Abstract

Background: Turner syndrome (TS), also known as congenital ovarian hypoplasia, is one of the most common sex chromosome diseases in women. It is caused by the complete or partial deletion or structural change of one X chromosome in all or part of somatic cells. A rare case of karyotype Turner syndrome is reported.
Methods: A 16-year-old female presented with oligomenorrhea and a history of menstrual irregularities. Menarche occurred at age 14, followed by only one menstrual period in the same year. Her second menstruation occurred a year later at age 15, with no menstruation thereafter. Peripheral venous blood was collected after obtaining informed consent. Routine lymphocyte culture and G-banding analysis revealed mosaic karyotypes: 44,X, der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27].
Conclusions: Menstrual disorders are very common nowadays and generally related to personal stress, endocrine system, etc., and may also be related to sex chromosomes. This case is caused by the abnormal structure and number of sex chromosomes.

DOI: 10.7754/Clin.Lab.2025.250236