Päivi Miettinen

Onset of pediatric growth defects at the fetal stage

Päivi Miettinen HUS

Docent Päivi Miettinen, MD, studies children’s growth and the regulation of puberty development with Professor Taneli Raivio, and pediatric monogenic diabetes with Docent Tiinamaija Tuomi and Professor Timo Otonkoski.

Miettinen was actively involved in basic research until the 2010s. Since then, her focus has shifted more to clinical research. Miettinen’s translational research combines clinical research and basic research (methods of cellular and molecular biology as well as transgenic and knockout animal models in developmental biology).

In her studies, she attempts to find out how the function of beta cells is regulated and how disorders related to it are reflected in clinical diabetes.

– I’m interested in diabetes and growth defects and disorders in the development of puberty. They often originate in problems during fetal development which may only be solved by more precise knowledge of their minute details, Pediatric Endocrinologist Päivi Miettinen says.

MODY gene identified

Monogenic diabetes (MODY) is caused by a defect in genes involved in the function of beta cells. The aim is to map out the prevalence of these genes in Finland. At the same time, the researchers will study in vitro which medication would provide the best treatment for each MODY patient group.

– Once we are familiar with the cause of the disease on a functional level, we may test which treatment is best for the patient. We will also be able to provide the patients and their families with a more accurate prognosis and also better diagnose the disease in the patients’ relatives.

Diabetes studies have already shown that the Rfx6 gene defect can cause a mild beta cell malfunction and raise blood sugar levels. Thus, it may be classified as the new MODY gene.

– We also established that if the patient suffers from HNF1B-MODY, he/she may also have bile-duct development disorders which must be carefully monitored in adulthood.

The other important observation is that if the patients have cysts in their kidneys as well as diabetes, or HNF1B diabetes, their bile ducts must be carefully examined.

The aim of pediatric growth studies is to examine the prevalence of the congenital failure of the pituitary gland as well as new genes regulating the development of the pituitary gland in the Finnish population. The study, which is still at an early stage, uses both patient record systems and medical registers.

Contact details

Päivi Miettinen
Helsinki University Hospital Children and Adolescents