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[A neonate with ambiguous genitalia].

Burgo J Jansen1, Rick R van Rijn, A S P Paul van Trotsenburg

  • 1Academisch Medisch Centrum, Amsterdam.

Nederlands Tijdschrift Voor Geneeskunde
|July 23, 2015
PubMed
Summary

This case study highlights a neonate with ambiguous genitalia initially assigned female due to undervirilization. Subsequent phallic growth led to reassignment as male after confirming gonadal dysgenesis.

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Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Ambiguous genitalia in neonates presents diagnostic challenges.
  • Accurate sex assignment requires careful evaluation of genetic, hormonal, and anatomical factors.

Observation:

  • A neonate presented with a phallus, uterus, and vagina but no gonads.
  • Initial assessment suggested 46,XY gonadal dysgenesis, leading to female sex assignment.
  • A subsequent increase in phallus size prompted further investigation.

Findings:

  • Abdominal laparoscopy revealed an underdeveloped uterus.
  • Gonadal biopsy confirmed the diagnosis of gonadal dysgenesis.
  • The initial sex assignment was revised to male.

Implications:

  • This case underscores the importance of re-evaluating sex assignment in neonates with ambiguous genitalia.
  • Dynamic physical changes can necessitate a change in gender assignment.
  • Comprehensive diagnostic approaches are crucial for managing disorders of sex development.

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