Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes.
Endocr Connect
; 13(9)2024 Sep 01.
Article
in En
| MEDLINE
| ID: mdl-39032500
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Endocr Connect
Year:
2024
Document type:
Article
Affiliation country:
Estados Unidos
Publication country:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM