ArticleJournal of medical case reports2025
IUGR ambiguous genitalia in Iran: a case report.
Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPericentric 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.
conclusionPericentric inversion of Chromosome 9 can result in ambiguous genitalia, emphasizing the importance of karyotyping in the diagnostic evaluation for proper management and counseling.
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