ABSTRACT
Objective: to analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome [TS] patients
Study Design: descriptive study
Place and Duration of Study: department of Pediatric Endocrinology and Diabetes Unit-II, National Institute of Child Health, Karachi, from January 2011 to June 2016
Methodology: patients referred for the evaluation of short stature or delayed puberty were for the assessment of karyotype and phenotype correlations; standard karyotyping was executed and analysed on the basis of routine G-banding technique. Echocardiography and pelvic ultrasonography was also performed
Results: the study population consisted of 79 registered patients, with short stature and delayed puberty 48/79 [60.75%], short stature 68/79 [86.07%], and ambiguous genitalia 5/79 [6.32%]. Conferring to the karyotype analysis, classical Turner Syndrome 45, X was found in 42/79 [53.16%], isochromosomes 13/79 [16.45%], and mosaicism was present in 11/79 [14.1%]. Only 7/79 [8.86%] cases were diagnosed in infancy
Conclusion: the results of the study showed the consistency of short stature and delayed puberty in most of patients. Monosomy of X chromosome was the commonest followed by isochromosomes, mosaicism and structural abnormalities of X chromosome. No remarkable difference was found among classical and non-classical TS patients' height