Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency

Wheeler, Anne; Raspa, Melissa; Green, Annette; Bishop, Ellen; Bann, Carla; Edwards, Anne; Bailey, Donald B.

doi:10.3389/fgene.2014.00300

Cited by 27 publications

(23 citation statements)

References 39 publications

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“…43 Our population did, however, start having children in 1960 when the prevalence of all these obstetric morbidities were lower. We found a lower risk of pre-eclampsia than other studies in women with FXPOI, 13 but our results are similar to an older study that concluded carriers were not at increased risk for adverse obstetric outcomes except for a slight risk for non-specific late pregnancy bleeding. 44 …”

Section: Discussionsupporting

confidence: 84%

“…Other studies have included less than 75 women and use survey methodologies. 13,54,56 The structured interview by a reproductive endocrinologist allowed us to gather a wider and more detailed amount of information about aspects of care, including details regarding obstetric history and the use of HT and fertility medications, that other studies have not evaluated. We were able to capture women with a range of educational backgrounds, with 37% not having completed college, and from all areas of the country, including a mix of both urban and rural areas.…”

Section: Discussionmentioning

confidence: 99%

“…1/148 7 to 1/257 8 women). These women are not only at risk for POI (termed fragile X-associated POI (FXPOI), which occurs in approximately 20% of carriers, 9 but also for diminished ovarian reserve, 10–12 infertility, 13 poor response to ovarian stimulation, 14,15 and irregular cyles. 16 In addition to the reproductive impact, women with early menopause have increased risk for earlier mortality, 17 cardiovascular disease, 18 earlier cognitive decline, 19 and osteoporosis.…”

Section: Introductionmentioning

confidence: 99%

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Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)

Hipp¹,

Charen

Spencer³

et al. 2016

Menopause

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Objective Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X- associated POI (FXPOI). Methods Semi-structured interviews with 79 women with FXPOI were conducted by a single interviewer. FMR1 CGG repeat size was determined from a blood, saliva, or buccal sample. Results The median age of POI onset for women in our study was 33 years. 72% of the women had a FMR1 CGG repeat length of 80–100. Mean length of time from symptom onset to POI diagnosis was 1.12 years, longer in women with a younger age of POI onset and shorter in women who knew they were carriers. After diagnosis, 52% of women never took hormone therapy, started it years after POI diagnosis, or stopped it prior to 45 years of age. 49% of the women had infertility, but 75% had had at least one genetically- related child. Obstetric outcomes were similar to the general population. 46% of women had a diagnosis of low bone mineral density or osteoporosis, and an additional 19% had never had a bone density assessment. Conclusions Women with FXPOI are at significant risk for delayed POI diagnosis and undertreatment with hormone therapy. Although nearly 50% of the women had infertility, most were able to conceive at least one child and had no elevated risk of adverse obstetric outcomes.

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)

Hipp¹,

Charen

Spencer³

et al. 2016

Menopause

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“…Differences in oestradiol have not been identified [36,45] while the levels of inhibin A and B may be reduced, but only in certain phases of the menstrual cycle [45]. As might be expected, the later development of POI has been linked to increased rates of uptake of fertility assistance, which are higher among PMCs with POI, compared to those without POI [46]. PMCs have also been observed to show a reduced response to ovarian hyperstimulation compared to the typical population [32].…”

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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“…However, case 8 (II-5), who was the only woman unavailable for DNA testing, reported that she had reproductive difficulties despite having a sexual partner and reproductive desire, a finding also reported in 12.6 % of the female carriers of premutation (33). None of the carriers had learning difficulties or emotional problems.…”

Section: Discussionmentioning

confidence: 98%

Fragile X Syndrome in a Colombian Family

Saldarriaga¹,

Hagerman

Salcedo-Arellano³

et al. 2018

iatreia

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SUMMARYA study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis.The proband was diagnosed with Fragile X syndrome by DNA molecular testing and, cascade testing, performed on all available family members, identifying two additional individuals with the full mutation and four carriers of a premutation allele.With this report we seek to contribute to Colombian epidemiology of the syndrome and emphasize the importance of diagnosis to provide a comprehensive and specific treatment to those affected. Further we seek to identify premutation carriers in their families or women with a full mutation without the classic phenotype for genetic counseling and education about potential associated pathologies. KEY WORDSFMRP; Fragile X Syndrome; Genetic Counseling; Intellectual Disability IATREIA Vol 31(1) enero-marzo 2018 77 RESUMEN Sindrome X frágil en una Familia ColombianaSe realizó un estudio descriptivo a una familia de Cali, Colombia, en el cual se evaluaron nueve pacientes, tres de los cuales presentaban discapacidad intelectual sin diagnóstico etiológico anterior. El caso índice fue diagnosticado con el síndrome X frágil mediante pruebas moleculares de ADN. Se realizaron pruebas en cascada a todos los miembros de la familia disponibles, identificando dos individuos adicionales con la mutación completa y cuatro portadores del alelo con pre mutación. Con este informe pretendemos contribuir a la epidemiología colombiana del síndrome y destacamos la importancia del diagnóstico etiológico de la discapacidad intelectual y proporcionar un tratamiento integral y específico a las personas afectadas. Además se busca identificar a los portadores de la pre mutación o mujeres con mutación completa sin fenotipo clásico para el asesoramiento genético y la educación sobre posibles patologías asociadas.

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Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency

Cited by 27 publications

References 39 publications

Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)

Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)

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

Fragile X Syndrome in a Colombian Family

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