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      A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis

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          Abstract

          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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          Author and article information

          Journal
          BMJ Case Rep
          BMJ Case Rep
          casereports
          bmjcasereports
          BMJ Case Reports
          BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )
          1757-790X
          2015
          7 February 2015
          : 2015
          Affiliations
          [1 ] Department of Obstetrics, Antwerp University Hospital UZA, Edegem, Belgium
          [2 ] Department of Genetics, Antwerp University Hospital UZA, Edegem, Belgium
          Author notes
          [Correspondence to ] Professor Yves Jacquemyn, yves.jacquemyn@ 123456uza.be
          Article
          PMC4330456 PMC4330456 4330456 bcr-2014-206609
          10.1136/bcr-2014-206609
          4330456
          25666240
          2015 BMJ Publishing Group Ltd
          Categories
          Article
          1523
          Rare Disease
          Female
          13-18 years
          White
          Europe (West)
          Case Report

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