Journal Article

Mutations in NR5A1 Associated with Ovarian Insufficiency

Muresan, Mihaela, Boudjenah, Radia, Lin, Lin, Maciel-Guerra, Andréa T, De Perdigo, Arantzazu, McElreavey, Ken, Lourenço, Diana, Brauner, Raja, Weryha, Georges, Guerra-Junior, Gil, Achermann, John C, Bashamboo, Anu

2009

Overview

Mutations in NR5A1, a gene that encodes a nuclear receptor that activates genes involved in the hypothalamic–pituitary–steroidogenic axis, are associated with primary ovarian insufficiency. Mutations in NR5A1, a gene that encodes a nuclear receptor that activates genes involved in the hypothalamic–pituitary–steroidogenic axis, are associated with primary ovarian insufficiency. Primary ovarian insufficiency, also termed premature ovarian failure, is a condition characterized by the arrest of normal ovarian function before the age of 40 years. The disorder occurs in 1% of all women. 1 , 2 Although causes such as autoimmunity, monosomy X, and environmental factors play a role in primary ovarian insufficiency, the cause of the majority of cases remains unknown. 1 – 3 A genetic basis for ovarian insufficiency is supported by the observation that a substantial minority of cases are familial 4 and that the prevalence of the condition varies according to ancestral origin. 5 The identification of genetic causes of ovarian insufficiency . . .

• Publisher: Massachusetts Medical Society
• Subject: Adolescent / Adrenal glands / Amenorrhea - genetics / Amino Acid Sequence / Animals / Biological and medical sciences / Child / Female / General aspects / Genotype / Gonadal Dysgenesis, 46,XY - genetics / Gonadal Dysgenesis, 46,XY - pathology / Humans / Infant, Newborn / Male / Medical research / Medical sciences / Middle Aged / Molecular Sequence Data / Mutation / Pedigree / Penetrance / Phenotype / Primary Ovarian Insufficiency - genetics / Protein Conformation / Sequence Alignment / Steroidogenic Factor 1 - chemistry / Steroidogenic Factor 1 - genetics / Testis - pathology / Young Adult