Last update 01 Nov 2024

Primary Ovarian Insufficiency

Basic Info

Synonyms
FMR1 Related Primary Ovarian Insufficiency, FMR1-Related Primary Ovarian Insufficiency, FRAGILE X PREMATURE OVARIAN FAILURE
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Introduction
Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene.

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