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[Clinical and genetic study of a 46, XX man with occult mosaicism ].
Arch Esp Urol. 2002 Oct; 55(8):952-4.AE

Abstract

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.

Authors+Show Affiliations

Unidad de Endocrinología, Hospital San Agustín, Avilés, Asturias, España. cmacb@arrakis.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

12455288

Citation

Maciá Bobes, Carmen, et al. "[Clinical and Genetic Study of a 46, XX Man With Occult Mosaicism ]." Archivos Espanoles De Urologia, vol. 55, no. 8, 2002, pp. 952-4.
Maciá Bobes C, Alonso Troncoso I, Botas Cervero P, et al. [Clinical and genetic study of a 46, XX man with occult mosaicism ]. Arch Esp Urol. 2002;55(8):952-4.
Maciá Bobes, C., Alonso Troncoso, I., Botas Cervero, P., Castaño Fernández, G., & Fau Cubero, C. (2002). [Clinical and genetic study of a 46, XX man with occult mosaicism ]. Archivos Espanoles De Urologia, 55(8), 952-4.
Maciá Bobes C, et al. [Clinical and Genetic Study of a 46, XX Man With Occult Mosaicism ]. Arch Esp Urol. 2002;55(8):952-4. PubMed PMID: 12455288.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical and genetic study of a 46, XX man with occult mosaicism ]. AU - Maciá Bobes,Carmen, AU - Alonso Troncoso,Isabel, AU - Botas Cervero,Patricia, AU - Castaño Fernández,Gloria, AU - Fau Cubero,Carmen, PY - 2002/11/29/pubmed PY - 2003/1/14/medline PY - 2002/11/29/entrez SP - 952 EP - 4 JF - Archivos espanoles de urologia JO - Arch. Esp. Urol. VL - 55 IS - 8 N2 - 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. SN - 0004-0614 UR - https://www.unboundmedicine.com/medline/citation/12455288/[Clinical_and_genetic_study_of_a_46_XX_man_with_occult_mosaicism_]_ L2 - http://www.aeurologia.com/articulo_prod.php?id_art=5533334021542 DB - PRIME DP - Unbound Medicine ER -