| Autor: |
Brunoro GV; Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitoria, Espírito Santo, Brazil., Wolfgramm EV, Louro ID, Degasperi II, Busatto VC, Perrone AM, Batitucci MC |
| Jazyk: |
angličtina |
| Zdroj: |
Molecular biology reports [Mol Biol Rep] 2011 Oct; Vol. 38 (7), pp. 4343-6. Date of Electronic Publication: 2010 Nov 26. |
| DOI: |
10.1007/s11033-010-0560-x |
| Abstrakt: |
Cystic Fibrosis (CF) is an autosomal recessive disease, caused by mutations in the Cystic Fibrosis Transmembrane Regulator gene (CFTR). The most frequent mutation in CF is ΔF508. The disease is clinically characterized by elevated concentrations of sweat chlorides and abnormally thick mucus. It affects organs such as lung, pancreas, gastrointestinal and reproductive tract. Women with CF commonly present delayed puberty and amenorrhea due to malnutrition. Our objective was to screen the presence of ΔF508 mutation in 24 women with altered fertility. Nine of these women presented reduced fertility without a known cause, four showed polycystic ovaries and two had early menopause. One woman with early menopause was a carrier of the ΔF508 mutation. Our study demonstrates that it is possible that the frequency of CF mutations among patients with altered fertility may be higher than expected. Previous data showed that fibrocystic women can show reduced fertility, maternal mortality associated with pregnancy and increased incidence of spontaneous abortion. We therefore recommend that women with reduced fertility undertake genetic tests for a better evaluation of pregnancy risks and clinical monitoring. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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