Chromosomal aberrations in women with primary and secondary amenorrhea: A cross-sectional study Dania Al-Jaroudi 1 , Ayah Hijazi 1 , Mohammed Bashir 3 , Humariya Heena 3 and Soha A. Tashkandi 2 1 Reproductive Endocrine and Infertility Medicine Department, Women’s Specialized Hospital, 2 Cytogenetics & Molecular Cytogenetics Lab, Pathology & Clinical Laboratory Medicine Administration and 3 Research Centre, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia Abstract Aim: Among women of childbearing age, about 2–5% are affected by amenorrhea that is either primary or secondary. However, there are no data regarding the frequency and type of chromosomal abnormalities associated with amenorrhea in Saudi women. The present study aims to establish the frequency and pattern of chromosomal abnormalities in primary amenorrhea (PA) and secondary amenorrhea (SA) cases in a ter- tiary care center, Riyadh, Saudi Arabia. Methods: This cross-sectional study was conducted between 2013 and 2016 on women referred to the Repro- ductive Endocrine and Infertility Medicine Department at a tertiary care center in Riyadh. Women were divided into two groups: PA and SA. After the initial diagnosis of amenorrhea based on medical history, physical examination, hormonal profile and ultrasonography, chromosome karyotype analysis was con- ducted on metaphase preparations following routine cytogenetics culture and harvest methods. Results: Chromosomal tests were performed for 53 patients (42 with PA and 11 with SA) out of 79 referred patients with amenorrhea. About 19% of the 42 patients with PA and 1 patient (9.1%) diagnosed as SA showed an abnormal karyotype. The most common abnormal karyotypes observed were 46, XY and 45, X. Conclusion: The present study indicates that the chromosomal analysis after the exclusion of nongenetic causes should be essentially considered for the precise diagnosis and the development of more successful management for females with amenorrhea. This study also revealed that the prevalence of chromosomal abnormalities in women with PA and SA is similar to that reported in the literature. Key words: amenorrhea, chromosome aberration, karyotyping, Saudi. Introduction Among women of childbearing age, about 2–5% are affected by amenorrhea. 1 Primary amenorrhea (PA) affects 1–3% of women and secondary amenorrhea (SA) affects 3–4%. 2 PA is defined as the absence of menses by 14 years of age in the absence of secondary sexual characteristics, or the absence of menses by the age of 16 years, regardless of the presence or absence of secondary sexual characteristics. 3 Conversely, SA is defined as no menses for three cycles or for 6 months in a woman who has previously menstruated. 3 How- ever, it is imperative not to delay evaluation of patients until the previous definitions are met. 3 A symptom rather than a disease, amenorrhea has many causes. 1 These include pregnancy, hormonal disorders, endometritis, improperly functioning ova- ries and mullerian dysgenesis. 4 Any alteration in the hypothalamic-pituitary-ovarian axis due to physiolog- ical, pathological and iatrogenic causes may lead to Received: January 21 2019. Accepted: April 28 2019. Correspondence: Dr Dania Al-Jaroudi, Reproductive Endocrine and Infertility Medicine Department, King Fahad Medical City, P.O. Box: 59046, Riyadh 11525, Kingdom of Saudi Arabia. Email: daljaroudi@kfmc.med.sa 1 © 2019 Japan Society of Obstetrics and Gynecology doi:10.1111/jog.14006 J. Obstet. Gynaecol. Res. 2019