Anti-Mullerian hormone deficiency in females with Fanconi anemia.

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

SUBMITTER: Sklavos MM 

PROVIDER: S-EPMC4010699 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature