A study from the University of Birmingham, in collaboration with Northwestern University in Chicago, has shown that infant daughters of women with polycystic ovary syndrome (PCOS) are more likely to develop the complex genetic disease.


The study showed that female toddlers aged one to three years whose mothers have PCOS had a 30% higher level of an enzyme that activates testosterone, which may be an early indicator of the disease, than infants whose mothers did not have the disease. That could mean that the altered metabolism of the mothers influences the metabolism of the girls even before they are born.

PCOS, a serious metabolic disorder, is one of the leading causes of hormonally related infertility and type 2 diabetes in young women. Women with PCOS are also typically found to have high male hormone levels in their blood. Large studies have shown that 5-10% of the female population suffers from PCOS, which means that this condition affects millions of women in the UK.

It has long-term health risks throughout a woman's lifespan, including obesity, prediabetes and diabetes. Affected women also have other risk factors for heart disease, such as high blood pressure.

Scientists have long sought the primary driver of the disease. This research may enable the development of early treatment or improved prevention.

Professor Wiebke Arlt, Director of the Institute of Metabolism and Systems Research at the University of Birmingham and Senior Author of the study explained the significance of the study:

“ We now know that daughters of women with PCOS show already changes in their hormone metabolism before they reach puberty and start to show clinical signs of PCOS. We now need to see whether these girls indeed progress to developing overt PCOS.”

Dr Jan Idkowiak, MRC Clinical Research Training Fellow and paediatric endocrine trainee from the University of Birmingham and co-author of the study commented:   "In children and adolescents, PCOS cannot be diagnosed until after puberty. In this study we have been trying to look for early changes that may indicate if daughters of PCOS women are at risk of developing the disease. We hope we may be able to develop early treatment or improved prevention, if we can catch it early."

Scientists measured 5-alpha-reductase activity, an enzyme that activates male hormones, by measuring steroid hormones in the urine of infant girls (1 to 3 years old). The study included 21 girls with mothers with PCOS and 36 control girls. The goal was to determine if daughters of women with PCOS have altered androgen metabolism in early childhood. The study showed the daughters of women with PCOS had a 30 percent higher level of the enzyme activity.

J Clin Endocrinol Metab. 2016 Mar 18:jc20153926. [Epub ahead of print]