Premature ovarian failure (POF) in Brazilian fragile X carriers

Vianna‐Morgante, Angela Maria; Costa, Silvia Souza da; Pavanello, Rita de Cássia M.; Otto, Paulo Alberto; Mingroni‐Netto, Regina Célia

doi:10.1590/s1415-47571999000400002

Cited by 16 publications

(21 citation statements)

References 13 publications

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“…They estimated that 16% of women carrying premutation alleles had POI. Other authors have confirmed this prevalence [112,113,114,115,116,117,118]. …”

Section: Fragile X-associated Primary Ovarian Insufficiency (Fxpoi)supporting

confidence: 65%

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

Barasoain

Barrenetxea

Huerta

et al. 2016

Genes

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Menopause is a period of women’s life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. The etiology of POI is unknown but several genes have been reported as being of significance. The fragile X mental retardation 1 gene (FMR1) is one of the most important genes associated with POI. The FMR1 gene contains a highly polymorphic CGG repeat in the 5′ untranslated region of exon 1. Four allelic forms have been defined with respect to CGG repeat length and instability during transmission. Normal (5–44 CGG) alleles are usually transmitted from parent to offspring in a stable manner. The full mutation form consists of over 200 repeats, which induces hypermethylation of the FMR1 gene promoter and the subsequent silencing of the gene, associated with Fragile X Syndrome (FXS). Finally, FMR1 intermediate (45–54 CGG) and premutation (55–200 CGG) alleles have been principally associated with two phenotypes, fragile X tremor ataxia syndrome (FXTAS) and fragile X primary ovarian insufficiency (FXPOI).

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“…They estimated that 16% of women carrying premutation alleles had POI. Other authors have confirmed this prevalence [112,113,114,115,116,117,118]. …”

Section: Fragile X-associated Primary Ovarian Insufficiency (Fxpoi)supporting

confidence: 65%

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

Barasoain

Barrenetxea

Huerta

et al. 2016

Genes

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“…Although being functional, premutations have been associated to clinical manifestations. Premature ovarian failure is known to affect around 20% of women carrying the premutation 2, 8. More recently, the FMR1 premutation has been associated with a neurological defined condition affecting male carriers over 50 years of age, which has been designated fragile X‐associated tremor/ataxia syndrome (FXTAS) 9–11.…”

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confidence: 99%

Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat

et al. 2007

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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)(123,) (CGG)(109), and (CGG)(91) triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a "definite" diagnosis of FXTAS in the two carriers of the longest (CGG)(n). The carrier of the (CGG)(91) allele, although presenting a major radiological sign of the syndrome (symmetrical white-matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age.

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“…Studies have consistently shown female PMCs to be at significantly higher risk of experiencing POI than controls [23,24,25]. Female PMCs have an elevated risk of having an early menopause compared to both females with fragile X syndrome [17,26] and NC [17,24,25,27,28,29,30]. …”

Section: Resultsmentioning

confidence: 99%

“…One study has shown a significant relationship between paternally inherited mutations and early menopause/POI [35], while others have not found such a relationship [24,25,42]. No compelling evidence has been found for a relationship between skewed XCI in the development of POI [24,37,40,42,44].…”

Section: Resultsmentioning

confidence: 99%

Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health

Campbell

Eley

McKechanie

et al. 2016

Genes

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Female FMR1 premutation carriers (PMC) have been suggested to be at greater risk of ill health, in particular endocrine dysfunction, compared to the general population. We set out to review the literature relating to endocrine dysfunction, including premature ovarian insufficiency (POI), in female PMCs, and then to consider whether endocrine dysfunction in itself may be predictive of other illnesses in female PMCs. A systematic review and pilot data from a semi-structured health questionnaire were used. Medline, Embase, and PsycInfo were searched for papers concerning PMCs and endocrine dysfunction. For the pilot study, self-reported diagnoses in females were compared between PMCs with endocrine dysfunction (n = 18), PMCs without endocrine dysfunction (n = 14), and individuals without the premutation (n = 15). Twenty-nine papers were identified in the review; the majority concerned POI and reduced fertility, which are consistently found to be more common in PMCs than controls. There was some evidence that thyroid dysfunction may occur more frequently in subgroups of PMCs and that those with endocrine difficulties have poorer health than those without. In the pilot study, PMCs with endocrine problems reported higher levels of fibromyalgia (p = 0.03), tremor (p = 0.03), headache (p = 0.01) and obsessive–compulsive disorder (p = 0.009) than either comparison group. Further larger scale research is warranted to determine whether female PMCs are at risk of endocrine disorders other than those associated with reproduction and whether endocrine dysfunction identifies a high-risk group for the presence of other health conditions.

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Premature ovarian failure (POF) in Brazilian fragile X carriers

Cited by 16 publications

References 13 publications

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene

Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat

Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health

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