范可尼贫血(FA),先天性角化异常相关端粒生物学障碍(DC/TBD),Diamond-Blackfan贫血(DBA)是遗传性骨髓衰竭综合征(IBMFS),具有很高的骨髓衰竭风险,白血病,和实体瘤。有FA的人生育率下降。以前,我们显示了低水平的抗苗勒管激素(AMH),卵巢储备的循环标志物,在IBMFS的女性中。在男性中,AMH可能是支持细胞功能的直接标记和精子发生的间接标记。在这项研究中,我们评估了青春期和青春期后男性FA的血清AMH水平,DC/TBD或DBA,并将其与未受影响的男性亲属和无关的健康男性志愿者进行比较。患有FA的男性的AMH水平显着降低(中位数为5ng/mL,范围:1.18-6.75)与未受影响的男性亲属(中位数7.31ng/mL,范围:3.46-18.82,P=0.03)或健康男性志愿者(中位数7.66ng/mL,范围:3.3-14.67,P=0.008)。患有DC/TBD的男性AMH水平较低(中位数为3.76ng/mL,范围:0-8.9)与未受影响的亲属相比(中位数5.31ng/mL,范围:1.2-17.77,P=0.01)或健康志愿者(中位数5.995ng/mL,范围:1.57-14.67,P<0.001)。有DBA的男性有相似的AMH水平(中位数3.46ng/mL,范围:2.32-11.85)作为未受影响的亲属(中位数4.66ng/mL,范围:0.09-13.51,P=0.56)和健康志愿者(中位数5.81ng/mL,范围:1.57-14.67,P=0.10)。我们的研究结果表明,青春期后男性FA和DC/TBD的AMH产生存在缺陷,与在女性中观察到的相似。这些发现值得在更大的前瞻性研究中得到证实。
Fanconi anemia (FA), dyskeratosis congenita-related 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. Individuals with FA have reduced fertility. Previously, we showed low levels of anti-Müllerian hormone (AMH), a circulating marker of ovarian reserve, in females with IBMFS. In males, AMH may be a direct marker of Sertoli cell function and an indirect marker of spermatogenesis. In this study, we assessed serum AMH levels in pubertal and postpubertal males with FA, DC/TBD, or DBA and compared this with their unaffected male relatives and unrelated healthy male volunteers. Males with FA had significantly lower levels of AMH (median: 5 ng/mL, range: 1.18-6.75) compared with unaffected male relatives (median: 7.31 ng/mL, range: 3.46-18.82, P = 0.03) or healthy male volunteers (median: 7.66 ng/mL, range: 3.3-14.67, P = 0.008). Males with DC/TBD had lower levels of AMH (median: 3.76 ng/mL, range: 0-8.9) compared with unaffected relatives (median: 5.31 ng/mL, range: 1.2-17.77, P = 0.01) or healthy volunteers (median: 5.995 ng/mL, range: 1.57-14.67, P < 0.001). Males with DBA had similar levels of AMH (median: 3.46 ng/mL, range: 2.32-11.85) as unaffected relatives (median: 4.66 ng/mL, range: 0.09-13.51, P = 0.56) and healthy volunteers (median: 5.81 ng/mL, range: 1.57-14.67, P = 0.10). Our findings suggest a defect in the production of AMH in postpubertal males with FA and DC/TBD, similar to that observed in females. These findings warrant confirmation in larger prospective studies.