Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases.
OBJECTIVE
To determine the clinical implications of the presence of a Y chromosome in Turner's syndrome patients with karyotype abnormalities.


METHODS
To investigate the presence of Y-chromosome sequences in different tissue samples.


METHODS
Endocrinology outpatient clinic of a federal university in Brazil.


METHODS
Five Turner's syndrome patients with karyotype abnormalities such as marker chromosomes, additional material, or ring chromosomes.


METHODS
Peripheral blood, oral epithelial cells, and hair root samples were collected.


METHODS
The SRY gene and the DYZ3 repeat region were amplified by polymerase chain reaction followed by gel electrophoresis mobility of amplified genomic DNA, and ultraviolet visualization. Prophylactic gonadectomy was offered to the Y-positive patients.


RESULTS
The analysis of the different tissues revealed that three of the five patients studied presented Y-chromosome mosaicism. These three patients underwent prophylactic gonadectomy, and in one of them, the histopathologic study of the gonads disclosed hilus cell hyperplasia and stromal luteoma with contralateral nodular hyperthecosis.


CONCLUSIONS
A systematic search for Y-chromosome mosaicism in Turner's syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions.
Bianco
Bianca
B
Department of Medicine, Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.
Nunes Lipay
Mônica Vannucci
MV
Guedes
Alexis Dourado
AD
Verreschi
Ieda T N
IT
D000293:Adolescent; D000328:Adult; D041322:Chromosomes, Human, Y / Q000235:genetics*; D050174:Genetic Diseases, Y-Linked / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008875:Middle Aged; D009030:Mosaicism; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics*