Tuesday, 29 September 2009

City doctors find genetic link to premature ovarian failure in Indian women

By Syed Akbar
Hyderabad, Sept 27: A group of city doctors and researchers has found
a "genetic link" to the problem of premature ovarian failure, a
reproductive health condition wherein young women attain menopause.

Women, suffering from premature ovarian failure or POF, stop
producing eggs even before they turn 40. They develop menopause 10
to 25 years before average healthy women stop menstruating. The
average age of women with POF in India has been found to be between
24 and 30 years.

The joint study, carried out by the Institute of Genetics and Hospital for
Genetic Diseases, Government Maternity Hospital, and Maternal
Health and Research Trust, Hyderabad, Department of Obstetrics and
Gynaecology, University of Auckland, New Zealand, gains
significance as more and more Indian women are affected by the
problem of premature ovarian failure. On an average one per cent of
women below 40 years of age suffer from POF. The research team
comprised Dr Golla Jaya Prakash, Dr Vishnubhotla Venkata Ravi
Kanth, Dr Andrew N Shelling, Dr Roya Rozati and Dr Madireddi

POF not only causes infertility, but also leads to severe health
complications including osteoporosis, increased risk of heart disease
and auto immune disorders.

"The causes of POF have long attracted great interest. We have no
established a genetic basis for the problem. Absence of 566C - T
mutation in exon 7 of the FSHR gene causes premature ovarian failure
in Indian women. The condition often arises in association with defects
in the X chromosome, although autosomal genes are also thought to be
involved," one of the researchers Dr Roya Rozati told this

According to her, premature ovarian failure can be inherited either
paternally or maternally as a mendelian disorder with autosomal or X-
linked dominant transmission. Intermittent ovarian function has been
reported in some women, and pregnancy can occur in about five to 10
per cent of patients subsequent to diagnosis. The prevalence of
autoimmune diseases is almost 10 to 20 per cent in individuals with

"Autosomal abnormalities have now been identified in POF patients,
such as mutation of the LH and FSH receptor genes," she said, adding
that primary amenorrhea is mostly prevalent in the early reproductive
age group in Indian women.

The study suggested that mutational analysis of the inhibin alpha can
be used as a definite genetic marker for early diagnosis of POF, and
patients can be offered genetic counselling to plan their conception at
an early age of reproduction.

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