Challenges in Diagnosis of Reproductive Dysfunction

Tarala D. Nandedkar
In: Current Women's Health Reviews · 2006 · vol. 2(2) , pp. 145–153 · doi:10.2174/157340406776931043 · W2035559069
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This review highlights progress in cellular and molecular diagnostics for reproductive disorders, emphasizing the need for specific markers and new molecular techniques to overcome challenges in early detection and prognosis.

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This review examines the challenges in diagnosing reproductive disorders, emphasizing the need for early detection techniques to improve treatment outcomes. It contrasts well-defined diagnostic criteria for conditions like PCOS and POF with the difficulties posed by unclear etiologies in many other ovarian pathologies. The authors highlight that while CA125 is used for ovarian cancer prognosis, it lacks specificity because levels also rise in endometriosis and other cancers. This paper is centrally about endometriosis — specifically noting it as a condition that causes elevated CA125 levels, thereby complicating its use as a specific marker for ovarian cancer.

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Abstract

Ovarian function and hence cyclicity in women is initiated at puberty and regular menstrual cycles continue until menopause, the point of reproductive senescence. Disturbances in normal cyclicity are usually indicative of a reproductive disorder in women. Disturbance/s may be manifested as oligomenorrhoea, dysmenorrhoea, amenorrhoea or anovulation etc and aid/s in early detection of the clinical condition. On the other hand, in certain ovarian disorders, such as ovarian cancer, symptoms of dysfunction are observed only in the advanced stage of the disease. It is therefore imperative to develop tests/techniques for detecting the disorder at an initial stage in order to facilitate timely treatment. In case of some ovarian conditions such as Polycystic Ovarian Syndrome (PCOS) and Premature Ovarian Failure (POF), the diagnostic criteria and methods of detection are well - defined. However, in a majority of disorders the cause of the disease is not clear, thus posing limitations in the development of new methods of detection or improvement of the existing ones. For instance, an increase in CA125 is widely used for the prognosis of ovarian cancer but the same is not a specific marker since CA125 is known to increase in other cancers as well as endometriosis. Identification of highly specific markers for the multitude of ovarian pathologies is therefore essential. In recent years, development of molecular diagnostic techniques such as Polymerase Chain Reaction (PCR), Single nucleotide polymorphism (SNP), has gained momentum over currently available methods of detection such as ultrasonography, radioimmunoassay to elucidate the extent of damage to the reproductive organ. In the review, recent progress in detection of diseases at the cellular and molecular level, and possible research avenues in diagnosis and prognosis of reproductive disorders has been highlighted. Keywords: Reproductive tract infections, ovarian disorders, menstrual dysfunction, molecular biology techniques, genetics, engineering animals
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Abstract

Ovarian function and hence cyclicity in women is initiated at puberty and regular menstrual cycles continue until menopause, the point of reproductive senescence. Disturbances in normal cyclicity are usually indicative of a reproductive disorder in women. Disturbance/s may be manifested as oligomenorrhoea, dysmenorrhoea, amenorrhoea or anovulation etc and aid/s in early detection of the clinical condition. On the other hand, in certain ovarian disorders, such as ovarian cancer, symptoms of dysfunction are observed only in the advanced stage of the disease. It is therefore imperative to develop tests/techniques for detecting the disorder at an initial stage in order to facilitate timely treatment. In case of some ovarian conditions such as Polycystic Ovarian Syndrome (PCOS) and Premature Ovarian Failure (POF), the diagnostic criteria and methods of detection are well - defined. However, in a majority of disorders the cause of the disease is not clear, thus posing limitations in the development of new methods of detection or improvement of the existing ones. For instance, an increase in CA125 is widely used for the prognosis of ovarian cancer but the same is not a specific marker since CA125 is known to increase in other cancers as well as endometriosis. Identification of highly specific markers for the multitude of ovarian pathologies is therefore essential. In recent years, development of molecular diagnostic techniques such as Polymerase Chain Reaction (PCR), Single nucleotide polymorphism (SNP), has gained momentum over currently available methods of detection such as ultrasonography, radioimmunoassay to elucidate the extent of damage to the reproductive organ. In the review, recent progress in detection of diseases at the cellular and molecular level, and possible research avenues in diagnosis and prognosis of reproductive disorders has been highlighted.

Keywords

Reproductive tract infections, ovarian disorders, menstrual dysfunction, molecular biology techniques, genetics, engineering animals 4

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endometriosisdysmenorrhea

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