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Author Gustin, Stephanie L. F. ♦ Ding, Victoria Y. ♦ Desai, Manisha ♦ Leader, Benjamin ♦ Baker, Valerie L.
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Springer
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Chemistry & allied sciences ♦ Life sciences; biology ♦ Physiology & related subjects ♦ Biochemistry ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human physiology ♦ Pharmacology and therapeutics ♦ Diseases ♦ Gynecology, obstetrics, pediatrics & geriatrics ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Eukaryota ♦ Organisms ♦ Hormones, Hormone Substitutes, and Hormone Antagonists ♦ Amino Acids, Peptides, and Proteins ♦ Chemicals and Drugs ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Chemical Phenomena ♦ Reproductive and Urinary Physiological Phenomena ♦ Biological Sciences ♦ Persons ♦ Persons
Subject Keyword Discipline Reproductive Medicine ♦ Discipline Genectics ♦ Anti-mullerian Hormone ♦ Blood ♦ Fragile X Mental Retardation Protein ♦ Genetics ♦ Ovarian Reserve ♦ Trinucleotide Repeats ♦ Adolescent ♦ Adult ♦ Female ♦ Humans ♦ Maternal Age ♦ Middle Aged ♦ Multivariate Analysis ♦ Young Adult ♦ Journal Article ♦ Research Support, N.i.h., Extramural
Abstract PURPOSE: The objective of this analysis is to examine the relationship between Fragile X Mental Retardation 1 gene (FMR1) cytosine-guanine-guanine (CGG) repeat number and ovarian reserve, with a particular focus exclusively on the range of CGG repeat number below the premutation (PM) range (<55 CGG repeats). METHODS: Our study included female patients who underwent assessment of FMR1 CGG repeat number and serum anti-Mullerian hormone (AMH) in 2009-2014. To examine the association between FMR1 repeat number and serum AMH, we created three summary measures of CGG repeat number for the two alleles-'Sum,' 'Max,' and 'Gap' (absolute difference). Using multivariable regression models, controlling for age, we then analyzed the impact of these summary measures on AMH. RESULTS: A total of 566 patients were included in our study. Using multivariable regression models, we found that the relationship between CGG repeat number and AMH differed depending on age. Specifically, in younger women, AMH increased by 7-8 % (Sum p < 0.01, Max p = 0.04) for every 1 unit increase in CGG repeat number. In contrast, starting at age 40, there was a 3 to 5 % decline in AMH for every 1 unit increase in CGG repeat number (Sum p < 0.01, Max p = 0.04). CONCLUSIONS: This is the first study to report a statistically significant correlation of ovarian reserve and CGG repeat number in women with <55 CGG repeats. Although these women are generally considered to have a normal phenotype, our data suggest that increasing CGG repeat number within this normal range is associated with a more rapid decline in ovarian reserve.
Description Country affiliation: United States
Author Affiliation: Gustin SL ( Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, 900 Welch Road, Suite 20, Palo Alto, CA, 94034, USA. sfisher@stanford.edu.); Ding VY ( Quantitative Sciences Unit, Center for Biomedical Informatics Research, Stanford University School of Medicine, 1070 Arastradero Road, Palo Alto, CA, 94304, USA.); Desai M ( Quantitative Sciences Unit, Center for Biomedical Informatics Research, Stanford University School of Medicine, 1070 Arastradero Road, Palo Alto, CA, 94304, USA.); Leader B ( Clinical Research Division, ReproSource, Inc, 300 Tradecenter, Suite 6540, Woburn, MA, 01801, USA.); Baker VL ( Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, 900 Welch Road, Suite 20, Palo Alto, CA, 94034, USA.)
ISSN 10580468
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article
Publisher Date 2015-11-01
Publisher Place Netherlands
e-ISSN 15737330
Journal Journal of Assisted Reproduction and Genetics
Volume Number 32
Issue Number 11


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Source: WHO-Global Index Medicus