1.Swyer syndrome: discordance in genotype and phenotype
Ong-Jao Ednalyn T. ; Oblepias Enrico Gil C.
Philippine Journal of Reproductive Endocrinology and Infertility 2010;7():30-34
Swyer syndrome is a medical condition that begins with a mutation in the SRY gene that favors the development of female reproductive organs despite the presence of Y chromosome. The aberrancy in testicular differentiation will lead to abnormal testosterone production and impaired Mullerian Inhibiting Substance secretion resulting in the formation of Mullerian derived structures and regression of Wolffian ducts. Since an XY karyotype is incompatible with follicle formation, the gonads will degenerate and become streak fibrous tissue. Patients are phenotypically female at birth with a uterus, fallopian tubes and bilateral steak gonads. Management involves puberty induction and bone loss prevention through combined hormonal replacement therapy. Bilateral gonadectomy should be performed soon after the diagnosis because of the risk of malignancy. Infertile, childbearing is only through assisted reproductive technology and oocyte donation.
Human
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Adult
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GONADAL DYSGENESIS, 46,XY
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AMENORRHEA
2.Validation of the Filipino translation of the fertility problem inventory as a measure of infertility problem inventory as a measure of infertility related stress among female infertile patients at a tertiary hospital
Ong-Jao Ednalyn T. ; Oblepias Enrico Gil C.
Philippine Journal of Reproductive Endocrinology and Infertility 2011;8(2):37-40
Objective: To validate the Filipino Translation of the Fertility Problem Inventory as a measure of infertility-related stress among female infertile patients.
Design: Cross-sectional study
Setting: Tertiary referral center
Study Population: Female infertility patients aged 21-40 years, with at least one year of attempting to achieve pregnancy.
Outcome Measures: Patients' infertility-related stress was assessed by written questionnaire using the Filipino translation of the Fertility Problem Inventory.
Results: Global stress scores were identical across all ages and educational level attained. increasing number of years trying to conceive has no impact on the global stress scores.
Conclusion: The Filipino translation of the Fertility Problem Inventory provides a valid measure of infertility-related stress.
Human
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Female
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Adult
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INFERTILITY
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INFERTILITY, FEMALE