A case of premature ovarian failure (POF) in a 31-year-old woman with a 47,XXX karyotype.
A case of POF in a 31-year-old woman with karyotype 47,XXX. The aim of the study was to discuss a case of POF in a 31-year-old patient with polysomy 47,XXX. The described karyotype is not usually associated with this characteristic physical phenotype. In some rare cases, menstrual disorders, sterility, secondary amenorrhoea, premature menopause, and low intelligence are found. Our observations revealed the necessity for cytogenetic examination in all women at reproductive age with symptoms of premature ovarian failure. According to the data found in literature, patients with POF and karyotype disorders belong to the risk group of premature death, mostly for cardiological reasons. Raising patient awareness about the risk may have a positive effect on quality of life and regularity of check-ups.
Skałba
Piotr
P
Department of Gynaecological Endocrinology, Medical University of Silesia, Katowice. keg@csk.katowice.pl
Cygal
Anna
A
Gierzyńska
Zuzanna
Z
D000328:Adult; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014314:Trisomy