CONTEXT: In females with Fanconi anemia (FA), infertility is often accompanied 
by diminished ovarian reserve and hypergonadotropic amenorrhea before the age of 
30 years, suggesting primary ovarian insufficiency (POI). POI is typically 
diagnosed only after perimenopausal symptoms are observed.
OBJECTIVE: The objective of the study was to assess whether serum anti-Müllerian 
hormone (AMH) levels can serve as a cycle-independent marker for the diagnosis 
of POI in patients with FA.
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 22 females with FA, 20 unaffected female 
relatives of patients with FA, and 21 unrelated healthy females under 41 years 
of age.
MAIN OUTCOME MEASURE: Serum AMH, a marker of ovarian reserve, was measured in 
all participants.
RESULTS: Females with FA had very low AMH levels (median 0.05 ng/mL; range 
0-2.32 ng/mL; P < .001) when compared with unaffected relatives (median 2.10 
ng/mL; range 0.04-4.73 ng/mL) and unrelated healthy females (median 1.92 ng/mL; 
range 0.31-6.64 ng/mL). All patients with FA older than 25 years of age were 
diagnosed with POI and had undetectable AMH levels.
CONCLUSIONS: AMH deficiency appears to be a shared trait across this 
heterogeneous FA cohort. Substantially reduced AMH levels in females with FA 
suggest a primary ovarian defect associated with reduced fertility. Measurement 
of AMH at the time of FA diagnosis and subsequent monitoring of AMH levels at 
regular intervals may be useful for the timely management of complications 
related to POI such as subfertility/infertility, osteoporosis, and menopausal 
symptoms.