Abstract | OBJECTIVE: The frequency of gonadoblastoma is high in patients with Turner's syndrome bearing cells with Y or partial Y-chromosome. About 60% of patients with Turner's syndrome have a 45,X karyotype. In 30% of them a Y-sequence is disclosed by DNA analysis. To identify patients at risk of developing gonadoblastoma, a PCR based assay with SRY, ZFY and DYZ3 specific primers was carried out to detect different Y-sequences in the DNA of peripheral lymphocytes from patients with Turner's syndrome. DESIGN AND PATIENTS: Peripheral blood karyotypes from 36 patients with Turner's syndrome were studied. Patients with proven Y-chromosomal material were excluded. Genomic DNA was extracted from peripheral blood. SRY and ZFY genes and DYZ3 repetion of Y-chromosome were amplified by PCR. Patients with clinical signs of hyperandrogenism or with positive Y-sequences by PCR underwent gonadectomy. The gonadal tissues were examined for Y-sequences using PCR, morphology and immunohistochemical study. MEASUREMENTS: RESULTS: Two patients who had Y-positive blood samples and three hyperandrogenic (2 hirsutes, 1 virilized) Y-negatives underwent gonadectomy. PCR was carried out on their gonadal tissue. The tissue from the two patients without hyperandrogenism was Y-positive. The gonadal tissue from the three hyperandrogenics was Y-negative. Gonadal morphology disclosed hilus cell hyperplasia in the 3 hyperandrogenic Y-negatives and in one Y-positive patient; stromal luteoma and hyperthecosis in the virilized patient, cystadenofibroma in one hirsute patient and gonadoblastoma in one Y-positive. Testosterone was detected immunohistochemically in the hilus cell hyperplasia, stromal luteoma and hyperthecosis found in the hyperandrogenic patients. CONCLUSIONS: The molecular study was sensitive and useful in the evaluation of patients at risk of developing gonadoblastoma. Other nontumour, gonadotrophin-dependent and Y-independent mechanisms which deserve the same medical approach may be involved in the genesis of hyperandrogenic signs in Turner's syndrome.
|
Authors | J R Mendes, M W Strufaldi, R Delcelo, R C Moisés, J G Vieira, T S Kasamatsu, M F Galera, J A Andrade, I T Verreschi |
Journal | Clinical endocrinology
(Clin Endocrinol (Oxf))
Vol. 50
Issue 1
Pg. 19-26
(Jan 1999)
ISSN: 0300-0664 [Print] England |
PMID | 10341852
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
|
Topics |
- Adolescent
- Adult
- Child
- Electrophoresis, Agar Gel
- Female
- Genetic Markers
- Gonadoblastoma
(genetics)
- Humans
- Karyotyping
- Ovarian Neoplasms
(genetics)
- Ovariectomy
- Ovary
(pathology)
- Polymerase Chain Reaction
- Turner Syndrome
(genetics, pathology, surgery)
- Virilism
(genetics, surgery)
- Y Chromosome
|