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Title
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A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis
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Author
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Abstract
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| Disorders of sexual development are conditions where sexual phenotype and genotype are discordant. Genetic sex is determined at conception as the ovum is fertilised by a spermatozoon that contains either an X or Y chromosome. A complex pathway determined by genes and hormones leads to gonadal differentiation into testis or ovary and promotes the development of internal and external genitalia. We present a case of an 18-year-old woman who presented with primary amenorrhoea. She was a virgin, and apart from hirsutism and overweight, had no complaints. Her family history was insignificant. The patient was tall and had underdeveloped breasts. Her blood results showed hypergonadotropic hypogonadism. A 46, XY genotype was detected with karyotype analysis. Ultrasound and MRI demonstrated the presence of a uterus, but no overt gonads. Laparoscopy was performed, with bilateral removal of streak ovaries. |
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Language
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English
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Source (journal)
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BMJ case reports. - London, 2008, currens
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Publication
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London
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BMJ Pub. Group
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2015
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ISSN
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1757-790X
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DOI
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10.1136/BCR-2014-206609
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Volume/pages
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(2015)
, p. 1-3
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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