IMR Press / CEOG / Volume 48 / Issue 6 / DOI: 10.31083/j.ceog4806230
Open Access Case Report
A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency
Show Less
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: (Hyen Chul Jo)
Clin. Exp. Obstet. Gynecol. 2021, 48(6), 1458–1462;
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 (

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.

Chromosomal abnormality
Isochromosome Xq
Premature ovarian insufficiency
Secondary amenorrhea
Turner syndrome
Fig. 1.
Back to top