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2015, Number 1

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Rev Cuba Endoc 2015; 26 (1)

Familial clustering of genetic origin in first-degree relatives of women with polycystic ovary syndrome

Ovies CG, Sardiñas DI, Monteagudo PG, Martínez de Santelices CA, Lardoext FR

Language: Spanish
References: 27
Page: 21-32
PDF size: 152.59 Kb.


ABSTRACT

Introduction: manifestations of polycystic ovary syndrome in first-degree relatives of patients suffering this disorder have allowed suspecting the involvement of a genetic component in its pathogenesis.
Objectives: to identify the clinical characteristics of the polycystic ovary syndrome in the first-degree relatives of women with this syndrome and to detect the familial clustering for the polycystic ovary syndrome.
Methods: cross-sectional and descriptive study of 28 females with polycystic ovary syndrome and 28 syndrome-free females aged 18 to 49 years-old. They were questioned and physically examined, and a detailed family tree was created to look for first-degree relatives with the syndrome stigma. Summary statistics for all variables were estimated. A general familial clustering study in addition to a case and control study were performed. The 95 % CI odds ratio was estimated as an statistic that measures the range of association. The risk of suffering the disease in case of familial background was also assessed. The level of significance was p< 0.05 in every case.
Results: nineteen of the first-degree relatives of women with the polycystic ovary syndrome had hirsutism and just three of the controls (p= 0.00). Regarding the menstrual alterations, this disorder manifested itself in 16 of the first degree relatives and in 7 of the controls (p= 0.04). Baldness appears at early ages in 16 of first-degree male relatives and only 3 were found in the controls (p= 0.03). Of 48 studied first-degree relatives of women with polycystic ovary syndrome, 37.50 % met the syndrome criteria. The familial clustering study estimated that the relative of a patient is 14.27 more likely to suffer the disease.
Conclusions: polycystic ovary syndrome stigmas and the syndrome as such are frequent in the first-degree relatives of women suffering this disorder and it was proved that familiar clustering does exist.


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