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J Clin Endocrinol Metab. 2015 Feb;100(2):E197-203. doi: 10.1210/jc.2014-2838. Epub 2014 Nov 18.

Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.

Author information

1
Human Papillomavirus Immunology Laboratory (M.M.S., L.A.P.), Leidos Biomedical Research, Incorporated, Frederick National Laboratory for Cancer Research, Frederick, Maryland 21702; Program in Reproductive and Adult Endocrinology (P.S.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; and Clinical Genetics Branch (N.G., B.P.A., S.A.S.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20852.

Abstract

CONTEXT:

Previously, reduced levels of anti-Müllerian hormone (AMH), a circulating marker of ovarian reserve, were found in females with Fanconi anemia (FA). FA, dyskeratosis congenita (DC), and Diamond-Blackfan anemia (DBA) are inherited bone marrow failure syndromes (IBMFS) associated with high risks of bone marrow failure, leukemia, and solid tumors.

OBJECTIVE:

The objective of the study was to assess AMH levels in females with DC or DBA.

DESIGN AND SETTING:

This observational study used the National Cancer Institute's inherited bone marrow failure syndrome cohort at the National Institutes of Health Clinical Center.

PARTICIPANTS:

The study included females with DC, unaffected female relatives of patients with DC, females with DBA, unaffected female relatives of patients with DBA, and unrelated healthy female volunteers younger than 41 years of age.

MAIN OUTCOME MEASURE:

Serum AMH levels were measured.

RESULTS:

Females with DC had significantly lower levels of AMH (median 0.55 ng/mL) compared with unaffected relatives (median 2.28 ng/mL, P = .004) or unrelated healthy volunteers (median 2.69 ng/mL, P = .005). Females with DBA showed a nonsignificant trend for lower levels of AMH (median 0.89 ng/mL) compared with unaffected relatives (median 1.71 ng/mL, P = .21) or unrelated healthy volunteers (P = .11). Patients with DC and DBA had significantly higher levels of AMH (P = .013, P = .003) compared with FA (median 0.05 ng/mL).

CONCLUSIONS:

Our findings suggest that women with IBMFS have lower levels of AMH than unaffected women. This AMH deficiency could be a primary ovarian defect or a consequence of the pathophysiology of the syndromes. Additional studies of AMH and ovarian function in women with IBMFS are warranted to better understand the underlying biology.

TRIAL REGISTRATION:

ClinicalTrials.gov NCT00027274.

PMID:
25405500
PMCID:
PMC4318906
DOI:
10.1210/jc.2014-2838
[Indexed for MEDLINE]
Free PMC Article

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