Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Clinical profile and cytogenetic correlations in females with primary amenorrhea

  • Divya Chandel (Department of Zoology, BioMedical Technology and Human Genetics, Gujarat University) ;
  • Priyanka Sanghavi (Department of Zoology, BioMedical Technology and Human Genetics, Gujarat University) ;
  • Ramtej Verma (Department of Zoology, BioMedical Technology and Human Genetics, Gujarat University)
  • Received : 2022.12.19
  • Accepted : 2023.05.04
  • Published : 2023.09.30
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Abstract

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.

Keywords

Acknowledgement

This study was supported in part by grants from the University Grants Commission under the Department of Special Assistance (DSA) program, Council of Scientific and Industrial Research (CSIR), New Delhi, India and Gujarat State Biotechnology Mission (GSBTM), Government of Gujarat, India.

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