2012
DOI: 10.1016/j.fertnstert.2011.10.032
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Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)

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Cited by 41 publications
(30 citation statements)
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“…Mutations can be found in about 1.4-1.6% of women presenting with sporadic POI of unknown origin [16][17][18]21], with alterations of SF-1 including the hinge region, similarly to our patient.…”
Section: Discussionsupporting
confidence: 81%
See 1 more Smart Citation
“…Mutations can be found in about 1.4-1.6% of women presenting with sporadic POI of unknown origin [16][17][18]21], with alterations of SF-1 including the hinge region, similarly to our patient.…”
Section: Discussionsupporting
confidence: 81%
“…In human women (46, XX), mutations in SF-1/NR5A1 seem to be associated with impairment of ovarian development and function leading to primary ovarian insufficiency due to low ovarian reserve. Indeed, SF-1 mutation has been reported in familial and sporadic cases of primary ovarian insufficiency (POI), albeit it is a rather rare cause in sporadic cases (1.4-8%) [16][17][18]. However, SF-1 alterations seem to lead to different degrees of severity of impairment of ovarian function, depending on the mutation.…”
Section: Introductionmentioning
confidence: 99%
“…Mutations in the NR5A1 gene (MIM 184757; encoding steroidogenic factor 1 [SF-1]) have been associated with a spectrum of phenotypes ranging from primary adrenal insufficiency (AI) and complete 46,XY gonadal dysgenesis (6,7), to 46,XX primary AI, 46,XY DSD (disorders of sex development) including hypospadias (8,9), bilateral anorchia (10,11), hypogonadotropic hypogonadism (12), and primary ovarian failure (13)(14)(15)(16). Furthermore, according to the pivotal role of NR5A1 in regulating sex determination and differentiation, testicular descent, and reproduction (6,17), mutations in this gene have been recently associated in preliminary studies with severe forms of male factor infertility (18)(19)(20), with a frequency ranging from 0.7% (19), to 2.2% (20), to 3.5% (18).…”
mentioning
confidence: 99%
“…Since the report by Lourenço et al (2009), several studies have described screening for NR5A1 mutations in POF women (Camats et al, 2012;Janse et al, 2012;Jiao et al, 2013;Lakhal et al, 2012;Philibert et al, 2013;Suwanai et al, 2013;Voican et al, 2013).…”
Section: Nr5a1mentioning
confidence: 99%