Heterochromatin Extension: A Possible Cytogenetic Fate of Primary Amenorrhea along with Normal Karyotype

Cessation of menses or complete absence of menses in females of age 14 is termed as primary amenorrhea (PA), a common consequence of utero-vaginal malfunction. Females develop phenotypic expressions as short stature, undeveloped breast or shield chest, poor tanner stage, hirsutism, an increase in carrying angle etc. These are the common features of Turner’s syndrome also where karyotyping is essential for PA females. This study reveals the consequence against Turner’s Syndrome in case of PA. There is a heterochromatin extension as a type of polymorphism in ch-9 and ch-16. 178 primary amenorrhoeic females were studied. A total of 10.11% primary amenorrhoeic females were found with heterochromatin extension (46, XX, 9qh⁺ : 8  and  46, XX, 16qh⁺ : 10). As there is a similarity in phenotype for Turner’s syndrome karyotype and normal karyotype with heterochromatin extension, hormonal estimation was done to find whether hormones change the phenotypes or not. Gonadotropins work on the development of ovaries that is not important for the normal growth of body or regulate BMI. In case of Turner, serum concentration of Follicle Stimulating Hormone and Luteinizing Hormone increase than the normal individual. Further study may reveal the association of heterochromatin extension along with ovarian development.