Reduced Anti-Müllerian Hormone Levels in Males with Inherited Bone Marrow Failure Syndromes

Abstract Purpose Fanconi Anemia (FA), dyskeratosis congenita/telomere biology disorders (DC/TBD), and Diamond-Blackfan anemia (DBA) are inherited bone marrow failure syndromes (IBMFS) with high risks of bone marrow failure, leukemia, and solid tumors. Anti-Müllerian hormone (AMH), a circulating marker of ovarian reserve in females, may be a direct marker of Sertoli cell function and an indirect marker of spermatogenesis in males. Previously, reduced levels of AMH were found in females with these syndromes. Methods We assessed serum AMH levels in pubertal and post-pubertal males with FA, DC/TBD or DBA compared with their unaffected male relatives and unrelated healthy male volunteers participating in an observational study of the National Cancer Institute’s IBMFS cohort at the National Institutes of Health Clinical Center. Results Males with FA had significantly lower levels of AMH (median 5 ng/mL) compared with unaffected male relatives (median 7.31 ng/mL, P = 0.03) or healthy male volunteers (median 7.66 ng/mL, P = 0.008). Males with DC/TBD had lower levels of AMH (median 3.76 ng/mL) compared with unaffected relatives (median 5.31 ng/mL, P = 0.01) or healthy volunteers (median 5.995 ng/mL, P < 0.001). Males with DBA had similar levels of AMH (median 3.46 ng/mL) as unaffected relatives (median 4.66 ng/mL, P = 0.56), and healthy volunteers (median 5.81 ng/mL, P = 0.10). Conclusion Our findings suggest a defect in the production of AMH in post-pubertal males with FA and DC/TBD, similar to that observed in females.