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Updated: Sep 10, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
[Clinical and genetic study of a 46, XX man with occult mosaicism ]
Carmen Maciá Bobes1, Isabel Alonso Troncoso, Patricia Botas Cervero
1Unidad de Endocrinología, Hospital San Agustín, Avilés, Asturias, España. cmacb@arrakis.es
Objective:
To describe a 46,XX male with a hidden mosaicism.
Method:
Clinical, hormonal and genetic findings are presented.
Results:
The patient was a normal phenotypic male with a bilateral testicular volume of 10 ml. Hypergonadotropic hypogonadism (elevated serum concentrations of FSH and LH, and normal serum concentration of testosterone) without gynecomastia was found. Final karyotype was a 46,XX/47,XX + mar mosaic, with 3% of studied cells containing an abnormal SRY positive Y chromosome.
Conclusion:
XX males karyotype must include a great number of metaphases in order to ascertain a definitive genetic diagnosis.
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