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Cytogenetic Evaluation of Patients with Clinical Spectrum of Turner Syndrome

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Original Article Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome ABSTRACT Rajasekhar Moka, Kodandapani Sreelakshmi1, AIM: The objective of this study was to correlate the genotype, of female patients, Puthiya Mundyat Gopinath, withshort stature and primary amenorrhea. MATERIALS AND METHODS: One hundred Kapettu Satyamoorthy and forty-six subjects were recruited during 2005-2012. Microscopic and automated Department of Biotechnology, School of Life Sciences, karyotyping analyses were done by using chromosomes isolated from the lymphocytes Manipal, 1Department of using Giemsa banding (GTG) to identify chromosome abnormalities. RESULTS: A total Obstetrics and Gynecology, of 146 clinically suspected Turner syndrome (TS) subjects were recruited for the study, of Kasturba Medical College, which, 61 patients were identified to have chromosome abnormalities. The chromosomal Manipal University, Manipal, Karnataka, India abnormalities detected were as follows: Monosomy X (n = 19, 13.01%), triple X syndrome (n = 4, 2.7%), mosaic TS (n = 12, 8.21%), XY gonadal dysgenesis (n = 13, 8.9%), and Address for correspondence: structural abnormalities including X chromosome (n = 15, 10.27%) and one patient Dr. Rajasekhar Moka, each with autosomal changes involving 9qh inversion and translocation of chromosomes Department of Biotechnology, SoLS, Manipal University, 12 and 14. CONCLUSION: Karyotype abnormalities accounting for 46% in this study Manipal - 576 104, emphasize the need for karyotype testing in cases of short stature with primary amenorrhea. Karnataka, India. E-mail: [email protected] KEY WORDS: Gonadal dysgenesis and monosomy X, primary amenorrhea, short stature Received: 27.02.2013 Review completed: 09.06.2013 Accepted: 10.06.2013 INTRODUCTION condition with certainty. In the present study, the clinical data were recorded by physical Turner syndrome (TS) is a common, but examination and ultrasound. GTG banding little known chromosomal aneuploidy was done for 146 patients with short stature that affects 1 in every 2000 girls.[1] Clinical and amenorrhea to facilitate individual features of TS are due to complete or partial chromosome identification. absence of an X chromosome. Characteristics are short stature (average height of a full MATERIALS AND METHODS grown woman with TS is 4’8”) and primary amenorrhea,[2] with renal and heart structural Automated karyotyping analysis was done abnormalities. TS is clinically suspected when by using IKAROS software in 146 females patient has lymphedema of the hands and (between 6 and 33 years of age) who were feet, excessive skin at the nape of the neck, suspected to have TS either due to short cardiac anomaly in newborns, short stature, stature and primary amenorrhea, secondary and delayed puberty in girls and also in cases amenorrhea, premature ovarian failure, or of infertility and secondary amenorrhea in testicular feminization. Peripheral blood [3] Access this article online adult females. Stature is considered short (5 mL) was collected in a heparinized rd th Quick Response Code: when height is less than 3 or 4 percentile vacutainer. Culture was setup as per the for that age.[4] Puberty begins with gonadal laboratory standardized protocol;[6] 1 mL maturation and increasing production of sex of peripheral blood was added to 10 mL of steroids. Puberty is considered delayed if culture media [RPMI 1640 (10 mL) with fetal there are no secondary sexual characteristics bovine serum (20%), phytohemagglutinin by 13 years of age.[5] However, confirmation (0.2%), 1,0000 units of penicillin and 1,0000 µg by karyotype and presence of Y chromosome of streptomycin per ml]. The culture (T25) Website: will hint the need for gonadectomy to prevent flasks were kept in CO incubator at 37°C www.jhrsonline.org 2 gonadoblastoma. The clinicians may order for 72 h. The cultured cells were arrested at DOI: hormone tests that can suggest TS, but metaphase stage using colchicine (1 µg/mL), 10.4103/0974-1208.117177 karyotype is the only way to diagnose the 30 min prior to the harvest of the cells. Journal of Human Reproductive Sciences / Volume 6 / Issue 2 / Apr - Jun 2013 129 Moka, et al.: Cytogenetics of SS and P Harvesting was done by centrifuging the contents of the 46,XXGD in 85 (58.2%) and 46,XYGD in 13 (8.96%) and flask at 1000 rpm for 10 min, followed by hypotonic (0.075M 47,XXX in 4 (2.73%). Turner’s phenotype including ovarian KCl) treatment for 20 min. The cells were fixed with fixative dysgenesis and genotype monosomy (45,X) were detected (3:1 methanol and acetic acid) and after three changes of in 19(13.01%) and mosaic karyotypes in 14(9.58%) patients. fixative; the metaphase slides were prepared by dropping The patients with mixed gonadal dysgenesis (45,X/46,XY) method and were incubated for ageing at RT for 3 days. The phenotypes range from ambiguous to female. A total of slides were treated for GTG banding[7] with 0.05% of trypsin 17(11.64%) patients showed X chromosome structural solution and stained with 4% giemsa stain. The karyotypes abnormalities such as deletions in two patients with were constructed and analyzed as per International System 46,X,del(X)(pter….>p21) and 46,X,del(X)(qter….>q28) and for Chromosome Nomenclature (2009) guidelines. Further isochromosome (X) in 8(5.47%), ring(X) chromosome in confirmation was done with laboratory standardized CBG 2 (1.36%) and one patient each within v(X) chromosome and and QFQ banding techniques as per the requirement. isodicentric (X) chromosome showed clinical manifestations of both short stature and primary amenorrhea. We also RESULTS found one 12-year-old girl with short stature, primary amenorrhea and karyotype was autosomal translocation The diagnosis was made after thorough clinical evaluation 45/46,XX,t(12;14). A heteromorphic variant; pericentric of phenotypic features including height and cytogenetic inversion of chromosome 9 [46,XX, inv(9qh)] was observed study was carried out in 146 patients, diagnosed as short in another girl with gonadal dysgenesis. stature (n = 27), primary amenorrhea (n = 92), secondary amenorrhea (n = 16), premature ovarian failure (n = 2), DISCUSSION testicular feminization (n = 5), and short stature with sexual ambiguity (n = 2). Sixty-one (41.78%) females were Human chromosomes are gender-specific with found to have chromosome variations among the recruited female exhibiting 22 pairs of autosomes and a pair of patients. The chromosome analysis was done and the X chromosomes. Prevalence of X chromosomal abnormalities results shown in Table 1 and Figure 1a-h are as follows: like monsomy X, trisomy X, XY gonadal dysgenesis/XY Table 1: Chromosomal complements reported in patients with short stature and primary amenorrhea Chromosomal status Karyotype Number (%) XX gonadal dysgenesis 46, XXGD 79 (54.1) XY gonadal dysgenesis 46, XYGD 13 (8.90) Numerical abnormalities 37 (25.34) Monosomy X 45, X 19 (13.01) Triple X syndrome 47, XXX 04 (2.73) Mosaic Turner 45, X/46XX 11 (7.53) syndrome a b c 45, X/46, XX/47, 01 (0.68) XXX Mixed gonadal 45, X/46, XY 02 (1.36) dysgenesis Structural abnormalities 17 (11.64) X chromosome 46, X, del (X) 01 (0.68) deletion (pter>p21) 46, X, del (X) 01 (0.68) d e f (qter>q28) iso (X) chromosome 46, X, iso (X) (q10) 03 (2.05) 45, X/46, X, iso (X) 05 (3.42) (q10) inv (X) chromosome 46, X, inv (X) 01 (0.68) (q21.1‑28) ring (X) chromosome 45, X/46, X, r (X) 02 (1.36) iso (X) dicentric 45, X/46, X, idic (X) 01 (0.68) g h mar (X) chromosome 46, X, mar (X) 01 (0.68) Autosomal 45, X/46, XX, 01 (0.68) Figure 1: Partial karyotypes in patients with short stature and primary amenorrhea (a) X,iso(X), (b) X,idic(X), (c) X,inv(X)(q21q28), translocation t (12;14) (d) X,del(X)(q21.1-q28), (e) X,del(X)(p11.2-p22.3), (f) X,r(X), (g) X,r(X), Autosomal inversion 46, XX, inv (9qh) 01 (0.68) (h) XX,t(12;14) (q23;q13) 130 Journal of Human Reproductive Sciences / Volume 6 / Issue 2 / Apr - Jun 2013 Moka, et al.: Cytogenetics of SS and P female is 1 per 1000.[8-10] Sex chromosome abnormalities the gene content of the deleted/duplicated segment. Partial are common and lead to various phenotypic features. The deletions of the short arm of the X cause significant ovarian effects of X and Y chromosome abnormalities may not insufficiency with Turner’s sign and gonadal dysgenesis.[14] be as severe as those from autosomal abnormalities, but The p11-p21 segment of X chromosome carries a gene stature and pubertal development may be affected since essential for gonadal development and Xp21 seems to sexual development is the result of numerous genes on cause short stature.[15] Studies on the deletion of the Xq have the X chromosome and mutation in any of these genes revealed that in most of these cases the breaks occur within can result in partial or complete failure of stature and the critical Xq13q27 region.[16] The fact that a patient with an pubertal development. Somatic growth and maturation absence of long arm of X chromosome had normal stature in humans are influenced by several factors that act suggests that the presence of short arm of X chromosome independently or in concert to modify an individual’s maintains the stature of the affected. Deletion involving genetic potential. Stature and puberty are dynamic the long arm of X chromosome generally results in periods of development marked by rapid changes in body ovarian failure if they involve the proposed critical region size, shape, and composition, all of which are sexually Xq13—q26.[17] In our study, it was evidenced that eight dimorphic.
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