Clinical And Cytogenetic Study Of Turner Syndrome And Its Variants

ABSTRACT

62 cases of Turner syndrome (T.S) were clinically diagnosed and sent to cytogenetic laboratory for confirmationof the diagnosis through karyotyping from 2012 to 2018. Out of 62 cases, 43 turned out to be T.S & its variants.Most commonly observed karyotype was 45,X (62.79%), followed by 45,X/ 46,XX (23.25%), 45,X/ 46,Xi (6.97%)mosaicism, 4.65% of 46,Xi & 2.32% of a very rare type of variant of T.S i,e 45,X/ 46,XY.Patients with 45,X karyotype had typical features of T.S such as short stature (< 5feet or 150cms), delayedappearance of secondary sexual characters & dysmorphic facies, the main complaint of these patients wasprimary amenorrhoea. Patients were younger at diagnosis & had a significant shorter mean adult height thanthose with 45,X/ 46,XX mosaicism. Those with mosaicism had mild dysmorphic features & presented withprimary or secondary amenorrhoea. The rarest type of T.S (45,X/ 45,XY) was presented in a new born withambiguous genitalia (suspected for CAH).Short stature with sexual infantilism & primary or secondary amenorrhoea in a young female should suggest thepossibility of Turner syndrome, which should be confirmed by chromosome analysis.