title: Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.
abstract: BACKGROUND
  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.
  
  
  METHODS
  This observational study used the National Cancer Institute's inherited bone marrow failure syndrome cohort at the National Institutes of Health Clinical Center.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
authors.affiliation: 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.
authors.forename: Martha M
authors.initials: MM
authors.lastname: Sklavos
authors.forename: Pamela
authors.initials: P
authors.lastname: Stratton
authors.forename: Neelam
authors.initials: N
authors.lastname: Giri
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
authors.forename: Ligia A
authors.initials: LA
authors.lastname: Pinto
mesh_terms: D000293:Adolescent; D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000097:blood*; D054304:Anti-Mullerian Hormone / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D019871:Dyskeratosis Congenita / Q000097:blood*; D005260:Female; D006801:Humans; D055815:Young Adult
chemical_list: D015415:Biomarkers; D054304:Anti-Mullerian Hormone