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- W1967774037 abstract "Gonadal dysgenesis with female phenotype is defined as the absence or insufficient development of the ovaries. Hypogonadism or impuberism are variable, depending on the degree of gonadal development. Mayer-Rokitansky-Küster-Hauser syndrome is a rare malformative anomaly (1/5000 women) associating uterine and vaginal aplasia with normal ovaries. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. Hormone assay revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. Internal genitalia could not be identified on the pelvic ultrasound. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome. There were no other morphological malformations. An association between these two conditions is very exceptional and appears to be coincidental, independent of chromosomal anomalies. Hormone substitution therapy remains the only therapeutic option. Hormone substitution is aimed at triggering the development of secondary sexual characters and prevent osteoporosis. There remains the unsolved problem of infertility." @default.
- W1967774037 created "2016-06-24" @default.
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- W1967774037 date "2004-10-01" @default.
- W1967774037 modified "2023-10-02" @default.
- W1967774037 title "Association dysgénésie gonadique et syndrome de Rokitansky Kuster Hauser : à propos d’un cas" @default.
- W1967774037 cites W1978377254 @default.
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- W1967774037 doi "https://doi.org/10.1016/s0003-4266(04)95953-7" @default.
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