Cytogenetic investigation of patients with primary amenorrhea

Abstract

Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16. Cytogenetic analysis in two cases with primary amenorrhea, short stature, poorly developed secondary sexual characteristics, and growth retardation were studied. Routine GTG-band analysis of metaphases from peripheral blood leucocytes revealed female karyotype with a 15(ps+) and an isochromosome of X, i(Xq), in one patient and 46,X, i(Xq), in another patient. Ascertainment of the karyotype aided in confirmation of the provisional diagnosis, a better phenotype–genotype correlation to understand clinical heterogeneity in genetic counseling.

Absent endometrium due to balanced translocation [t(4;20)] presenting as primary amenorrhea

“…It has been reported that the percentage of chromosomal abnormalities varies from 20 to 31 in patients with primary amenorrhea. [ 4 ] Importantly, most of the studies in primary amenorrhea patients have observed the involvement of sex chromosomes. Translocation between X and autosome have been reported as sporadic findings.…”