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How    to    cite    this    Article:     Ashish    Sharma,    Tarsem    kumar,    Rima    dada.     CYTOGENETIC    ANALYSIS    OF    PREMATURE    OVARIAN    FAILURE PATIENTS.  Int J Anatomy Res 2016;4(4):3030-3035. DOI: 10.16965/ijar.2016.371.
Type of Article: Original Research DOI: http://dx.doi.org/10.16965/ijar.2016.371 Page No.:  3030-3035
CYTOGENETIC ANALYSIS OF PREMATURE OVARIAN FAILURE PATIENTS Ashish Sharma * 1 , Tarsem kumar 2 ,  Rima dada 3 . *1 Assistant Professor, Department of Anatomy,  MRA Medical College,  Ambedkar Nagar (U.P), India . 2  Demonstrator, Department of Anatomy,  MRA Medical College, Ambedkar Nagar(U.P), India . 3  Additional Professor, Department of Anatomy,  All India Institute of Medical Science (AIIMS), New Delhi, India Address   for   Correspondence:   Dr.   A.Sharma,   Assistant   Professor,   Department   of   Anatomy,      MRA   Medical   College,      Ambedkar   Nagar   (U.P),   India .    E-Mail:   ashish7644@gmail.com ABSTRACT Premature   ovarian   failure   (POF)   is   defined   as   amenoirhea   for   more   than   6   months   in   the   presence   of   raised   gonadotrophins,   FSH   serum   level   higher   than   40 mIU/ml,   occulting   before   the   age   of   40.   In   this   study,   we   have   done   karyotyping   of   POF   patients.   The   findings   which   consist   of   55%   Karyotype   abnormality are   17%   46,X0,   4%   46,XX(Xr),   20%   46XX(Xq   del),   6%   46,XX(Xinv),   6%   47,XXX   and   2%   46,XX(Xqiso).The   (mean   ±   S.D.)   height   of   all   the   POF   patient   142.5±0.18 and   the   (mean   ±   S.D.)   FSH   of   all   the   POF   patients   45.21±17.41.   As   we   have   correlated   the   finding   especially   Xqdel   and   XO   the   (mean   ±   S.D.)   height(ft)   4ft 8inch   ±   0.39   and   4ft6inch   ±   0.21,   respectively   .   The   hormonal   level   FSH   especially   Xqdel   and   XO   The   (mean   ±   S.D.)   FSH   (mIU)   93±   31.91   and   92.66   ±   23.75, respectively.   The   chromosomal   abnormality   especially   turner   syndrome,   X-chromosomal   abnormality   associated   with   POF   patients   as   shown   by   this   study. Hence, the early detection of these cytological abnormalities in individuals of early age group will prevent POF along with their consequences in future. KEY WORDS:  Premature ovarian failure (POF), Amenoirhea, Gonadotrophins, Karyotyping, Chromosomal Abnormality . References 1 . Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol 1986;67(4):604-6. 2 . Vegetti   W,   Grazia   Tibiletti   M,   Testa   G,   de   Lauretis   Y,   Alagna   F,   Castoldi   E.   Inheritance   in   idiopathic   premature   ovarian   failure:   analysis   of   71   cases.   Hum Reprod 1998;13(7):1796-800. 3 . Jagarlamudi   K,   Reddy   P,   Adhikari   D,   Liu   K.   Genetically   modified   mouse   models   for   premature   ovarian   failure   (POF).   Mol   Cell   Endocrinol.   2009;315:1–10. doi:10.1016/j.mce.2009.07.016 4 . Aittomaki   K,   Herva   R,   Stenman   UH,   Juntunen   K,   Ylostalo   P,   Hovatta   O.   Clinical   features   of   primary   ovarian   failure   caused   by   a   point   mutation   in   the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab 1996;81(10):3722-6. 5 . Di   Pasquale   E,   Beck-Peccoz   P,   Persani   L.   Hypergonadotropic   ovarian   failure   associated   with   an   inherited   mutation   of   human   bone   morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 2004;75(1):106-11. 6 . Powell   CM,   Taggart   RT,   Drumheller   TC,   Wangsa   D,   Qian   C,   Nelson   LM.   Molecular   and   cytogenetic   studies   of   an   X;autosome   translocation   in   a   patient with premature ovarian failure and review of the literature. Am J Med Genet 1994;52(1):19-26. 7 . Krauss   CM,   Turksoy   RN,   Atkins   L,   McLaughlin   C,   Brown   LG,   Page   DC.   Familial   premature   ovarian   failure   due   to   an   interstitial   deletion   of   the   long   arm   of the X chromosome. N Engl J Med 1987;317(3):125-31. 8 . Santoro N. Mechanisms of premature ovarian failure. Ann Endocrinol (Paris) 2003;64(2):87-92. 9 . Bentov   Y,   Esfandiari   N,   Burstein   E,   Casper   RF   (2010)   The   use   of   mitochondrial   nutrients   to   improve   the   outcome   of   infertility   treatment   in   older patients. Fertil Steril 93:272–275 1 0 . Seda   Ateş1,   Pınar   Özcan1,   Gözde   Yeşil2   1Kadın   Hastalıkları   ve   Doğum   ABD,   2Tıbbi   Genetik   ABD,   Genetic   Analysis   in   Women   with   Premature Ovarian Failure.   J Clin Anal Med 2016;7(5): 630-3 1 1 . Christin-Maitre S, Vasseur C, Portnoi MF, Bouchard P. Genes and premature ovarian failure. Mol Cell Endocrinol 1998;145(1-2):75-80. 1 2 . Rooney   DE,   Czepulkowski   BH.   Prenatal   diagnosis   and   tissue   culture.   In:   Rooney   DE,   Czepulkowski   BH,   eds.   Human   cytogenetics:   a   practical   approach. 2nd ed. Oxford: IRL, 1992:55-89. 1 3 . Sumner   T.   Adrian   . Chromosome   Banding   and   Identification   Absorption   Staining.   Methods   in   Molecular   Biology      |      Volume :    29      |      Pub.   Date :    Feb-07- 1994  |  Page   Range:   59-81   1 4 . Loughlin   SA,   Redha   A,   McIver   J,   Boyd   E,   Carothers   A,   Connor   JM.   Analysis   of   the   origin   of   Turner's   syndrome   using   polymorphic   DNA   probes.   J   Med Genet 1991;28(3):156-8. 1 5 . Maraschio P, Tupler R, Barbierato L, Dainotti E, Larizza D, Bernardi F. An analysis of Xq deletions. Hum Genet 1996;97(3):375-81. 1 6 . Therman E, Laxova R, Susman B. The critical region on the human Xq. Hum Genet 1990;85(5):455-61. 1 7 . Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update 2005;11(4):391-410. 1 8 . Van   Asselt   KM,   Kok   HS,   Putter   H,   Wijmenga   C,   Peeters   PH,   van   der   Schouw   YT.   Linkage   analysis   of   extremely   discordant   and   concordant   sibling   pairs identifies quantitative trait loci influencing variation in human menopausal age. Am J Hum Genet 2004(b);74(3):444-53. 1 9 . Tharapel   AT,   Anderson   KP,   Simpson   JL,   Martens   PR,   Wilroy   RS,   Jr.,   Llerena   JC,   Jr..   Deletion   (X)(q26.1-->q28)   in   a   proband   and   her   mother:   molecular characterization and phenotypic-karyotypic deductions. Am J Hum Genet 1993;52(3):463-71. 2 0 . Marozzi   A,   Manfredini   E,   Tibiletti   MG,   Furlan   D,   Villa   N,   Vegetti   W.   Molecular   definition   of   Xq   common-deleted   region   in   patients   affected   by   premature ovarian failure. Hum Genet 2000;107(4):304-11 2 1 . Rossetti   F,   Rizzolio   F,   Pramparo   T,   Sala   C,   Bione   S,   Bernardi   F.   A   susceptibility   gene   for   premature   ovarian   failure   (POF)   maps   to   proximal   Xq28.   Eur   J   Hum Genet 2004;12(10):829-34. 2 2 . Sarto GE, Therman E, Patau K. X inactivation in man: a woman with t(Xq--;12q+). Am J Hum Genet 1973;25(3):262-70. 2 3 . Eggermann   T,   Meschede   D,   Schuler   H,   Palm   S,   Glaser   D,   Horsthemke   B.   Premature   ovarian   failure   associated   with   a   small   terminal   Xq   deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. Clin Genet 2005;67(5):434-7. 2 4 . Demirhan   O,   Tanrıverdi   N,   Tunç   E,   Inandıklıoğlu   N,   Süleymanova   D.   Frequency   and   types   of   chromosomal   abnormalities   in   Turkish   women   with amenorrhea. J Pediatr Adolesc Gynecol 2014;27(5 ):274-7.
Volume 4 |Issue 4.2 |  2016 Date of Publication:  30 November 2016