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[Dysgenetic male pseudohermaphroditism]
László Ságodi1, Janka Jakab, Akos Kiss
1Borsod-Abaúj-Zemplén Megyei Kórház és Egyetemi Oktató Kórház III. Csecsemő- és Gyermekosztály Miskolc. sagodilaszlo@gmail.com
Orvosi Hetilap
|February 15, 2012
Summary
This case study highlights dysgenetic male pseudohermaphroditism in an infant with a 45,X/46,XY mosaic karyotype. Early cytogenetic and hormonal evaluation is crucial for accurate diagnosis and management of such conditions.
Area of Science:
- Pediatric Endocrinology
- Clinical Genetics
- Reproductive Medicine
Background:
- Dysgenetic male pseudohermaphroditism (DMP) is a rare disorder of sexual development.
- Mosaic karyotypes, particularly 45,X/46,XY, are associated with significant gonadal dysgenesis and ambiguous genitalia.
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