Key result
Mulibrey nanism is associated with early depletion of the ovarian reserve, with 82% of patients having fewer than two visible antral follicles and 89% having undetectable AMH levels.
Observational (n=33)
Mulibrey nanism is associated with early depletion of ovarian follicles and premature ovarian insufficiency, highlighting TRIM37 as a gene associated with female gonadal failure.
May warrant fertility assessment in Mulibrey nanism; leaves open TRIM37 causality in broader POI populations.
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Karlberg et al. (2018) conducted an observational in Mulibrey nanism (MUL) (n=33). Mulibrey nanism (TRIM37 mutation) was evaluated on Ovarian reserve and gonadal function (antral follicle count and AMH levels). Mulibrey nanism is associated with early depletion of the ovarian reserve, with 82% of patients having fewer than two visible antral follicles and 89% having undetectable AMH levels.
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