Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities

  • Jo, Hyen Chul (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine) ;
  • Park, Ji Kwon (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine) ;
  • Baek, Jong Chul (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine) ;
  • Park, Ji Eun (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine) ;
  • Kang, Min Young (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine) ;
  • Cho, In Ae (Department of Obstetrics and Gynecology, Gyeongsang National University Hospital, Gyeongsang National University College of Medicine)
  • Received : 2019.03.18
  • Accepted : 2019.04.15
  • Published : 2019.06.30
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Abstract

Purpose: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. Materials and Methods: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. Results: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was $23.1{\pm}7.8years$ (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. Conclusion: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

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