Primary amenorrhea

Disease

2 papers1 finding

  • Humans2

Associations

1

Autosomal recessive variants

upin humans1

1 study
  1. autosomal recessive variants are associated with primary amenorrhea in humans.

    “Autosomal recessive variants were enriched among women with primary amenorrhea”

    Humansprimary ovarian insufficiency without an identified causefemalesn = 68

    Genetic patterns varied with menstrual history in Utah women

    Journal of the Endocrine SocietyOct 10, 2026

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Journal of the Endocrine Society

Genetic patterns varied with menstrual history in Utah women

Among 899 women with primary ovarian insufficiency, 32.1% had Turner syndrome, a condition involving a missing or incomplete X chromosome.Among 899 women with primary ovarian insufficiency, 32.1% had Turner syndrome, a condition involving a missing or incomplete X chromosome.

Genetic association · 68 peoplePopulations