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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Shirvani, Mahsa Alipour, Marzyeh Mortajez, Ahmad Reza |
| Abstract | 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. |
| Related Links | https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-025-05214-1.pdf |
| Ending Page | 4 |
| Page Count | 4 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17521947 |
| DOI | 10.1186/s13256-025-05214-1 |
| Journal | Journal of Medical Case Reports |
| Issue Number | 1 |
| Volume Number | 19 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2025-04-10 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health General Practice Family Medicine Primary Care Medicine Surgical Oncology Internal Medicine Ambiguous genitalia Scrotum Micropenis Pericentric inversion Medicine/Public Health |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Medicine |
| Journal Impact Factor | 0.9/2023 |
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