NEW YORK (Reuters Health) - Women who are carriers of the fragile X syndrome premutation are at high risk for premature ovarian failure. Now researchers have discovered that these women experience early ovarian aging, even in the presence of regular menstrual cycles.
Dr. C.K. Welt of the Massachusetts General Hospital in Boston, Massachusetts, and colleagues, conducted a study in which 11 fragile X premutation carriers with regular cycles provided daily blood samples across a single menstrual cycle. Cycle characteristics and hormone levels in these women, who ranged in age from 24 to 41 years, were compared with those in age-matched controls.
In the September issue of the Journal of Clinical Endocrinology and Metabolism, the researchers report that total cycle and follicular phase length were decreased in the premutation carriers. Luteal phase length was similar in the two groups, but follicle stimulating hormone level was elevated across the follicular and luteal phases in the study subjects.
Furthermore, while there was no difference in estradiol or luteinizing hormone levels between the groups, the premutation carriers had decreased levels of inhibin B in the follicular phase and inhibin A in the luteal phase.
“These hormonal changes suggest that fragile X premutation carriers exhibit early ovarian aging despite regular menstrual cycles,” the investigators report.
The authors caution that the fragile X syndrome is one of the most common causes of mental retardation. In addition to the clinical implications of their data for fragile X premutation carriers, their findings indicate that “carriers should have both genetic and fertility counseling before attempting to conceive.”
“Finally,” the authors conclude, “the large number of fragile X premutation carriers with elevated follicle hormone stimulating levels and a history of infertility suggest that the prevalence of fragile X premutations should be assessed in infertility patients with high follicle stimulating hormone levels, particularly give the potential outcome of the pregnancies achieved.”
Source: J Clin Endocrinol Metab 2004;89:4569-4574. [ Google search on this article ]
MeSH Headings:Diagnosis: Diagnostic Techniques, Endocrine: Diagnostic Techniques, Obstetrical and Gynecological: Fertility Agents: Fertility Agents, Female: Ovarian Function Tests: Reproductive Control Agents: Diagnostic Techniques and Procedures: Chemical Actions and Uses: Chemical Actions: Analytical, Diagnostic and Therapeutic Techniques and Equipment: Chemicals and DrugsCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
