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Gene Mutations Linked to Premature Ovarian Failure

NR5A1 mutations found in families with ovarian insufficiency, sex development disorders

WEDNESDAY, Feb. 25 (HealthDay News) -- Mutations in the NR5A1 gene may be a cause of ovarian insufficiency, according to research published online Feb. 25 in the New England Journal of Medicine.

Diana Lourenco, of the Institut Pasteur in Paris, France, and colleagues analyzed NR5A1-related data from four families with a history of 46,XY sex development disorders and 46,XX ovarian insufficiency, as well as 25 individuals with 46,XX sporadic ovarian insufficiency. The researchers then sought the NR5A1 mutations that were discovered in more than 1,400 appropriately matched controls.

The researchers found NR5A1 mutations in members of all four families and two of the subjects with isolated ovarian insufficiency. Four of the probands in the families, who were diagnosed with 46,XY sex development disorders, had familial mutations. In each of the families, another member with primary ovarian insufficiency also had the mutation. None of the subjects showed signs of adrenal dysfunction.

The NR5A1 protein is a transcriptional regulator of genes that plays a role in the hypothalamic-pituitary-steroidogenic axis, the authors note. "Our data suggest that mutated NR5A1 is associated with a progressive loss of ovarian reproductive capacity. A diagnostic genetic test could aid in counseling for the possibility of familial recurrence and in evaluation of prospects for treatment of primary ovarian insufficiency," they conclude.

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