47,XYY karyotype and normal SRY in a patient with a female phenotype

Authors
Benasayag, S Rittler, M Nieto, F de Aguirre, NT Reyes, M Copelli, S
Citation
S. Benasayag et al., 47,XYY karyotype and normal SRY in a patient with a female phenotype, J PED END M, 14(6), 2001, pp. 797-801
Citations number
18
Categorie Soggetti
Endocrinology, Nutrition & Metabolism
Journal title
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
ISSN journal
0334018X → ACNP
Volume
14
Issue
6
Year of publication
2001
Pages
797 - 801
Database
ISI
SICI code
0334-018X(200106)14:6<797:4KANSI>2.0.ZU;2-E
Abstract
A rare case of a female patient with a 47,XYY karyotype is described. She h ad normal female external genitalia, bilateral testes, rudimentary Fallopia n tubes and no uterus, Molecular analysis revealed a normal SRY encoding se quence. The possible events in the etiology of this sex reversal entity are discussed.