Premature ovarian failure (POF) in Brazilian fragile X carriers
The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. Although premature menopause showed a tendency to c...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
1999-12-01
|
| Series: | Genetics and Molecular Biology |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000400002 |
| _version_ | 1811306609921490944 |
|---|---|
| author | Angela M. Vianna-Morgante Silvia S. Costa Rita de C.M. Pavanello P.A. Otto Regina C. Mingroni-Netto |
| author_facet | Angela M. Vianna-Morgante Silvia S. Costa Rita de C.M. Pavanello P.A. Otto Regina C. Mingroni-Netto |
| author_sort | Angela M. Vianna-Morgante |
| collection | DOAJ |
| description | The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. Although premature menopause showed a tendency to cluster in certain fragile X families, as a group, the premutated women experienced menopause earlier than noncarriers. This suggests that premature menopause may be the extreme effect of a spectrum of ovarian anomalies associated with the fragile X premutation.<br>Entrevistamos 193 mulheres de famílias com afetados pela síndrome do cromossomo X frágil, quanto a sua história ginecológica e reprodutiva. Entre as 101 portadoras da pré-mutação, 14 tiveram menopausa precoce, mas nenhuma das 37 portadoras da mutação completa ou das 55 não portadoras apresentaram esta anomalia. Observamos uma tendência para a concentração da menopausa precoce em certas famílias, o que poderia significar uma peculiariedade de certas pré-mutações. Entretanto, o fato de as mulheres pré-mutadas tenderem a entrar em menopausa mais cedo do que as não portadoras sugere que a menopausa precoce seja o extremo do espectro de efeitos ovarianos da pré-mutação. |
| first_indexed | 2024-04-13T08:48:32Z |
| format | Article |
| id | doaj.art-1a01192ca0194a96ade9ed62e78a03bb |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-04-13T08:48:32Z |
| publishDate | 1999-12-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-1a01192ca0194a96ade9ed62e78a03bb2022-12-22T02:53:35ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46851999-12-0122447147410.1590/S1415-47571999000400002Premature ovarian failure (POF) in Brazilian fragile X carriersAngela M. Vianna-MorganteSilvia S. CostaRita de C.M. PavanelloP.A. OttoRegina C. Mingroni-NettoThe gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. Although premature menopause showed a tendency to cluster in certain fragile X families, as a group, the premutated women experienced menopause earlier than noncarriers. This suggests that premature menopause may be the extreme effect of a spectrum of ovarian anomalies associated with the fragile X premutation.<br>Entrevistamos 193 mulheres de famílias com afetados pela síndrome do cromossomo X frágil, quanto a sua história ginecológica e reprodutiva. Entre as 101 portadoras da pré-mutação, 14 tiveram menopausa precoce, mas nenhuma das 37 portadoras da mutação completa ou das 55 não portadoras apresentaram esta anomalia. Observamos uma tendência para a concentração da menopausa precoce em certas famílias, o que poderia significar uma peculiariedade de certas pré-mutações. Entretanto, o fato de as mulheres pré-mutadas tenderem a entrar em menopausa mais cedo do que as não portadoras sugere que a menopausa precoce seja o extremo do espectro de efeitos ovarianos da pré-mutação.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000400002 |
| spellingShingle | Angela M. Vianna-Morgante Silvia S. Costa Rita de C.M. Pavanello P.A. Otto Regina C. Mingroni-Netto Premature ovarian failure (POF) in Brazilian fragile X carriers Genetics and Molecular Biology |
| title | Premature ovarian failure (POF) in Brazilian fragile X carriers |
| title_full | Premature ovarian failure (POF) in Brazilian fragile X carriers |
| title_fullStr | Premature ovarian failure (POF) in Brazilian fragile X carriers |
| title_full_unstemmed | Premature ovarian failure (POF) in Brazilian fragile X carriers |
| title_short | Premature ovarian failure (POF) in Brazilian fragile X carriers |
| title_sort | premature ovarian failure pof in brazilian fragile x carriers |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000400002 |
| work_keys_str_mv | AT angelamviannamorgante prematureovarianfailurepofinbrazilianfragilexcarriers AT silviascosta prematureovarianfailurepofinbrazilianfragilexcarriers AT ritadecmpavanello prematureovarianfailurepofinbrazilianfragilexcarriers AT paotto prematureovarianfailurepofinbrazilianfragilexcarriers AT reginacmingroninetto prematureovarianfailurepofinbrazilianfragilexcarriers |