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

• Published in: Fertility and sterility Vol. 70; no. 1; pp. 89 - 93
• Main Authors: Devi, Anne S., Metzger, Deborah A., Luciano, Anthony A., Benn, Peter A.
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.07.1998; Elsevier Science
• Subjects: Adolescent; Adult; Aging - physiology; Aneuploidy; Biological and medical sciences; chromosome abnormalities; Female; Female genital diseases; Fluorescent Dyes; Gynecology. Andrology. Obstetrics; Humans; In Situ Hybridization; Karyotyping; Medical sciences; Menarche - physiology; Middle Aged; Mitosis; molecular cytogenetics; Mosaicism - genetics; Non tumoral diseases; Premature menopause; Primary Ovarian Insufficiency - genetics; X chromosome; X Chromosome - genetics; molecular cytogenetics; chromosome abnormalities; X chromosome; Premature menopause; Endocrinopathy; Chromosomal aberration; Human; Abnormal sex chromosome; Menopause; Sex chromosome; Female genital diseases; Ovarian diseases; Ovarian failure; Cytogenetics; Abnormal chromosome; Genetics; Female; Mosaicism; Early; X-Chromosome
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/S0015-0282(98)00122-8

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.