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  • Cytogenetic analysis...

Cytogenetic analysis tied to early and accurate diagnosis of primary amenorrhea, improved QoL: Study

Written By : Dr Monish Raut |Medically Reviewed By : Dr. Kamal Kant Kohli Published On 2024-09-04T03:00:04+05:30  |  Updated On 4 Sept 2024 2:45 PM IST
Cytogenetic analysis tied to early and accurate diagnosis of primary amenorrhea, improved QoL: Study
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Primary amenorrhoea, a prevalent gynecological disorder among adolescent girls, is frequently associated with chromosomal abnormalities. Recent study evaluated the various types of chromosomal abnormalities found in 40 patients diagnosed with primary amenorrhea (PA) at the Department of Genetics in Nirnayan Healthcare, Kolkata, India. Cytogenetic analysis was performed on peripheral blood samples to screen for chromosomal abnormalities. Out of the 40 PA patients, 29 (72.5%) had normal karyotypes, with 28 (70%) being 46,XX and 1 (2.5%) having a 46,XX,9qh+ karyotype, which is considered a normal variant. The remaining 11 patients (27.5%) exhibited diverse chromosomal abnormalities.

The most common abnormality was monosomy X (45,X), found in 4 patients (10%). Other abnormalities included sex reversal (46,XY in 1 patient, 2.5%), isochromosome (46,X,i(X)(q10) in 1 patient, 2.5%), and various structural X chromosome deletions (46,X,del(X)(p11.2), 46,X,del(X)(p22.1), and 46,X,del(X)(q24) each in 1 patient, 2.5% each). Two patients (5%) showed mosaicism, with one having mos 45,X-[22-]/46,Xi(X)(q.10)-[8-] and the other mos 45,X-[16-]/46,XY-[14-]. The study highlights the importance of cytogenetic analysis in the early diagnosis and management of PA. Karyotyping is an essential tool in identifying the underlying chromosomal abnormalities responsible for this condition. Early diagnosis and appropriate genetic counseling can significantly improve the quality of life for young girls affected by PA. The study also emphasizes the need to expand the availability of cytogenetic services, especially in developing regions like eastern India, to ensure timely and accurate diagnosis of PA cases.

Key Points

Here are the 6 key points from the research paper:

1. The study evaluated the types of chromosomal abnormalities found in 40 patients diagnosed with primary amenorrhea (PA) at the Department of Genetics in Nirnayan Healthcare, Kolkata, India.

2. Cytogenetic analysis of peripheral blood samples revealed that 29 out of the 40 PA patients (72.5%) had normal karyotypes, with 28 (70%) being 46,XX and 1 (2.5%) having a 46,XX,9qh+ karyotype, which is considered a normal variant.

3. The remaining 11 patients (27.5%) exhibited diverse chromosomal abnormalities, with the most common being monosomy X (45,X), found in 4 patients (10%). Other abnormalities included sex reversal (46,XY in 1 patient, 2.5%), isochromosome (46,X,i(X)(q10) in 1 patient, 2.5%), and various structural X chromosome deletions (46,X,del(X)(p11.2), 46,X,del(X)(p22.1), and 46,X,del(X)(q24) each in 1 patient, 2.5% each).

4. Two patients (5%) showed mosaicism, with one having mos 45,X-[22-]/46,Xi(X)(q.10)-[8-] and the other mos 45,X-[16-]/46,XY-[14-].

5. The study highlights the importance of cytogenetic analysis in the early diagnosis and management of PA, as karyotyping is an essential tool in identifying the underlying chromosomal abnormalities responsible for this condition.

6. The study emphasizes the need to expand the availability of cytogenetic services, especially in developing regions like eastern India, to ensure timely and accurate diagnosis of PA cases, which can significantly improve the quality of life for young girls affected by this condition.

Reference –

Byapti Banerjee, Atreyee Dutta, Sanchita Roy & Ajanta Halder (2024)Primary amenorrhoea - cytogenetic study in 40 Indian women, Journal of Obstetrics and Gynaecology, 44:1, 2348085, DOI: 10.1080/01443615.2024.2348085

Primary amenorrhoeachromosomal AbnormalitiesGenetic CounselingKaryotyping
Dr  Monish  Raut
Dr Monish Raut

    MBBS, MD (Anaesthesiology), FNB (Cardiac Anaesthesiology)

    Dr Monish Raut is a practicing Cardiac Anesthesiologist. He completed his MBBS at Government Medical College, Nagpur, and pursued his MD in Anesthesiology at BJ Medical College, Pune. Further specializing in Cardiac Anesthesiology, Dr Raut earned his FNB in Cardiac Anesthesiology from Sir Ganga Ram Hospital, Delhi.

    Dr. Kamal Kant Kohli
    Dr. Kamal Kant Kohli

    Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751

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