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IUGR ambiguous genitalia in Iran: a case report
Mahsa Shirvani1, Marzyeh Alipour2, Ahmad Reza Mortajez3
1Department of Midwifery, Obstetrics and Gynecology, Vali-e-Asr Hospital, Kazerun, Iran.
Journal of Medical Case Reports
|April 11, 2025
Summary
Pericentric inversion of chromosome 9, a common genetic finding, can lead to ambiguous genitalia in newborns. Early karyotyping is crucial for diagnosing this condition and guiding appropriate management and family counseling.
Area of Science:
- Genetics
- Reproductive Medicine
- Pediatrics
Background:
- Pericentric inversion of chromosome 9 is a frequent chromosomal abnormality.
- It is occasionally associated with clinical conditions like ambiguous genitalia.
- Ambiguous genitalia presents significant emotional and spiritual challenges for families, necessitating prompt investigation.
Purpose of the Study:
- To investigate the link between pericentric inversion of chromosome 9 and ambiguous genitalia.
- To highlight the importance of genetic evaluation in cases of sexual ambiguity.
Main Methods:
- A case report of a newborn with ambiguous genitalia (hypospadias, micropenis).
- Karyotyping revealed a 46XY, inv(9)(p12q13) karyotype.
- Hormonal and ultrasound evaluations were normal; no family history of sexual development disorders.
Main Results:
- The newborn presented with ambiguous genitalia.
- Karyotyping identified a pericentric inversion of chromosome 9.
- Normal hormonal and ultrasound findings in the absence of a family history.
Conclusions:
- Pericentric inversion of chromosome 9 is a potential cause of ambiguous genitalia.
- Karyotyping is essential for diagnosing this condition.
- Accurate diagnosis facilitates proper management and counseling for affected families.
