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 (
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Case Report
A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency
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1
Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, 51472 Changwon, Republic of Korea
2
College of Medicine, Gyeongsang National University, 52828 Jinju, Republic of Korea
3
Department of Obstetrics and Gynecology, Gyeongsang National University Hospital, 52727 Jinju, Republic of Korea
*Correspondence: 73hccho@naver.com (Hyen Chul Jo)
Clin. Exp. Obstet. Gynecol. 2021, 48(6), 1458–1462;
https://doi.org/10.31083/j.ceog4806230
Submitted: 22 January 2021 | Revised: 5 March 2021 | Accepted: 7 April 2021 | Published: 15 December 2021
Copyright: © 2021 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license (https://creativecommons.org/licenses/by/4.0/).
Abstract
Keywords
Chromosomal abnormality
Isochromosome Xq
Premature ovarian insufficiency
Secondary amenorrhea
Turner syndrome
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