Abstract | CONTEXT: OBJECTIVE: The objective of the study was to assess whether serum anti-Müllerian hormone (AMH) levels can serve as a cycle-independent marker for the diagnosis of POI in patients with FA. DESIGN AND SETTING: PARTICIPANTS: The study included 22 females with FA, 20 unaffected female relatives of patients with FA, and 21 unrelated healthy females under 41 years of age. MAIN OUTCOME MEASURE: Serum AMH, a marker of ovarian reserve, was measured in all participants. RESULTS: Females with FA had very low AMH levels (median 0.05 ng/mL; range 0-2.32 ng/mL; P < .001) when compared with unaffected relatives (median 2.10 ng/mL; range 0.04-4.73 ng/mL) and unrelated healthy females (median 1.92 ng/mL; range 0.31-6.64 ng/mL). All patients with FA older than 25 years of age were diagnosed with POI and had undetectable AMH levels. CONCLUSIONS: AMH deficiency appears to be a shared trait across this heterogeneous FA cohort. Substantially reduced AMH levels in females with FA suggest a primary ovarian defect associated with reduced fertility. Measurement of AMH at the time of FA diagnosis and subsequent monitoring of AMH levels at regular intervals may be useful for the timely management of complications related to POI such as subfertility/ infertility, osteoporosis, and menopausal symptoms.
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Authors | Martha M Sklavos, Neelam Giri, Pamela Stratton, Blanche P Alter, Ligia A Pinto |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 99
Issue 5
Pg. 1608-14
(May 2014)
ISSN: 1945-7197 [Electronic] United States |
PMID | 24438373
(Publication Type: Journal Article, Research Support, N.I.H., Extramural)
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Chemical References |
- Biomarkers
- Anti-Mullerian Hormone
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Topics |
- Adolescent
- Adult
- Anti-Mullerian Hormone
(blood)
- Biomarkers
(blood)
- Child
- Cross-Sectional Studies
- Fanconi Anemia
(blood)
- Female
- Humans
- Primary Ovarian Insufficiency
(blood, diagnosis)
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