A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency
Background: Premature ovarian insufficiency (POI) is defined as the onset of a menopausal state prior to 40 years of age. Of the various causes of POI, genetic abnormalities account for 10.8% of all cases, which can be categorized into either chromosomal or gene anomalies. Chromosomal abnormalities...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
IMR Press
2021-12-01
|
| Series: | Clinical and Experimental Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | https://www.imrpress.com/journal/CEOG/48/6/10.31083/j.ceog4806230 |
| _version_ | 1818005896965390336 |
|---|---|
| author | Jong Chul Baek Hyen Chul Jo Seon Mi Lee Ji Eun Park In Ae Cho |
| author_facet | Jong Chul Baek Hyen Chul Jo Seon Mi Lee Ji Eun Park In Ae Cho |
| author_sort | Jong Chul Baek |
| collection | DOAJ |
| description | Background: Premature ovarian insufficiency (POI) is defined as the onset of a menopausal state prior to 40 years of age. Of the various causes of POI, genetic abnormalities account for 10.8% of all cases, which can be categorized into either chromosomal or gene anomalies. Chromosomal abnormalities of the isochromosome Xq [i(Xq)] type have been recognized as common causes of POI. Cases: A 16-year-old female presented with secondary amenorrhea that had persisted for one year. Her physical examination was unremarkable, including a height of 158 cm and the presence of secondary sexual characteristics. Her serum level of follicle-stimulating hormone was elevated (66 mIU/mL), whereas her estradiol and anti-Müllerian hormone levels were decreased (<10 pg/mL and 0.02 pg/mL, respectively). Conventional cytogenetic analyses of a peripheral blood sample showed the karyotype of 46,X,ider(X)(q28)i(X)(q10). Conclusions: We describe a novel chromosomal structural abnormality of the i(Xq) type that is associated with a diagnosis of POI. |
| first_indexed | 2024-04-14T04:52:41Z |
| format | Article |
| id | doaj.art-06a110ee90f14eb3a4154a086a37a6d3 |
| institution | Directory Open Access Journal |
| issn | 0390-6663 |
| language | English |
| last_indexed | 2024-04-14T04:52:41Z |
| publishDate | 2021-12-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj.art-06a110ee90f14eb3a4154a086a37a6d32022-12-22T02:11:14ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632021-12-014861458146210.31083/j.ceog4806230S0390-6663(21)01648-1A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiencyJong Chul Baek0Hyen Chul Jo1Seon Mi Lee2Ji Eun Park3In Ae Cho4Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, 51472 Changwon, Republic of KoreaDepartment of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, 51472 Changwon, Republic of KoreaDepartment of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, 51472 Changwon, Republic of KoreaDepartment of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, 51472 Changwon, Republic of KoreaCollege of Medicine, Gyeongsang National University, 52828 Jinju, Republic of KoreaBackground: Premature ovarian insufficiency (POI) is defined as the onset of a menopausal state prior to 40 years of age. Of the various causes of POI, genetic abnormalities account for 10.8% of all cases, which can be categorized into either chromosomal or gene anomalies. Chromosomal abnormalities of the isochromosome Xq [i(Xq)] type have been recognized as common causes of POI. Cases: A 16-year-old female presented with secondary amenorrhea that had persisted for one year. Her physical examination was unremarkable, including a height of 158 cm and the presence of secondary sexual characteristics. Her serum level of follicle-stimulating hormone was elevated (66 mIU/mL), whereas her estradiol and anti-Müllerian hormone levels were decreased (<10 pg/mL and 0.02 pg/mL, respectively). Conventional cytogenetic analyses of a peripheral blood sample showed the karyotype of 46,X,ider(X)(q28)i(X)(q10). Conclusions: We describe a novel chromosomal structural abnormality of the i(Xq) type that is associated with a diagnosis of POI.https://www.imrpress.com/journal/CEOG/48/6/10.31083/j.ceog4806230chromosomal abnormalityisochromosome xqpremature ovarian insufficiencysecondary amenorrheaturner syndrome |
| spellingShingle | Jong Chul Baek Hyen Chul Jo Seon Mi Lee Ji Eun Park In Ae Cho A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency Clinical and Experimental Obstetrics & Gynecology chromosomal abnormality isochromosome xq premature ovarian insufficiency secondary amenorrhea turner syndrome |
| title | A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency |
| title_full | A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency |
| title_fullStr | A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency |
| title_full_unstemmed | A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency |
| title_short | A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency |
| title_sort | 16 year old patient with 46 x ider x q28 i x q10 chromosomal abnormalities diagnosed with premature ovarian insufficiency |
| topic | chromosomal abnormality isochromosome xq premature ovarian insufficiency secondary amenorrhea turner syndrome |
| url | https://www.imrpress.com/journal/CEOG/48/6/10.31083/j.ceog4806230 |
| work_keys_str_mv | AT jongchulbaek a16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT hyenchuljo a16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT seonmilee a16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT jieunpark a16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT inaecho a16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT jongchulbaek 16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT hyenchuljo 16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT seonmilee 16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT jieunpark 16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency AT inaecho 16yearoldpatientwith46xiderxq28ixq10chromosomalabnormalitiesdiagnosedwithprematureovarianinsufficiency |