- Aparajita Biswas
This research article discusses the rather rare case of a fifteen-year-old girl who had been referred to the Institute of Genetics and Hospital for Genetic Diseases, presenting the issue of primary amenorrhea which is a condition where a female does not get her menses even upon reaching the age of fifteen, despite normal growth of secondary sexual characteristics. It was noted, by undergoing sufficient clinical research that the girl had as such no congenital or intellectual abnormalities in her family history, nor were there any abnormalities detected during the routine examinations that checked for her total bilirubin, serum creatinine, random blood sugar, blood urea, etcetera. However, she had been experiencing a sharp abdominal pain for a cycle of 15 days for the past one year. An ultrasonography of the pelvis and abdomen showed an enlarged uterus with normal left ovary and rudimentary right ovary. It also showed hematometra with the right rudimentary horn of uterus and a bilateral mild hydro ureter (dilated ureter). Cytogenetic analysis, conducted on routine peripheral blood lymphocyte cultures of the patient according to the modified method of Moorhead et al. (1960), followed by standard GTG-banding. A total of twenty-five metaphases were tested and analysed by using an Olympus microscope and GenAsi imaging software with a 550-band resolution. ISCN (2016) guidelines were followed closely for the karyotype analysis.
The karyotype revealed an autosomal translocation between chromosomes 3 and 18 with 3p14 and 18q23, more specifically, being the breakpoints of this translocation. It is worth noting here that 3p14.1 and 3p14.2 both contain chromosomal fragile points which are infamous for many of the genetic disorders resulting in conditions like intellectual disabilities, development delays and cancer growth. The research paper heavily elaborates individually, on both 3p14.1 and 3p14.2, highlighting in much depth the many conditions that these fragile sites such as the FRA3B that they constitute of and what the event of fragility causes. The research paper further discusses on the region: 3p14.2-p14.1 that contain the genes FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, and MAGI1, which contribute to neurodevelopment. Patients with faulty genes in these regions hence face developmental disorders, autistic features, global developmental delay due to several microdeletions and micro-duplications caused to the 3p. Also, 18q23 deletion leads to several instances of mental and physical retardation. In this case, an enlarged uterus with rudimentary right ovary is caused by balanced autosomal translocation of chromosomes 3 and 18 and there has not been another similar case, making this action of fragile genes and the gene translocations rare. It is conclusive, through the research paper, that the chromosomal anomalies have a significant impact on primary amenorrhea, and the removal of Mullerian structures has been suggested during initial operation to avoid further gynaecological complications the patient may have to face.
For more, visit - https://www.pulsus.com/scholarly-articles/a-case-of-hematometra-with-a-chromosomal-abnormality-a-case-report.pdf
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