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A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency

Authors :
Jong Chul Baek
Hyen Chul Jo
Seon Mi Lee
Ji Eun Park
In Ae Cho
Source :
Clinical and Experimental Obstetrics & Gynecology, Vol 48, Iss 6, Pp 1458-1462 (2021)
Publication Year :
2021
Publisher :
IMR Press, 2021.

Abstract

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 (

Details

Language :
English
ISSN :
03906663
Volume :
48
Issue :
6
Database :
Directory of Open Access Journals
Journal :
Clinical and Experimental Obstetrics & Gynecology
Publication Type :
Academic Journal
Accession number :
edsdoj.06a110ee90f14eb3a4154a086a37a6d3
Document Type :
article
Full Text :
https://doi.org/10.31083/j.ceog4806230