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. 2024 Dec 9;2024(4):hoae065. doi: 10.1093/hropen/hoae065
The guideline group recommends that HCPs inform women with POI of the different causes of POI, the limitations of current knowledge and testing for causes of POI, and that an exact cause may not be identified. GPP
The guideline group recommends that HCPs discuss the risk of POI as part of the consent process before a medical or surgical intervention that may cause POI. GPP
The guideline group recommends that HCPs discuss the implications of genetic testing before the test is performed. Referral for comprehensive genetic counselling should be considered. GPP
Chromosomal analysis testing is recommended for all women with non-iatrogenic POI.
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FMR1 premutation (Fragile X syndrome gene) testing is recommended for all women with non-iatrogenic POI
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Where available and after comprehensive genetic counselling, additional genetic testing (e.g. next-generation sequencing) can be offered to all women with non-iatrogenic POI to identify other potential genes that may cause POI
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The guideline group recommends that the age of a woman with POI should not be used to restrict access to genetic testing. GPP
Screening for 21-hydroxylase autoantibodies (21OH-Abs) should be performed in women with POI of unknown cause.
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Screening for anti-ovarian autoantibodies should not be used to diagnose autoimmune POI.
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Thyroid function should be assessed by measuring thyroid-stimulating hormone (TSH) at POI diagnosis. TSH measurement should be repeated every 5 years or when symptoms arise.
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The guideline group recommends that HCPs do not routinely perform thyroid peroxidase (TPO) antibody screening as part of testing for autoimmune causes of POI due to the high prevalence of positive TPO antibodies in the general community. GPP