Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes
Premature ovarian failure is defined as the loss of functional follicles below the age of 40 years and the incidence of this abnormality is 0.1% among the 30–40 years age group. Unexplained POF is clinically recognized as amenorrhoea (>6 months) with low level of oestrogen and raised level of Lut...
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| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/640563 |
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| author | Lakshmi Rao Kandukuri Venkata Padmalatha Murthy Kanakavalli Raseswari Turlapati Mangalipally Swapna Metuku Vidyadhari Govindaraghavan Saranaya Kattera Himaja Mamata Deenadayal Bipin Kumar Sethi Prasun Deb Nalini Gupta Baidyanath Chakraborthy Pratibha Nallari Lalji Singh |
| author_facet | Lakshmi Rao Kandukuri Venkata Padmalatha Murthy Kanakavalli Raseswari Turlapati Mangalipally Swapna Metuku Vidyadhari Govindaraghavan Saranaya Kattera Himaja Mamata Deenadayal Bipin Kumar Sethi Prasun Deb Nalini Gupta Baidyanath Chakraborthy Pratibha Nallari Lalji Singh |
| author_sort | Lakshmi Rao Kandukuri |
| collection | DOAJ |
| description | Premature ovarian failure is defined as the loss of functional follicles below the age of 40 years and the incidence of this abnormality is 0.1% among the 30–40 years age group. Unexplained POF is clinically recognized as amenorrhoea (>6 months) with low level of oestrogen and raised level of Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH > 20 IU/l) occurring before the age of 40. It has been studied earlier that chromosomal defects can impair ovarian development and its function. Since there is paucity of data on chromosomal defects in Indian women, an attempt is made to carry out cytogenetic evaluation in patients with ovarian failure. Cytogenetic analysis of women with ovarian defects revealed the chromosome abnormalities to be associated with 14% of the cases analyzed. Interestingly, majority of the abnormalities involved the X-chromosome and we report two unique abnormalities, (46,XXdel(Xq21-22) and q28) and (mos,45XO/46,X+ringX) involving X chromosome in association with ovarian failure. This study revealed novel X chromosome abnormalities associated with ovarian defects and these observations would be helpful in genetic counseling and apart from, infertility clinics using the information to decide suitable strategies to help such patients. |
| format | Article |
| id | doaj-art-09203fcb733b45048c32e6f611c04db4 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-09203fcb733b45048c32e6f611c04db42025-02-03T01:12:15ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/640563640563Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X ChromosomesLakshmi Rao Kandukuri0Venkata Padmalatha1Murthy Kanakavalli2Raseswari Turlapati3Mangalipally Swapna4Metuku Vidyadhari5Govindaraghavan Saranaya6Kattera Himaja7Mamata Deenadayal8Bipin Kumar Sethi9Prasun Deb10Nalini Gupta11Baidyanath Chakraborthy12Pratibha Nallari13Lalji Singh14Clinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaInfertility Institute and Research Centre, Secunderabad 500063, IndiaTapadia Diagnostic Centre, Hyderabad 500029, IndiaKrishna Institute of Medical Sciences, Hyderabad 500016, IndiaInstitute of Reproductive Medicine, Kolkata 700064, IndiaInstitute of Reproductive Medicine, Kolkata 700064, IndiaDepartment of Genetics, Osmania University, Hyderabad 500007, IndiaClinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, IndiaPremature ovarian failure is defined as the loss of functional follicles below the age of 40 years and the incidence of this abnormality is 0.1% among the 30–40 years age group. Unexplained POF is clinically recognized as amenorrhoea (>6 months) with low level of oestrogen and raised level of Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH > 20 IU/l) occurring before the age of 40. It has been studied earlier that chromosomal defects can impair ovarian development and its function. Since there is paucity of data on chromosomal defects in Indian women, an attempt is made to carry out cytogenetic evaluation in patients with ovarian failure. Cytogenetic analysis of women with ovarian defects revealed the chromosome abnormalities to be associated with 14% of the cases analyzed. Interestingly, majority of the abnormalities involved the X-chromosome and we report two unique abnormalities, (46,XXdel(Xq21-22) and q28) and (mos,45XO/46,X+ringX) involving X chromosome in association with ovarian failure. This study revealed novel X chromosome abnormalities associated with ovarian defects and these observations would be helpful in genetic counseling and apart from, infertility clinics using the information to decide suitable strategies to help such patients.http://dx.doi.org/10.1155/2012/640563 |
| spellingShingle | Lakshmi Rao Kandukuri Venkata Padmalatha Murthy Kanakavalli Raseswari Turlapati Mangalipally Swapna Metuku Vidyadhari Govindaraghavan Saranaya Kattera Himaja Mamata Deenadayal Bipin Kumar Sethi Prasun Deb Nalini Gupta Baidyanath Chakraborthy Pratibha Nallari Lalji Singh Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes Case Reports in Genetics |
| title | Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes |
| title_full | Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes |
| title_fullStr | Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes |
| title_full_unstemmed | Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes |
| title_short | Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes |
| title_sort | unique case reports associated with ovarian failure necessity of two intact x chromosomes |
| url | http://dx.doi.org/10.1155/2012/640563 |
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