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Fertil Steril. 1998 Jul;70(1):89-93.

45,X/46,XX mosaicism in patients with idiopathic premature ovarian failure.

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  • 1Department of Obstetrics and Gynecology, University of Connecticut Health Center, Farmington 06030-6140, USA.

Abstract

OBJECTIVE:

To determine whether low-level 45,X/46,XX mosaicism may be present in some women with premature ovarian failure (POF).

DESIGN:

Slide preparations were made from lymphocyte cultures stimulated with phytohemagglutinin, and fluorescence in situ hybridization (FISH) was then performed using a biotin-labeled X-chromosome probe.

SETTING:

Cytogenetics laboratory.

PATIENT(S):

Fifteen women with idiopathic POF, 20 age-matched controls, and an additional 10 older control women with normal reproductive histories.

INTERVENTION(S):

Blood samples were collected.

MAIN OUTCOME MEASURE(S):

The number of X chromosomes present in each cell.

RESULT(S):

In patients with POF, the percentage of cells with a single X chromosome (mean, 5.50) was significantly greater than in the controls of similar age (mean, 2.42). For control subjects, there appeared to be a linear correlation between the number of cells with a single X chromosome and age.

CONCLUSION(S):

Some cases of POF may be attributable to low-level 45,X/46,XX mosaicism, which can be detected using FISH. In the lymphocytes from normal women, the rate of accumulation of cells with a single X chromosome was approximately 700 per 10(6) cells per year.

PMID:
9660427
[PubMed - indexed for MEDLINE]
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