Ever intriguing &amp;#145;Primary Amenorrhea'- an audit

Amin, Sapna Vinit; Rai, Lavanya; Palpandi, Priyadharshini; Kumaran, Aswathy

doi:10.5455/2320-1770.ijrcog20141242

Cited by 4 publications

(8 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The chromosomal aberration frequency has been reported to be ranging from 14 to 60% (Table 6) [11][12][13][14][15][16]. In the present study, chromosome aberrations were identified in 11 (11%) out of 100 PA cases studied.…”

Section: Discussionsupporting

confidence: 47%

Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre

Pritti

Mishra

Patel

et al. 2022

Egypt J Med Hum Genet

View full text Add to dashboard Cite

Background Amenorrhea is the absence of menstruation in women of reproductive age. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in western India and correlate their hormonal profile and sonographic findings with chromosomal reports. Patients and methods Clinical features of 100 patients along with their hormonal profile and sonographic findings were recorded. Karyotyping was done after taking informed consent from the patients. Molecular cytogenetic technique was used to confirm marker chromosomes and ring chromosomes. Results The results revealed 89% of PA with normal female karyotype (46,XX) and 11% with different abnormal karyotypes. Majority of females with normal karyotype were having Mullerian defects and among them most of them were categorized under Rokitansky syndrome. Among the abnormal karyotype constituents, 27.3% numerical abnormalities, all were Turner syndrome; pure and mosaic. Four cases (36.4%) showed male (XY) karyotype. The other four cases (36.4%) showed structural abnormalities, among which three cases showed X-associated structural abnormality and one case showed balanced translocation. Conclusion This study emphasizes the need for cytogenetic analysis as an integral part of the diagnostic protocol in the case of PA for precise identification of chromosomal abnormalities; and for appropriate reproductive management. Early detection of abnormalities is necessary for guidance to reproductive options and genetic counselling.

show abstract

Section: Discussionsupporting

confidence: 47%

Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre

Pritti

Mishra

Patel

et al. 2022

Egypt J Med Hum Genet

View full text Add to dashboard Cite

show abstract

“…The chromosomal aberration frequency reported to be ranging from 14 to 60%. [3][4][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] In our study, chromosome aberrations were identified in 121 (24.7%) out of 490 PA cases studied (Table 1). The frequency of chromosome aberrations of our study is similar to studies reported from different parts of the world (Table 6).…”

Section: Discussionmentioning

confidence: 87%

“…[8] As the incidence of male karyotype in this study is high as compared to previous reported studies (16%). [4,[9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] , the presence of Y chromosome should be confirmed by FISH. At the same time these cases needs to be further assessed for any mutation of SRY gene, SF1 gene and the other genes which are responsible for male karyotype in phenotypic female with PA. [24,25] These cases should be correlate with genetic investigation for appropriate genetic counselling.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Cytogenetic profile of 490 cases of Primary amenorrhea

Vundinti¹

2018

jmscr

View full text Add to dashboard Cite

Primary amenorrhoea (PA) is one of the common reproductive disorder affecting females.PA is characterised by the absence of menarche in the reproductive age group in females and some cases with absence of reproductive organs. The study was carried out in large cohort (N=490) of subjects with PA to identify genetic, anatomical and hormonal factors responsible for PA. Conventional cytogenetic and FISH (fluorescence in situ hybridization) technique were applied to detect the chromosomal abnormalities. The chromosomal abnormalities were detected in total 121 (24.7%) females. In our cohort numerical chromosomal aberrations frequency was found to be high (43.8%) as compared to structural abnormalities (26.4%). The 46, XY karyotype was identified in 29.8% patients. The anatomical abnormalities including absences of ovaries (51.2%), streak ovaries (35.6%), hypoplastic uterus (59.6%), absent uterus (22.3%) were also detected and correlated with genetic abnormalities in this cohort. FSH (follicular stimulating hormone) level were also found to be high in these patients. Our study suggests that genetic investigation are important for further management of the disease.

show abstract

“…Consequently only 10%–15% of affected patients could achieve menarche at expected time point. [1718192021222324] The patients who achieved menarche do not maintain it for long time due to gonadal dysgenesis. [252627] However, time of gonadal dysgenesis vary due to difference in affected region of homologous chromosome.…”

Section: Discussionmentioning

confidence: 99%

“…However, the presence of Y chromosome should be confirmed by molecular cytogenetic technique. [17181921222324] At the same time, these cases need to be further assessed for any mutation of SRY and SF1 gene and also in the other genes which are responsible for male karyotype in phenotypic female with PA.[2829303132] Gonads developed in such cases do not secrete hormones and should be removed at the time of diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal aberrations in primary amenorrhea: A retrospective study

et al. 2019

View full text Add to dashboard Cite

Objectives: The aim of this study was to estimate the frequency of chromosomal abnormalities and establish the association with clinical of factors such as secondary sexual characters and gonad development in primary amenorrhea (PA). Study Design: The study was carried out in a large cohort of PA. The chromosomal aberrations were correlated with secondary sexual characters and anatomical abnormalities. Materials and Methods: The data of 490 cases of PA were collected retrospectively. The chromosomal preparations were done from the peripheral blood and subjected to giemsa-trypsin-giemsa banding and karyotyped according to the International System of Human Cytogenetic Nomenclature 2013. The fluorescence in situ hybridization was carried out using centromeric and whole painting probes for X and Y chromosome. Statistical Analysis: Statistical analysis of the data was performed using online version of social science statistics software. Results: A high frequency of abnormal uterus (81.9%) and ovaries (86.7%) were detected in our study. A total of 121 (24.7%) cases were identified with abnormal karyotype. The numerical chromosomal abnormalities were identified in 53 (43.8%) cases while structural abnormalities were identified in 32 (26.4%) cases. The XY karyotype was detected in 29.8% females with PA. The PA individuals with anatomical abnormalities (84.3%) had a high frequency (24.6%) of chromosomal aberrations. Conclusions: The present study concluded that cytogenetics plays an important role in precise diagnosis which helps in the management of PA. The cytogenetic analysis should be carried out to know the genetic basis of PA.

show abstract

Ever intriguing Primary Amenorrhea'- an audit

Cited by 4 publications

References 6 publications

Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre

Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre

Clinical and Cytogenetic profile of 490 cases of Primary amenorrhea

Chromosomal aberrations in primary amenorrhea: A retrospective study

Contact Info

Product

Resources

About