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  • Title: Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation.
    Author: Karimian N, Ghadakzadeh S, Eshraghi M.
    Journal: Fertil Steril; 2010 Jan; 93(1):267.e13-4. PubMed ID: 19914618.
    Abstract:
    OBJECTIVE: To report a rare presentation of Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis. DESIGN: Case report. SETTING: Academic gynecology and obstetrics department. PATIENT(S): A 28-year-old woman with primary amenorrhea. INTERVENTION(S): Laparoscopic gonadectomy. MAIN OUTCOME MEASURE(S): Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterus size, height. RESULT(S): The patient had pure 46,XY gonadal dysgenesis with hypoplastic uterus, which is a rare finding in Swyer syndrome. She had developed no gonadal malignancies and, despite receiving estrogen, had remained amenorrheic. CONCLUSION(S): Further studies should be done on this rare chromosomal condition to find the exact factors affecting the uterus size and to improve the ways of inducing puberty in such patients by considering the age of diagnosis in order to help them have a normal sex life and also the ability to carry a fetus in their immature uteruses.
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