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Observational Study
. 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

Martha M Sklavos  1 , Pamela Stratton, Neelam Giri, Blanche P Alter, Sharon A Savage, Ligia A Pinto
Affiliations
Observational Study

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

Martha M Sklavos et al. J Clin Endocrinol Metab. 2015 Feb.

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.

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Figures

Figure 1.
Figure 1.
Patients with DC have significantly lower levels of AMH A, AMH levels for all patients with DC (▴), unaffected relatives (□), and unrelated healthy volunteers (○) plotted continuously by age. B, AMH levels for DC patients, unaffected relatives, and healthy volunteers stratified by group. Horizontal lines represent median values and significance was defined as P < .05.
Figure 2.
Figure 2.
Patients with DBA show a trend for lower levels of AMH. A, AMH levels for all patients with DBA (▴), unaffected relatives (□), and unrelated healthy volunteers (○) plotted continuously by age. B, AMH levels for patients with DBA, unaffected relatives, and healthy volunteers stratified by group. Horizontal lines represent median values and significance was defined as P < .05. NS, not significant (P > .05).
Figure 3.
Figure 3.
AMH levels are significantly lower in females with FA compared with females with DC or DBA. A, AMH levels for all patients with FA (▴), DC (□), and DBA (○) plotted continuously by age. B, AMH levels for all patients stratified by disease. Horizontal lines represent median values and significance was defined as P < .05.
See this image and copyright information in PMC

References

    1. Sklavos MM, Giri N, Stratton P, Alter BP, Pinto LA. Anti-Mullerian hormone deficiency in females with fanconi anemia. J Clin Endocrinol Metab. 2014;99(5):1608–1614. - PMC - PubMed
    1. Giri N, Batista DL, Alter BP, Stratakis CA. Endocrine abnormalities in patients with Fanconi anemia. J Clin Endocrinol Metab. 2007;92(7):2624–2631. - PubMed
    1. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010;24(3):101–122. - PMC - PubMed
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    1. Alter BP, Giri N, Savage SA, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol. 2010;150(2):179–188. - PMC - PubMed

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