns.
  • Classification categorizes DSD based on karyotype (46 XX, 46 XY) or sex chromosomes.

Purpose of the Study:

  • Highlight the critical need for early DSD diagnosis in newborns.
  • Emphasize the pediatrician's pivotal role in clinical identification and family support.
  • Outline the diagnostic and evolving therapeutic approaches for DSD.

Main Methods:

  • Multidisciplinary team approach is essential for diagnosis.
  • Diagnostic tools include genetic analysis, imaging, and laboratory evaluations.
  • Management strategies have evolved from early intervention to watchful waiting.

Main Results:

  • Accurate early diagnosis is crucial for optimal patient care pathways.
  • Pediatricians are central to both clinical management and family support.
  • Therapeutic approaches are shifting towards patient-centered gender identity affirmation.

Conclusions:

  • Early and accurate diagnosis of DSD is paramount.
  • A multidisciplinary approach integrating genetic, imaging, and lab evaluations is necessary.
  • The evolving management of DSD prioritizes patient autonomy and informed decision-making regarding gender identity.

Keywords:
Ambiguous genitaliadisorders of sex developmentgender assignmentgenetichormonal therapynewbornpediatriciansurgery

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