Preuranjena menopauza- POF

Menopause Int 2009;15:72-75

Aetiology of premature ovarian failure


Svetlana Vujovic
Institute of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia
Correspondence: Professor Svetlana Vujovic PhD MD, Institute of Endocrinology, Clinical Center of Serbia, Dr Subotica 13, 11000 Belgrade, Serbia. Email: vujovics@EUnet.rs


Premature ovarian failure (POF) is the occurrence of hypergonadotropichypoestrogenic amenorrhoea in women under the age of 40 years.POF is idiopathic in 74–90% of cases but can be familial(4–33%) or sporadic. The known causes are: genetic aberrations;autoimmune ovarian damage; iatrogenic following surgery, radiotherapyor chemotherapy; environmental factors (viruses, toxins, etc.);and metabolic (galactosaemia, 17 OH deficiency, etc.) Geneticaberrations could involve the X chromosome (monosomy, trisomyor translocations) or be autosomal. Genetic mechanisms includereduced gene dosage and non-specific chromosome effect impairingmeiosis, decreasing the pool of primordial follicles and increasingatresia due to apoptosis or failure of follicle maturation.The genes for POF-1 are localized to Xq 21.3–Xq27 andfor POF-2 to Xq13.3–21.1. The FMR1 gene is responsiblefor the fragile X syndrome. It occurs due to CGG expansion ofmore than 55 repeats at the 5'UTR (Xq 27.3), which is associatedwith gene silence resulting in mental retardation in males,and POF in female carriers. Autoimmune ovarian damage is causedby the alteration of T-cell subsets and T-cell-mediated injury,increase of autoantibody producing B-cells and a low numberof effector supressor/cytotoxic lymphocyte and a decrease ofnumber and activity of natural killer cells. POF can be associatedwith other non-endocrine and endocrine diseases. The mutationsof AIRE gene are responsible for polyendocrinopathies (APS I–III).As the cause of POF is unknown in the majority of cases andthe number of women with POF is increasing, the primary goal of scientific groups worldwide should be focused on the study of the aetiology of POF.