A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital
Introduction: Congenital absence of uterus, inability of the ovary to produce the eggs and any malformations of ovary, fallopian tube, uterus and adnexal tissue may lead to Primary Amenorrhea (PA). The genetic and chromosomal abnormalities are the main cause of PA. Endocrine causes like abnormal...
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doaj-e9e665cd49ea45518fd4fd686faa6a052021-07-08T07:23:55ZengJCDR Research and Publications Pvt. Ltd.International Journal of Anatomy Radiology and Surgery2277-85432455-68742021-04-01102AO25AO2710.7860/IJARS/2021/45369:2637A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral HospitalC Shivaleela0 S Lakshmi Prabha1 Meenakshi Bhat2K Jayaram3KL Harshal4Associate Professor, Department of Anatomy, Sri Siddhartha Medical College, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.Professor and Head, Department of Anatomy, Sri Siddhartha Medical College, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.Consultant Clinical Geneticist, Department of Anatomy, Sri Siddhartha Medical College, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.Consultant Clinical Geneticist, Department of Anatomy, Sri Siddhartha Medical College, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.Research Associate, Department of Anatomy, Sri Siddhartha Medical College, Sri Siddhartha Academy of Higher Education, Tumkur, Karnataka, India.Introduction: Congenital absence of uterus, inability of the ovary to produce the eggs and any malformations of ovary, fallopian tube, uterus and adnexal tissue may lead to Primary Amenorrhea (PA). The genetic and chromosomal abnormalities are the main cause of PA. Endocrine causes like abnormal function of pituitary gland and hypothalamus also lead to PA. Other causes like stress, extreme physical activity and psychological causes or a combination of these causes may lead to delayed onset of menarche. Aim: To study the frequency and type of chromosomal abnormalities in PA patients. Materials and Methods: In the present descriptive study, subjects included patients referred with PA for chromosomal analysis to Sri Siddhartha Medical College Genetic Laboratory. Pedigrees with details were drawn and in-depth clinical evaluation and clinical information were obtained from all subjects. Results: Of the 77 females with amenorrhea, 65 (84.4%) had a normal karyotype (46, XX) while 12(15.58%) had abnormal karyotype. The age group of the patients with PA ranged from 16-27 years. Mean age of PA was 21 years. In the present study, among 12 abnormal karyotyping patients 7 (58,3%) patients showed XY, sex reversal. This study also identified a X chromosome homogeneous monosomy, (Turner’s) 45 X in one (8.3%) case. Turner’s mosaic 45, X /46, XX in three cases (25%), and one case (8.3%) showed inversion 46, XX, inv (11), (P15q11). Conclusion: A significant number of patients had sex chromosomal abnormalities; thus, early cytogenetic investigation is prudent to guide further management. Genetic counselling should include the risk of premature menopause for patients with Turner’s syndrome and the use of hormonal replacement therapy, the risk of gonadal malignancy for patients with XY gonadal dysgenesis and the possibility of infertility in the future children of patients with mosaic Turner.http://www.ijars.net/articles/PDF/2637/45369_CE[Ra1]_F(SHU)_PF1(ShG_SHU)_PFA_NC(SHU)_PN(SHU).pdfchromosomal studiescytogenetic studiesinfertility |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
C Shivaleela S Lakshmi Prabha Meenakshi Bhat K Jayaram KL Harshal |
spellingShingle |
C Shivaleela S Lakshmi Prabha Meenakshi Bhat K Jayaram KL Harshal A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital International Journal of Anatomy Radiology and Surgery chromosomal studies cytogenetic studies infertility |
author_facet |
C Shivaleela S Lakshmi Prabha Meenakshi Bhat K Jayaram KL Harshal |
author_sort |
C Shivaleela |
title |
A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital |
title_short |
A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital |
title_full |
A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital |
title_fullStr |
A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital |
title_full_unstemmed |
A Study of Chromosomal Abnormality Patterns in Patients with Primary Amenorrhea in a Tertiary Care Referral Hospital |
title_sort |
study of chromosomal abnormality patterns in patients with primary amenorrhea in a tertiary care referral hospital |
publisher |
JCDR Research and Publications Pvt. Ltd. |
series |
International Journal of Anatomy Radiology and Surgery |
issn |
2277-8543 2455-6874 |
publishDate |
2021-04-01 |
description |
Introduction: Congenital absence of uterus, inability of the
ovary to produce the eggs and any malformations of ovary,
fallopian tube, uterus and adnexal tissue may lead to Primary
Amenorrhea (PA). The genetic and chromosomal abnormalities
are the main cause of PA. Endocrine causes like abnormal
function of pituitary gland and hypothalamus also lead to
PA. Other causes like stress, extreme physical activity and
psychological causes or a combination of these causes may
lead to delayed onset of menarche.
Aim: To study the frequency and type of chromosomal
abnormalities in PA patients.
Materials and Methods: In the present descriptive study, subjects
included patients referred with PA for chromosomal analysis to Sri
Siddhartha Medical College Genetic Laboratory. Pedigrees with
details were drawn and in-depth clinical evaluation and clinical
information were obtained from all subjects.
Results: Of the 77 females with amenorrhea, 65 (84.4%) had
a normal karyotype (46, XX) while 12(15.58%) had abnormal
karyotype. The age group of the patients with PA ranged from 16-27
years. Mean age of PA was 21 years. In the present study, among 12
abnormal karyotyping patients 7 (58,3%) patients showed XY, sex
reversal. This study also identified a X chromosome homogeneous
monosomy, (Turner’s) 45 X in one (8.3%) case. Turner’s mosaic
45, X /46, XX in three cases (25%), and one case (8.3%) showed
inversion 46, XX, inv (11), (P15q11).
Conclusion: A significant number of patients had sex
chromosomal abnormalities; thus, early cytogenetic investigation
is prudent to guide further management. Genetic counselling
should include the risk of premature menopause for patients
with Turner’s syndrome and the use of hormonal replacement
therapy, the risk of gonadal malignancy for patients with XY
gonadal dysgenesis and the possibility of infertility in the future
children of patients with mosaic Turner. |
topic |
chromosomal studies cytogenetic studies infertility |
url |
http://www.ijars.net/articles/PDF/2637/45369_CE[Ra1]_F(SHU)_PF1(ShG_SHU)_PFA_NC(SHU)_PN(SHU).pdf |
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