Contemporary issues in primary amenorrhea: An experience from a Tertiary Care Center

Bhuyan, Ashok Krishna; Sarma, Debajit; Saikia, Uma Kaimal

doi:10.4103/2230-8210.104103

Cited by 9 publications

(2 citation statements)

References 4 publications

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“…TS is one among the most common causes of primary amenorrhea. 5 Approximately 98-99% of TS fetuses are spontaneously aborted, and about 20% of all spontaneously aborted fetuses have TS. 6 TS is associated with a constellation of potential abnormalities involving many organ systems, making it a challenging disorder for health care providers and families.…”

Section: Discussionmentioning

confidence: 99%

A rare case report of Turner’s syndrome with Mullerian agenesis

Kavyarani

Rathnamma

Priya

2023

Int J Reprod Contracept Obstet Gynecol

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Amenorrhea is the absence of menstrual blood flow. Primary amenorrhea should be considered in a patient with secondary sex characteristics who has not experienced periodic menstruation by 16 years of age or 5 years after breast development. Patients who have not developed secondary sex characteristics, especially the absence of breast development, and have not established periodic menstruation by age 13 should also be worked up for primary amenorrhea1. Turner’s syndrome (TS) also called as Ullrich Turner’s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature and primary ovarian insufficiency. However, TS may also involve other complaints including lymphedema, autoimmune diseases, metabolic diseases, cardiac, kidney and bone anomalies, hearing loss, and neurocognitive difficulties which lead to psychosocial and educational inadaptation. Optimizing health care is crucial to allow these individuals succeed in their full potential. In this regard this is a rare case report of Turner’s syndrome with Mullerian Agenesis.

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Section: Discussionmentioning

confidence: 99%

A rare case report of Turner’s syndrome with Mullerian agenesis

Kavyarani

Rathnamma

Priya

2023

Int J Reprod Contracept Obstet Gynecol

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“…Primary amenorrhea, the lack of menstruation at age 13 years in the absence of normal growth or secondary sexual characteristics, or lack of menstruation by age 15 years in the setting of normal growth and secondary sexual characteristics) may be caused by different underlying factors [ 1 , 2 ]. Genetic factors are important, as seen in Turner syndrome, marked by a missing or incomplete X chromosome, and Androgen Insensitivity Syndrome (AIS), where individuals with XY chromosomes show reduced or absent response to androgens [ 3 , 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

Retrospective Analysis of Effective Management Strategies for Primary Amenorrhea of Reproductive Age in Saudi Arabia

Bakhsh

2024

Life

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Primary amenorrhea, the absence of menstruation by age 15, can have significant implications for reproductive health and overall well-being. This retrospective study aimed to evaluate the effectiveness of various management strategies for primary amenorrhea among women of reproductive age in Saudi Arabia. Medical records of 63 eligible patients from 2018 to 2023 were analyzed, assessing diagnostic methods, treatment modalities, and associated outcomes. The findings revealed that hormonal therapy was the most commonly employed management strategy (50.0%) and demonstrated the highest rate of achieving menstrual regularity (62.5%). Surgical interventions were utilized in 28.1% of cases, with a 50.0% rate of symptom resolution. Lifestyle modifications were less frequent (21.9%) but showed a moderate rate of symptom resolution (35.7%). Logistic regression analysis identified age, underlying etiology, and management strategy as significant predictors of treatment success. Subgroup analyses highlighted the efficacy of hormonal therapy and lifestyle modifications for genetic etiologies, while surgical interventions were more effective for anatomical causes. The study underscores the importance of a comprehensive diagnostic approach and personalized treatment plans tailored to individual patient characteristics. Despite limitations, the findings contribute to the understanding of optimal management strategies for primary amenorrhea and emphasize the need for multidisciplinary collaboration in addressing this complex condition.

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Cytogenetic analysis of patients with primary amenorrhea in Eastern India

Ghosh

Roy

Pal

et al. 2017

Journal of Obstetrics and Gynaecology

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Amenorrhea is the absence of menstruation in women of reproductive age. Previous reports suggest that chromosomal abnormality is the second most common cause of amenorrhoea. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This was an observational study which was conducted in Vivekananda Institute of Medical sciences, Kolkata, during January 2013-December 2015. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in Eastern India and correlate their hormonal profile with chromosomal reports. Clinical features of 150 patients were recorded with clinical expertise. Peripheral venous blood was taken following informed consent, followed by karyotyping for chromosomal analysis. Results revealed 76.1% of PA with normal female karyotype (46, XX) and 23.9% with different abnormal karyotypes. Among the abnormal karyotype constituents, 50% numerical abnormalities, most frequent being Turner syndrome, pure (n = 12, 8%) and mosaic (n = 5, 3.3%). Three cases (2%) showed male (XY) karyotype. The other cases showed X structural abnormalities. This study emphasises the need for cytogenetic analysis as integral part of the diagnostic protocol in case of PA for precise identification of chromosomal abnormalities and for appropriate management and counselling of these patients.

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Contemporary issues in primary amenorrhea: An experience from a Tertiary Care Center

Cited by 9 publications

References 4 publications

A rare case report of Turner’s syndrome with Mullerian agenesis

A rare case report of Turner’s syndrome with Mullerian agenesis

Retrospective Analysis of Effective Management Strategies for Primary Amenorrhea of Reproductive Age in Saudi Arabia

Cytogenetic analysis of patients with primary amenorrhea in Eastern India

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