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Study of Sex Chromatin in Primary Amenorrhoea Patients and their First Degree Relatives

Isha Jaiswal. , Isha Jaiswal1 , A P Kasote2 , M P Fulpatil3 , A D Patil4

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Indian Journal of Anatomy 9(4):p 237-242, October-December 2020. | DOI: http://dx.doi.org/10.21088/ija.2320.0022.9420.1

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Isha Jaiswal, A P Kasote, M P Fulpatil, et al. Study of Sex Chromatin in Primary Amenorrhoea Patients and their First Degree
Relatives. Indian J Anat. 2020;9(4):237–242.
 

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Received : N/A         Accepted : N/A          Published : N/A

Abstract

Introduction: The mean age of menarche has become younger this century. Primary amenorrhoea is defined as the absence of menses by 13 years of age when there is no visible secondary sexual characteristic development or by 15 years of age in the presence of normal secondary sexual characteristics. In all cases of primary amenorrhoea, there is a need to determine the sex chromatin pattern in the nuclei of epithelial cells obtained by buccal scrapings. Aims and objectives: To study the sex chromatin among patients of primary amenorrhoea and their first degree relatives. Materials and Methods: 32 patients having primary amenorrhoea along with their first degree relatives were studied (total 64). Buccal scrapings were taken from both the patient and relative and stained with Giemsa stain for study of various parameters like presence or absence, number, size, shape and staining intensity of Barr body. Results: Total numbers of patients studied were 32. 56.25% of the patients were negative for sex chromatin. 37.5% of the patients had absent Barr bodies in their cells. The shape of Barr body was found to be planoconvex in all patients and relatives. 1 patient was found to have a smaller sized Barr body and 1 had a larger sized one. The staining intensity of Barr body was equally dark in both patients and their first degree relatives. Mean % of Barr bodies among patients was 13.41 ± 14.30% (p value <0.0001, HS). Conclusion: Primary amenorrhoea is an extremely stressful problem for a young girl and her parents. The clinician should handle the case with great sensitivity. Patient awareness and proper counselling of parents is of great importance regarding the treatment options available and the need of follow up.

 

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Cite this article

Isha Jaiswal, A P Kasote, M P Fulpatil, et al. Study of Sex Chromatin in Primary Amenorrhoea Patients and their First Degree
Relatives. Indian J Anat. 2020;9(4):237–242.
 

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Received Accepted Published
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DOI: http://dx.doi.org/10.21088/ija.2320.0022.9420.1

Keywords

Primary Amenorrhoea; Sex Chromatin; Barr Body; First Degree Relatives

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