Genetic abnormalities in Turkish women with premature ovarian failure.
OBJECTIVE
To identify the distribution of cytogenetic abnormalities among Turkish women with premature ovarian failure (POF).


METHODS
A karyotype analysis was performed at the Medical Genetics Department of Zekai Tahir Burak Women's Hospital, Ankara, Turkey, for 75 women younger than 40years found to have POF over a 5-year period.


RESULTS
There were 18 familial cases (24%), 1 of which involving an abnormality of the X chromosome [46,X,del(X)(q22)]. Sixteen patients (21.3%) had chromosomal abnormalities such as Xq and Xp deletions, translocations, and numerical aberrations; 2 had Swyer syndrome; 2 were fragile X premutation carriers; and 1 had galactosemia.


CONCLUSIONS
A genetic cause of POF was identified in 39 (52%) of 75 patients. A thorough genetic evaluation of women with POF should be performed regardless of clinical features suggestive of chromosomal abnormality.
Ceylaner
Gulay
G
Intergen Genetics Center, Ankara, Turkey. gulayceylaner@intergen.com.tr
Altinkaya
Sunduz Ozlem
SO
Mollamahmutoglu
Leyla
L
Ceylaner
Serdar
S
D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D015994:Incidence; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000706:statistics & numerical data*; D014421:Turkey / Q000453:epidemiology