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. 2014 May;99(5):1608-14.
doi: 10.1210/jc.2013-3559. Epub 2014 Jan 17.

Anti-Müllerian hormone deficiency in females with Fanconi anemia

Martha M Sklavos  1 , Neelam Giri, Pamela Stratton, Blanche P Alter, Ligia A Pinto
Affiliations

Anti-Müllerian hormone deficiency in females with Fanconi anemia

Martha M Sklavos et al. J Clin Endocrinol Metab. 2014 May.

Abstract

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.

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Figures

Figure 1.
Figure 1.
AMH levels in all subjects stratified by age. A, All FA patients (n = 22). B, All FA relatives (n = 20). C, All unrelated healthy controls (n = 21). D, All pubertal and postpubertal subjects older than 10 years of age. Numbers include the following: FA patients, n = 15; FA relatives, n = 19; unrelated healthy controls, n = 21. Horizontal line within each boxplot represents the median AMH level. Upper and lower lines of the box represent the 25th and 75th percentiles. Significant differences (*, P < .001) were found between the median AMH level in FA patients compared with each of the control groups.
See this image and copyright information in PMC

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