Genetics May Contribute to Hypothalamic Amenorrhea

Genetic mutations found in women with gonadotropin-releasing hormone deficiency

THURSDAY, Jan. 20 (HealthDay News) -- Rare variants in genes associated with idiopathic hypogonadotropic hypogonadism are found in some women with functional hypothalamic amenorrhea, according to research published in the Jan. 20 issue of the New England Journal of Medicine.

Lisa M. Caronia, of the Massachusetts General Hospital in Boston, and colleagues investigated whether women's varying susceptibility to inhibition of the reproductive axis has a genetic predisposition. They analyzed the coding sequence of genes associated with idiopathic hypogonadotropic hypogonadism in 55 women with hypothalamic amenorrhea and 422 control women with normal menstrual cycles.

The researchers found six heterozygous mutations in seven of the women with hypothalamic amenorrhea. The affected genes, which play fundamental roles in gonadotropin-releasing hormone ontogeny and function, were found to have loss-of-function mutations. Several of the identified mutations had previously been associated with idiopathic hypogonadotropic hypogonadism. No mutations were identified in the control group. The researchers observed evidence of the role of rare variants in common multifactorial disease.

"We speculate that such heterozygous mutations, while not sufficient to cause idiopathic hypogonadotropic hypogonadism, could set a lower threshold for functional inhibition of the hypothalamic-pituitary-gonadal axis under adverse hormonal, nutritional, or psychological conditions and thereby lead to hypothalamic amenorrhea," the authors write.

One author disclosed financial relationships with Humana and Ferring Pharmaceuticals; another author disclosed a previous financial relationship with Novartis.

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