Both ART and VRT significantly improved in either group but the effect size was more in SPA group vs. USPA group (VRT: 0.87 vs. 0.76; ART: 0.79 vs. 0.65). Thus structuring the physical training in a cognitively engaging manner leads to greater improvements in the perceptual, executive cognitive response phenomenon of growing adolescents.
AIM:This study aims at evaluating the chromosomal abnormalities and deoxyribonucleic acid (DNA) damage in cases with primary amenorrhea by karyotyping and comet assay.STUDY DESIGN:A total of 30 cases of primary amenorrhea were recruited. Secondary sexual characters were assessed by Tanner staging. Chromosomal analysis was performed by conventional phytohemagglutinin stimulated lymphocyte cell culture technique. Alkaline version of comet assay was used to evaluate DNA damage.RESULTS:The chromosomal pattern of 20 subjects (66.7%) was found to be normal (46,XX). Two subjects had 46,XY pattern and eight subjects had Turner syndrome (45,X or 45,X/46,XX). The comet parameters were found to be increased among subjects with 45,X monosomy, when compared to the rest of the study group and also in subjects with Tanner stage 1 when compared to stage 2.CONCLUSION:Comet assay revealed increased DNA damage in cases with 45,X monosomy, compared with subjects with 46,XX and 46,XY karyotype, which correlated with clinical features.
Kabuki syndrome also called as Niikawa Kuroki syndrome is a paediatric congenital disorder characterised by distinctive facial features, skeletal anomalies, short stature, dermatoglyphic abnormalities and mental retardation. This syndrome usually manifests with precocious puberty. We are presenting a case of Kabuki syndrome from the South-Indian population with primary amenorrhea for the first time. Further, the clinical features had considerable overlap with Turner syndrome, and chromosomal analysis revealed the presence of ring (X) chromosome with 45,X karyotype.
Turner syndrome is a pan-ethnic congential disorder caused by the partial or complete absence of one of the X chromosomes in females. Development of secondary sexual characteristics or menarche or spontaneous conception in Turner syndrome requires hormonal replacement therapy. Only a very few cases have been documented with spontaneous menarche with Turner syndrome. In this report, we are presenting a case of Turner syndrome, along with thyroid dysfunction who had spontaneous menarche.
Androgen insensitivity syndrome (AIS), is a X-linked disorder characterized by resistance to androgen caused by mutation of androgen receptor gene in which XY karyotype individuals exhibit female phenotype.AIS is characterised by evidence of feminization (under masculinization) of the external genitalia at birth, abnormal secondary sexual development at puberty, and infertility in individuals with 46 XY karyotype.We are presenting here a familial case of complete androgen insensitivity syndrome in south Indian Population. 46 XY karyotype was found in two subjects who were cousin sisters with female phenotype,who presented with primary amenorrhoea. Comet assay was done, which showed results comparable with normal males. In both girls' inguinal gonads was present which was removed and hormonal therapy with estrogen was given to prevent osteoporosis. Androgen insensitivity syndrome can be inherited as an X linked disorder as evidenced by previous studies.
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