SEX CHROMOSOME MOSAICISM IN THE GONADS OF PATIENTS WITH PREMATURE OVARIAN FAILURE


Дәйексөз келтіру

Толық мәтін

Ашық рұқсат Ашық рұқсат
Рұқсат жабық Рұқсат берілді
Рұқсат жабық Рұқсат ақылы немесе тек жазылушылар үшін

Аннотация

Objective. To study sex chromosomes in the interphase nuclei of gonadal cells in patients with premature ovarian failure (POF) and gonadal dysgenesis. Subjects and methods. A study group comprised 29 patients with POF and a normal karyotype in lymphocytes; a comparison group included 2 patients with POF and abnormal (47,XXY and 45,Х/46,ХХ) karyotypes in lymphocytes and 3 patients with gonadal dysgenesis (2 had a normal karyotype and 1 had a full form of 45,X). A control group consisted of 10 ovarian tissue autopsy specimens from young women. Fluorescence in-situ hybridization was used. Results. Different types of gonadal sex chromosome mosaicism were found in 21 (72.4%) of the 29 patients of the study POF group, in 1 (50%) in the comparison POF group, and in all 3 patients with gonadal dysgenesis. Among the 10 control ovaries, tissue mosaicism was detected only in 2 (20%) cases, which was statistically significantly less than that in patients with ovarian failure (p < 0.003). Ovarian tissues showed 2 to 50% of Y chromosome cells that were not found in the lymphocytes in 1 (3.4%) patient with POF and in 2 (66.6%) patients with gonadal dysgenesis. Conclusion. Occult gonadal sex chromosome mosaicism may be a mechanism of premature exhaustion of the follicular pool in patients with POF as in those with different forms of gonadal dysgenesis.

Толық мәтін

Рұқсат жабық

Авторлар туралы

N. ZHAKHUR

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

L. MARCHENKO

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

Email: l_marchenko@oparina4.ru

L. KURILO

Research Center for Medical Genetics, Russian Academy of Medical Sciences

A. KARSELADZE

N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences

L. BUTAREVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

A. STROGANOVA

N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences

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