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XX Male: Early Detection With Prenatal Testing
Ayah Ibrahim1, Jordyn Mullins1, Scott Cyrus1
1Pediatrics, Burrell College of Osteopathic Medicine, Las Cruces, USA.
Cureus
|December 19, 2023
Summary
SRY-positive 46,XX males, a variant of Klinefelter syndrome, present with a male phenotype despite an XX karyotype due to SRY gene translocation. Early diagnosis and intervention are crucial for managing symptoms and fertility.
Area of Science:
- Genetics
- Endocrinology
- Reproductive Medicine
Background:
- 46,XX males are a rare disorder of sex development (DSD) variant of Klinefelter syndrome (47,XXY).
- These individuals possess an XX karyotype but exhibit a male phenotype due to SRY gene translocation onto the X chromosome.
- This translocation leads to the development of male gonadal characteristics.
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