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IJAR.2020.128

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Type of Article:  Original Research

Volume 8; Issue 2.1 (April 2020)

Page No.: 7440-7444

DOI: https://dx.doi.org/10.16965/ijar.2020.128

CLINICAL AND CYTOGENETIC STUDY OF TURNER SYNDROME AND ITS VARIANTS

Shailaja CM 1, Shobha *2, Vijayakumar  BJ 3, Pravinkumar NK 4.

1 Professor,  Department of Anatomy, SSIMS & RC, Davangere, Karnataka, India.

*2 Associate Prof2 – Dept. of Anatomy, JJMMC, Davangere, Karnataka, India

3 Professor & Head, Department of Forensic Medicine & Toxicology, SSIMS & RC, Davangere, Karnataka, India.

4 Associate Professor, Department of Forensic Medicine & Toxicology, SSIMS & RC, Davangere, Karnataka, India.

Corresponding author: Dr. Shobha, Associate Professor, Department of Anatomy, J. J. M. Medical College, Davangere, Karnataka, India. Mobile 9738403814, 9886740714 E-Mail: drshobhathanu@gmail.com

ABSTRACT

62 cases of Turner syndrome (T.S) were clinically diagnosed and sent to cytogenetic laboratory for confirmation of 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), delayed appearance of secondary sexual characters & dysmorphic facies, the main complaint of these patients was primary amenorrhoea. Patients were younger at diagnosis & had a significant shorter mean adult height than those with 45,X/ 46,XX mosaicism. Those with mosaicism had mild dysmorphic features & presented with primary or secondary amenorrhoea. The rarest type of T.S (45,X/ 45,XY) was presented in a new born with ambiguous genitalia (suspected for CAH).

Short stature with sexual infantilism & primary or secondary amenorrhoea in a young female should suggest the possibility of Turner syndrome, which should be confirmed by chromosome analysis.

Key words: Turner Syndrome and Variants, Cytogenetics.

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Cite this article: Shailaja CM, Shobha, Vijayakumar BJ, Pravinkumar NK. CLINICAL AND CYTOGENETIC STUDY OF TURNER SYNDROME AND ITS VARIANTS. Int J Anat Res 2020;8(2.1):7440-7444. DOI: 10.16965/ijar.2020.128