A Retrospective Study in Cases with Sex Chromosome Anomaly in Samsun and Around

Abstract

Objective: Chromosomes have a major role in the etiology of disorders associated with sexual development is study, we investigated the frequency of chromosome anomalies in patients with sex anomaly. Material and Methods: Cytogenetic analysis was performed using Giemsa banding and karyotyping was based on the International System for Human Cytogenetic Nomenclature. X chromatin analysis was made from buccal epithelial cells. Results: We studied 153 patients [101 (66%) female and 52 (34%) male] who were referred to the Cytogenetic Laboratory of Ondokuz Mayis University Faculty of Medicine, Medical Biology Department and Medical Genetic Section in 2000-2005. Among the 153 patients, 62 (40.5%) were referred for primary amenorrhea. 32(20.9%) hypogonadism, 19 (12.5%) late puberty, 11 (7.1%) ambiguous genitalia, 1 (0.7%) undescended testes and 28 (18.3%) for other diagnoses. One hundred and thirty one (85.5%) cases had normal karyotype. Chromosome abnormalities were observed in 22 (14.5%) cases. The most frequent chromosome abnormality was Turner syndrome in 9 (5.9 %) cases. The rest were as follows; 2 (1.3%) Klinefelter syndrome, 6 (4%) mosaic Turner syndrome, 2 (1.3%) testicular feminization syndrome, 1 (0.7%) mos 46.XX[59]/46,XY[41] and 2 (1.3%) other abnormalities. In cases where mosaicism was detected, metaphases up to 100 were analyzed. In mosaic cases, 2 (1.3%) had Turner syndrome variant, The genotype of these variants were mos 45,X[35]/46,X,i(X)(q10)[65] and mos 45X[40]/46,X,i(X)(q10)[60]. Cases of monosomy 45,X were negative for X chromatin. Turner syndrome variant mos 45,X[35]/46,X,i(X)(q10)[65] had 20% and mos 45,X[40]/46,X,i(X)(q10)[60] had 25% X chromatin. In klinefelter syndrome cases, double X chromatin was observed. Conclusion: Karyotypes of the patients with diagnosed genital anomalies was investigated and the relationship between genotype and phenotype was assessed. The results of this study, suggested that chromosomal analyses were necessary for the clinical management of sex anomaly patients.