April - June 2024, Volume 20, Issue 2

Ongen YD, Parlak A, Eren E

Heterokaryotic Monozygotic Turner Twins: an Interesting Presentation

Acta Endo (Buc) 2024, 20 (2): 244-246
doi: 10.4183/aeb.2024.244

Turner syndrome is the most common sex chromosomal abnormality in about 1:2000-2500 live female births. While short stature and delayed puberty are the most common presentations of patients, atypical findings can also be seen. In this article, we present the Turner twins, who were diagnosed during inguinal hernia surgery when bilateral uterus and ovaries were found within the hernia sac. To the best of our knowledge, our cases were the first defined heterokaryotic monozygotic twins with isochromosome Xq 46,X,i(X)(q10) and Xq mosacism (46,X,i(X)(q10;q10) [42]/47,X,i(X)(q10;q10)x2[8]).

Keywords: Heterokaryotic monozygotic twins, inguinal hernia, isochromosome Xq, Turner syndrome, Streak Ovary, discordant genotypes.

Correspondence: Prof. Erdal Eren, Bursa Uludag University Hospital. Department of Pediatric Endocrinology. Bursa, Turkey, E-mail: dreeren@gmail.com