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Background <p>Pericentric inversion of Chromosome 9 is a common chromosomal abnormality, occasionally linked to clinical conditions such as ambiguous genitalia, warranting its inclusion in differential diagnoses. Sexual ambiguity is a tragic and highly distressing condition that imposes deep emotional and spiritual concerns on the family. Therefore, it is essential to adopt a rational and immediate approach, including clinical, hormonal, genetic, molecular, and radiographic investigations, to determine its cause and guide the therapeutic strategy.</p> Case presentation <p>A 35-year-old gravida 1 Iranian woman at 37&#xa0;weeks of pregnancy delivered a 1900-g newborn via cesarean section due to intrauterine growth restriction. The newborn exhibited ambiguous genitalia, including severe hypospadias and a micropenis. Karyotyping revealed a normal chromosomal count with a pericentric inversion of Chromosome 9 (46XY, inv (9) (p12q13)). Hormonal and ultrasound evaluations were normal, and no family history of sexual development disorders was noted.</p> Conclusion <p>Pericentric inversion of Chromosome 9 can result in ambiguous genitalia, emphasizing the importance of karyotyping in the diagnostic evaluation for proper management and counseling.</p>

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IUGR ambiguous genitalia in Iran: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月10日

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  • Mahsa Shirvani,
  • Marzyeh Alipour,
  • Ahmad Reza Mortajez

摘要

Background

Pericentric inversion of Chromosome 9 is a common chromosomal abnormality, occasionally linked to clinical conditions such as ambiguous genitalia, warranting its inclusion in differential diagnoses. Sexual ambiguity is a tragic and highly distressing condition that imposes deep emotional and spiritual concerns on the family. Therefore, it is essential to adopt a rational and immediate approach, including clinical, hormonal, genetic, molecular, and radiographic investigations, to determine its cause and guide the therapeutic strategy.

Case presentation

A 35-year-old gravida 1 Iranian woman at 37 weeks of pregnancy delivered a 1900-g newborn via cesarean section due to intrauterine growth restriction. The newborn exhibited ambiguous genitalia, including severe hypospadias and a micropenis. Karyotyping revealed a normal chromosomal count with a pericentric inversion of Chromosome 9 (46XY, inv (9) (p12q13)). Hormonal and ultrasound evaluations were normal, and no family history of sexual development disorders was noted.

Conclusion

Pericentric inversion of Chromosome 9 can result in ambiguous genitalia, emphasizing the importance of karyotyping in the diagnostic evaluation for proper management and counseling.