Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental Disorders

If the height is more than 2 standard deviations below the mean for age and gender, it is defined as a short stature. Genetic factors are the most important factors playing role in short stature. Turner syndrome is a disorder caused by the absence of all or part of one of the X chromosomes or its structural abnormalities and is characterized by short stature, webbed neck, growth retardation, lymphedema of the hands and feet, low nuchal hairline, infertility, and widely spaced nipples. The situation where gonads, internal and/or external genitalia are inappropriate is known as ambiguous genitalia or disorders of sex development (DSD). In this study, cytogenetic test results of 344 patients with preliminary diagnosis of short stature or Turner syndrome or DSD were retrospectively evaluated. Cytogenetic analysis was performed in the genetics laboratory of Pediatrics Department, Faculty of Medicine, Ege University between the period of January 2010 and January 2015. The chromosomal abnormality was observed in 10 (49%), 31 (13.13%), and 9 (22.5%) cases of 68, 236, and 40 pediatric patients with short stature, Turner syndrome, and DSD indications, respectively. Based on the results of this study, structural chromosomal abnormalities constituted 80% of the genetic factors that caused short stature and the numerical chromosomal abnormalities constituted 80.65% of the genetic disorders that led to Turner syndrome. The 77.8% of patients with DSD or ambiguous genitalia had 46,XY karyotype and structural abnormalities were observed in the rest (22%). Because of high rate of chromosomal abnormalities, cytogenetic tests should always be performed in patients with the diagnosis of short stature, Turner Syndrome, and DSD.